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Sample records for prenatally diagnosed fetal

  1. Prenatal sonographic measurement of the fetal thyroid gland

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    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young [Chunan Hospital, Soonchunhyang University College of Medicine, Chunan (Korea, Republic of)

    2001-03-15

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r{sup 2}=0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  2. Prenatal sonographic measurement of the fetal thyroid gland

    International Nuclear Information System (INIS)

    Ahn, Young Cheol; Kim, Young Hwa; Cho, Won Soo; Bae, Won Kyung; Kim, Il Young

    2001-01-01

    To investigate whether the fetal thyroid gland could be examined by prenatal ultrasonography and to established the normal range of fetal thyroid width according to the gestational age. The width of the fetal thyroid was determined by prenatal ultrasonography from 118 pregnant women. Three of the mothers had current or previous thyroid disease and the widths of the fetal thyroid were determined from 115 normal subjects. The width of the fetal thyroid was defined by a maximum transverse distance of the thyroid gland between two carotid arteries on transverse scan of the fetal neck. We analyzed the cause of non-measurable cases. The width of the fetal thyroid and Neo-TSH were compared in 19 subjects, including 3 subjects will current or previous thyroid disease. We could measure the fetal thyroid widths in 95 cases (80%). The fetal thyroid widths of mothers without current or previous thyroid disease was 0.9-2.36 cm,which showed linear correlation with gestational age (Y=0.0506 X + 0.0439, r 2 =0.5661). Causes of non-measurable cases were neck flexion (65%), prone position (22%), and overlapped fetal neck by arm or shoulder (13%). Of the 19 neonates with Neo-TSH level, one case had a mother with a thyroid disease and showed increased width of the fetal and high Neo-TSH. The fetal thyroid was measured in 80% of prenatal ultrasonography and the width of the fetal thyroid showed linear correlated with gestational age. We assumed that the width of the thyroid could be useful for diagnosing fetal thyroid disorder when maternal thyroid disease exists.

  3. Variations in management of mild prenatal hydronephrosis among maternal-fetal medicine obstetricians, and pediatric urologists and radiologists.

    Science.gov (United States)

    Zanetta, Vitor C; Rosman, Brian M; Bromley, Bryan; Shipp, Thomas D; Chow, Jeanne S; Campbell, Jeffrey B; Herndon, C D Anthony; Passerotti, Carlo C; Cendron, Marc; Retik, Alan B; Nguyen, Hiep T

    2012-11-01

    There are no current guidelines for diagnosing and managing mild prenatal hydronephrosis. Variations in physician approach make it difficult to analyze outcomes and establish optimal management. We determined the variability of diagnostic approach and management regarding prenatal hydronephrosis among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. Online surveys were sent to mailing lists for national societies for each specialty. Participants were surveyed regarding criteria for diagnosing mild prenatal hydronephrosis and recommendations for postnatal management, including use of antibiotic prophylaxis, followup scheduling and type of followup imaging. A total of 308 maternal-fetal medicine obstetricians, 126 pediatric urologists and 112 pediatric radiologists responded. Pediatric urologists and radiologists were divided between Society for Fetal Urology criteria and use of anteroposterior pelvic diameter for diagnosis, while maternal-fetal medicine obstetricians preferred using the latter. For postnatal evaluation radiologists preferred using personal criteria, while urologists preferred using anteroposterior pelvic diameter or Society for Fetal Urology grading system. There was wide variation in the use of antibiotic prophylaxis among pediatric urologists. Regarding the use of voiding cystourethrography/radionuclide cystography in patients with prenatal hydronephrosis, neither urologists nor radiologists were consistent in their recommendations. Finally, there was no agreement on length of followup for mild prenatal hydronephrosis. We observed a lack of uniformity regarding grading criteria in diagnosing hydronephrosis prenatally and postnatally among maternal-fetal medicine obstetricians, pediatric urologists and pediatric radiologists. There was also a lack of agreement on the management of mild intermittent prenatal hydronephrosis, resulting in these cases being managed inconsistently. A unified set of guidelines for

  4. The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

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    Slodki, Maciej; Szymkiewicz-Dangel, Joanna; Tobota, Zdzislaw; Seligman, Neil S; Weiner, Stuart; Respondek-Liberska, Maria

    2012-05-01

    We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management. © 2012 John Wiley & Sons, Ltd.

  5. [Prenatal diagnosis and treatment of fetal choroid plexus cysts].

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    Liang, Mei-Ying; Wang, Hong-Bin; Huang, Xin; Wei, Yan-Qiu

    2007-09-01

    To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts (CPC). From May 2004 to March 2007, 55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied. Each case was studied regarding fetal chromosome karyotype, disappearance weeks of the cyst, the clinical outcome and follow-up results respectively. The cases were diagnosed during 16 - 25 gestational weeks. The diameters of the cysts varied from 0.2 cm to 2.4 cm. There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC. The cysts of all cases who continued pregnancy disappeared before 28 weeks. Fetal chromosome karyotypes were obtained in 50 cases. Among them, two cases were 18-trisomy, and one case was 21-trisomy. Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester. One neonate was diagnosed as ventricular septal defect among 50 cases of follow up. Among these six cases, three were from advanced-age pregnant women, five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm. (1) Fetal CPC can be diagnosed during second trimester, and the majority disappear before 28 gestational weeks. (2) High risk factors for fetal abnormal chromosome karyotype may be: advanced-age pregnant women, abnormal structure of fetus, and the diameter of bilateral or unilateral cyst more than 1.0 cm. It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.

  6. Current approaches on non-invasive prenatal diagnosis: Prenatal genomics, transcriptomics, personalized fetal diagnosis

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    Tuba Günel

    2014-12-01

    Full Text Available Recent developments in molecular genetics improved our knowledge on fetal genome and physiology. Novel scientific innovations in prenatal diagnosis have accelerated in the last decade changing our vision immensely. Data obtained from fetal genomic studies brought new insights to fetal medicine and by the advances in fetal DNA and RNA sequencing technology novel treatment strategies has evolved. Non-invasive prenatal diagnosis found ground in genetics and the results are widely studied in scientific arena. When Lo and colleges proved fetal genetic material can be extracted from maternal plasma and fetal DNA can be isolated from maternal serum, the gate to many exciting discoveries was open. Microarray technology and advances in sequencing helped fetal diagnosis as well as other areas of medicine. Today it is a very crucial prerequisite for physicians practicing prenatal diagnosis to have a profound knowledge in genetics. Prevailing practical use and application of fetal genomic tests in maternal and fetal medicine mandates obstetricians to update their knowledge in genetics. The purpose of this review is to assist physicians to understand and update their knowledge in fetal genetic testing from maternal blood, individualized prenatal counseling and advancements on the subject by sharing our experiences as İstanbul University Fetal Nucleic Acid Research Group.

  7. Value of prenatal MRI in early evaluation of fetal central nervous system anomalies

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    Kobayashi, Keiichi [Kugayama Hospital, Tokyo (Japan); Nakamura, Masanao; Hino, Ken [Kyorin Univ., Mitaka, Tokyo (Japan). School of Medicine] [and others

    2002-08-01

    Advances in technology and the need for accurate prenatal diagnoses have produced great improvements in fetal diagnosis by MRI. However, there are still many problems with diagnosis of central nervous system (CNS) anomalies using MRI (e.g., time of diagnosis, factors limiting diagnostic ability. Fifteen cases referred to our clinic from 1992 to 2001 and examined using intrauterine ultrasound, prenatal MRI and postnatal MRI were reviewed retrospectively. All clinical records and findings from prenatal MRI, postnatal MRI and ultrasound were reviewed. Prenatal MRI was found to be equal in diagnostic power to ultrasound and postnatal MRI in 10 of the 15 cases. In the remaining 5 fetuses, the findings of prenatal MRI were not the same to those of prenatal ultrasound and postnatal MRI. Our goal was to determine the value of prenatal MRI in diagnosis of fetal CNS anomalies, to ascertain how this information might be used for counseling, and to assess its impact on pregnancy management. Prenatal MRI provided useful information for support personnel (e.g., physicians, nurses, caseworkers, religious advisers). (author)

  8. Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele

    NARCIS (Netherlands)

    Kleinrouweler, C. E.; Kuijper, C. F.; van Zalen-Sprock, M. M.; Mathijssen, I. B.; Bilardo, C. M.; Pajkrt, E.

    2011-01-01

    To evaluate the outcome of fetuses with prenatally diagnosed omphalocele and to investigate the predictive value of the omphalocele circumference/abdominal circumference (OC/AC) ratio - a measure for the relative size of the omphalocele. This study includes all fetuses prenatally diagnosed with

  9. Prenatal color Doppler ultrasonographic diagnosis of fetal tetralogy of Fallot

    International Nuclear Information System (INIS)

    Tan Buqiao

    2009-01-01

    Objective: To investigate the sonographic findings of tetralogy of Fallot in fetuses. Methods: The data of color Doppler ultrasonography and follow-up results of 5 fetal tetralogy of Fallot were analyzed retrospectively, and their abnormal ultrasound imaging characteristic were summarized. Results: Two cases were proved tetralogy of Fallot by autopsy, and three cases were confirmed to be tetralogy of Fallot by echocardiography after birth. The image features were the main aorta situated above the ventricular septal defect, pulmonary stenosis, no obvious thickening of the right wall. Conclusion: Fetal tetralogy of Fallot have characteristic ultrasound images, prenatal color Doppler ultrasonographic can diagnoses fetal tetralogy of Fallot correctly and has important clinical value. (authors)

  10. Role of fetal autopsy as a complementary tool to prenatal ultrasound.

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    Godbole, Koumudi; Bhide, Vijayshri; Nerune, Savitri; Kulkarni, Aparna; Moghe, Mrinalini; Kanade, Asawari

    2014-11-01

    To correlate and compare prenatal ultrasound with fetal autopsy examination to detect structural births defects and provide specific diagnoses. 141 second trimester fetuses (autopsy findings in 41/141 (29.07%) cases, additional information that did not influence the final diagnosis and/or counseling was obtained by autopsy in 65/1416 (46.09%) cases, while additional information that influenced the final diagnosis and/or counseling was provided by autopsy in 35/141 (24.82%) cases. Fetal autopsy serves as a complementary tool to fetal ultrasound due to its ability to pick up minor anomalies and/or anomalies that were missed on ultrasound. It may be routinely performed as an attempt to reach a specific diagnosis and offer appropriate counseling to couples, following pregnancy termination for fetal anomalies.

  11. The usage and current approaches of cell free fetal DNA (cffDNA as a prenatal diagnostic method in fetal aneuploidy screening

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    Hülya Erbaba

    2015-12-01

    Full Text Available Prenatal diagnosis of invasive and noninvasive tests can be done in a way (NIPT, but because of the invasive methods have risks of infection and abortion, diagnosing non-invasive procedure increasing day by day. One of the widespread cell free fetal DNA in maternal blood test (cffDNA that is increasing in clinical use has been drawing attention. The incidence of aneuploidy chromosomal anomaly of the kind in which all live births; Trisomy 21 (Down Syndrome 1/800, trisomy 13 (Patau syndrome 1 /10,000, trisomy 18 (Edwards syndrome is a form of 1/6000. Because of the high mortality and morbidity, it is vital that congenital anomalies should be diagnosed in prenatal period. Aneuploidy testing for high-risk pregnant women after the 10th week of pregnancy in terms of the blood sample is taken and free fetal DNA in maternal plasma is based on the measurement of the relative amount. Knowledge of the current criteria for use by healthcare professionals in the field test will allow the exclusion of maternal and fetal risks. In this study, it is aimed to demonstrate current international approaches related to the positive and negative sides of non-invasive that is one of the prenatal diagnostic methods of cffDNA test. J Clin Exp Invest 2015; 6 (4: 414-417

  12. Prenatal ultrasound findings of fetal neoplasms

    International Nuclear Information System (INIS)

    Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

    2002-01-01

    A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical and ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings

  13. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

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    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  14. Prenatal smoking exposure and asymmetric fetal growth restriction

    NARCIS (Netherlands)

    Delpisheh, Ali; Brabin, Loretta; Drummond, Sandra; Brabin, Bernard J.

    2008-01-01

    Background: Prenatal smoking exposure causes intrauterine fetal growth restriction ( IUGR), although its effects on fetal proportionality are less clearly defined. Aim: The present study assessed fetal proportionality in babies with IUGR using maternal salivary cotinine to indicate maternal smoking

  15. [Magnetic resonance imaging as a prenatal diagnostic tool supplementary to ultrasound in diagnosing fetal and gestational abnormalities].

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    Porat, Shay; Agid, Ronit; Elchalal, Uriel; Ezra, Yossi; Gomori, J Moshe; Nadjari, Michelle

    2002-04-01

    The use of Magnetic Resonance Imaging (MRI) as a prenatal and gestational imaging modality supplementary to ultrasound has become widespread with the advent of rapid MR sequences in the last few years. These sequences allow acquisition of high-resolution images of the fetus in a single breath-holding period of the mother, with minimal fetal motion artifacts. We describe our experience with this modality in the diagnosis of prenatal and gestational abnormalities. The study population consisted of 39 pregnant women who had a total of 40 MRI examinations from 7/1998 to 7/2000. The indication for all examinations was a suspected fetal or gestational abnormality as suggested by ultrasound scan, laboratory tests or by family history. In 31 cases (77.5%) a correlation was found between the ultrasound findings and the MR imaging, of which in 6 cases (15%) the MRI added new valuable information. In 9 cases (22.5%) the MRI ruled out findings suspected by ultrasound. The prenatal findings were compared with postnatal clinical follow-up, imaging or pathology report in 26 cases (66.6%). In two cases the clinical outcome and postnatal imaging were discordant with the prenatal imaging findings in ultrasound and MRI. Although not proven, MRI is considered safe during pregnancy because it does not use ionizing radiation. It depicts fetal anatomy and pathology well. Also uterine, placental and other maternal structures are well demonstrated. This tool is useful in cases in which there is a suspicion of a malformed fetus or abnormal placenta by an ultrasound examination or in cases in which an ultrasound examination is limited by technical factors. MRI was found to help parents and doctors decide about the fate of a suspected abnormal pregnancy by adding valuable information supplemental to ultrasound examination.

  16. Mild pyelectasis diagnosed by prenatal ultrasound is not a predictor of urinary tract morbidity in childhood

    NARCIS (Netherlands)

    Damen-Elias, Henny A. M.; Luijnenburg, Saskia E.; Visser, Gerard H. A.; Stoutenbeek, Philip H.; de Jong, Tom P. V. M.

    2005-01-01

    To determine whether children with prenatally diagnosed mild pyelectasis have more urinary tract morbidity during childhood than children without this finding. Case-control study in children with pyelectasis (anteroposterior diameter of the fetal renal pelvis of 5-10 mm). A validated questionnaire

  17. Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI

    International Nuclear Information System (INIS)

    Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu

    1992-01-01

    Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author)

  18. Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future

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    Morris Fiddler

    2014-09-01

    Full Text Available The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed.

  19. Indications and technique of fetal magnetic resonance imaging

    International Nuclear Information System (INIS)

    Asenbaum, U.; Woitek, R.; Furtner, J.; Prayer, D.; Brugger, P.C.

    2013-01-01

    Evaluation and confirmation of fetal pathologies previously suspected or diagnosed with ultrasound. Ultrasound and magnetic resonance imaging (MRI). Technique for prenatal fetal examination. Fetal MRI is an established supplementary technique to prenatal ultrasound. Fetal MRI should only be used as an additional method in prenatal diagnostics and not for routine screening. Fetal MRI should only be performed in perinatal medicine centers after a previous level III ultrasound examination. (orig.) [de

  20. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  1. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis.

    Science.gov (United States)

    Pugash, Denise; Brugger, Peter C; Bettelheim, Dieter; Prayer, Daniela

    2008-11-01

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  2. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

    International Nuclear Information System (INIS)

    Pugash, Denise; Brugger, Peter C.; Bettelheim, Dieter; Prayer, Daniela

    2008-01-01

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information

  3. Prenatal ultrasound and fetal MRI: The comparative value of each modality in prenatal diagnosis

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    Pugash, Denise [Department of Radiology, University of British Columbia, Vancouver (Canada)], E-mail: dpugash@cw.bc.ca; Brugger, Peter C. [Integrative Morphology Group, Centre of Anatomy and Cell Biology, Medical University of Vienna, Waehringerstrasse 13, 1090 Vienna (Austria); Bettelheim, Dieter [University Clinics of Obstetrics and Gynaecology, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria); Prayer, Daniela [University Clinics of Radiodiagnostics, Medical University of Vienna, Waehringerguertel 18-20, 1090 Wien (Austria)

    2008-11-15

    Fetal MRI is used with increasing frequency as an adjunct to ultrasound (US) in prenatal diagnosis. In this review, we discuss the relative value of both prenatal US and MRI in evaluating fetal and extra-fetal structures for a variety of clinical indications. Advantages and disadvantages of each imaging modality are addressed. In summary, MRI has advantages in demonstrating pathology of the brain, lungs, complex syndromes, and conditions associated with reduction of amniotic fluid. At present, US is the imaging method of choice during the first trimester, and in the diagnosis of cardiovascular abnormalities, as well as for screening. In some conditions, such as late gestational age, increased maternal body mass index, skeletal dysplasia, and metabolic disease, neither imaging method may provide sufficient diagnostic information.

  4. Prenatal stress challenge impairs fetal lung development and asthma severity sex-specifically in mice.

    Science.gov (United States)

    Zazara, Dimitra E; Perani, Clara V; Solano, María E; Arck, Petra C

    2018-02-01

    Allergic asthma is an increasing health problem worldwide. Interestingly, prenatal challenges such as stress have been associated with an increased risk for asthma during childhood. The underlying pathogenesis of how prenatal stress increases the risk for asthma still remains unclear. Potential targets could be that the fetal immune ontogeny or fetal lung development are compromised by prenatal challenges. Here, we aimed to identify whether prenatal stress challenge affects fetal lung development in mice. C57BL/6 pregnant mice were challenged with sound stress and fetal lung development was assessed histologically. Whilst prenatal stress challenge did not profoundly affect lung development in male fetuses, it resulted in less extensive terminal sacs, surrounded by thicker mesenchymal tissue in female fetuses. Thus, prenatal stress disrupted fetal lung development sex-specifically. Interestingly, upon prenatal stress challenge, the airway hyperresponsiveness and eosinophilic inflammation- two hallmarks of asthma - were significantly increased in adult female offspring, whilst regulatory CD4+ T cells were reduced. These findings strongly underpin the sex-specific association between s challenged fetal development and a sex-specific altered severity of asthma in adult offspring. Our model now allows to identify maternal markers through which the risk for asthma and possible other diseases is vertically transferred before birth in response to challenges. Such identification then opens avenues for primary disease prevention. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries

    OpenAIRE

    Yu-Ling Liang; Lin Kang; Pei-Ying Tsai; Yueh-Chin Cheng; Huei-Chen Ko; Chiung-Hsin Chang; Fong-Ming Chang

    2013-01-01

    An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management. Objective: To investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011. Materials and Methods: In total, ultrasound (US) detected 52 fetuses with an omphalocele in utero. Results: The incidence of f...

  6. Fetal MRI clues to diagnose cloacal malformations

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    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  7. Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Itoh, Hitoshi; Kakizaki, Dai; Nagai, Atsushi; Akutagawa, Osamu; Itokazu, Isao; Iso, Kazuo; Abe, Kimihiko; Takayama, Masaomi; Nohira, Tomoyoshi

    2003-01-01

    The objective of this study was to evaluate the usefulness of magnetic resonance imaging (MRI) for prenatal diagnosis of fetal lung maturity. The subjects comprised 28 singleton fetuses, and underwent MRI in the third trimester (32.71±3.00 wks). After obtaining axial and coronal scout images of the whole pelvis, we obtained a transverse image, a coronal image and a sagittal image of fetuses with a half-Fourier acquisition single-shot turbo-spin-echo (HASTE) sequence, determined the intensity level of the fetal lung (right lung intensity level: RL, left lung intensity level: LL). The intensity level of background outside of the maternal body was obtained as the control intensity level (CL). The contrast value (CV) of each fetal lung was calculated by the numerical formula; CV=(RL or LL-CL)/CL. We evaluated the changes of CV during the third trimester and relationship between CV and gestational weeks. There was no significant correlation between gestational weeks and RL (P=.3887), LL (P=.2367). There was a significant increase in both right and left CV (RCV=(RL-CL)/CL: P=.0108, LCV=(LL-CL)/CL: P=.0165) with gestational age. It was suggested that the fetal lung maturation could be diagnosed with HASTE using the CV formula. (author)

  8. Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Hitoshi; Kakizaki, Dai; Nagai, Atsushi; Akutagawa, Osamu; Itokazu, Isao; Iso, Kazuo; Abe, Kimihiko; Takayama, Masaomi [Tokyo Medical Coll. (Japan); Nohira, Tomoyoshi [Tokyo Medical Coll. (Japan). Hachioji Medical Center

    2003-04-01

    The objective of this study was to evaluate the usefulness of magnetic resonance imaging (MRI) for prenatal diagnosis of fetal lung maturity. The subjects comprised 28 singleton fetuses, and underwent MRI in the third trimester (32.71{+-}3.00 wks). After obtaining axial and coronal scout images of the whole pelvis, we obtained a transverse image, a coronal image and a sagittal image of fetuses with a half-Fourier acquisition single-shot turbo-spin-echo (HASTE) sequence, determined the intensity level of the fetal lung (right lung intensity level: RL, left lung intensity level: LL). The intensity level of background outside of the maternal body was obtained as the control intensity level (CL). The contrast value (CV) of each fetal lung was calculated by the numerical formula; CV=(RL or LL-CL)/CL. We evaluated the changes of CV during the third trimester and relationship between CV and gestational weeks. There was no significant correlation between gestational weeks and RL (P=.3887), LL (P=.2367). There was a significant increase in both right and left CV (RCV=(RL-CL)/CL: P=.0108, LCV=(LL-CL)/CL: P=.0165) with gestational age. It was suggested that the fetal lung maturation could be diagnosed with HASTE using the CV formula. (author)

  9. Fetal MRI; Fetales MRT

    Energy Technology Data Exchange (ETDEWEB)

    Blondin, D. [Inst. fuer Diagn. Radiologie, Uniklinikum Duesseldorf (Germany); Turowski, B. [Inst. fuer Diagn. Radiologie, Neuroradiologie, Uniklinikum Duesseldorf (Germany); Schaper, J. [Inst. fuer Diagn. Radiologie, Kinderradiologie, Uniklinikum Duesseldorf (Germany)

    2007-02-15

    Ultrasonography is the method of choice for prenatal malformation screening, but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal MRI is increasingly being used to complete sonographic findings. It was initially used for evaluation of cerebral abnormalities but is increasingly being applied to other fetal areas. In vivo investigation of fetal brain maturation has been enhanced by MRI. An adequate analysis of fetal chest and abdomen can be achieved with fast T2-, T1-weighted and diffusion-weighted imaging (DWI). The advantages include the great field of view and the excellent soft tissue contrast. This allows correct diagnosis of congenital diaphragmatic hernia and evaluation of the consequences on pulmonary growth. Other pulmonary malformations, such as cystic adenomatoid malformation, sequestration and brochogenic cysts, can also be easily identified. Renal position can be quickly determined using DWI sequences and renal agenesia can be easily diagnosed with only one sequence. Prenatal MRI is virtually as effective as postnatal examination, dispenses with transport of a potentially very ill newborn, and provides logistic advantages. Therefore, prenatal MRI is useful for adequate postnatal treatment of newborns with malformations. (orig.)

  10. Prenatal Diagnoses with Cordocentesis: Evaluation of 172 Cases

    Directory of Open Access Journals (Sweden)

    Mahmut Erdemoğlu

    2007-01-01

    Full Text Available The aim of this study was to evaluate the results of 172 cordosentesis cases for chromosomal analysis in high risk pregnant patients which were performed in our clinic during 2001 and 2004. Cordosentesis procedure were performed mainly for, fetal anomaly, positive triplescreening test. Fetal chromosomal anomaly ratio was 7.5%. Trisomi 21,18,13 were found in fetal anomaly group. The invasive procedure success rate was %98.8. Cordosentes is a safe and easily performed prenatal diagnosis and treatment method in modern perinatology.

  11. Prenatal Diagnosis Of Tay-Sachs Disease

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease.

  12. Correlation between fetal autopsy and prenatal diagnosis by ultrasound: A systematic review.

    Science.gov (United States)

    Rossi, A Cristina; Prefumo, Federico

    2017-03-01

    The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates. case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal

  13. Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities.

    Science.gov (United States)

    We, Ji Sun; Young, Lee; Park, In Yang; Shin, Jong Chul; Im, Soo Ah

    2012-12-01

    Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities. This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis. Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities. Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.

  14. Maternal and fetal outcome in women with hypertensive disorders of pregnancy: the impact of prenatal care.

    Science.gov (United States)

    Barbosa, Isabela Roberta Cruz; Silva, Wesley Bruno Merencio; Cerqueira, Grace Sanches Gutierrez; Novo, Neil Ferreira; Almeida, Fernando Antonio; Novo, Joe Luiz Vieira Garcia

    2015-08-01

    Hypertensive disorders of pregnancy (HDP) are the most important cause of maternal and fetal death and pregnancy complications in Latin America and the Caribbean. The objective of this study was to characterize the epidemiological profile of women with HDP admitted to a Brazilian tertiary reference hospital, and to evaluate maternal and fetal outcome in each HDP and the impact of prenatal care on the maternal and fetal outcome. HDP in 1501 women were classified according to usual definitions as chronic hypertension (n = 564), pre-eclampsia (n = 579), eclampsia (n = 74) and pre-eclampsia/eclampsia superimposed on chronic hypertension (n = 284). Adverse maternal and fetal outcomes registered as maternal death and near miss and fetal outcomes documented as stillbirth, neonatal death and newborn respiratory complications were compiled. Prenatal care was classified as complete (⩾ 6 visits), incomplete (prenatal care or prenatal not done had progressive higher mortality rates and greater frequency of near miss cases, and their children had higher mortality rates. In a tertiary reference hospital, eclampsia and chronic hypertension superimposed on pre-eclampsia are associated with a worst outcome for mothers and fetuses, whereas complete prenatal care is associated with a better maternal and fetal outcome in HDP. © The Author(s), 2015.

  15. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    Science.gov (United States)

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

  16. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch

    2014-01-01

    Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease...

  17. Follow-up of prenatally diagnosed unilateral hydronephrosis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Lenz, K; Rabol, A

    1996-01-01

    Based on previous experience with prenatally diagnosed unilateral hydronephrosis, we found that the primary indications for surgical intervention should be symptoms or functional impairment of the hydronephrotic kidney. Nonoperative management of neonates without symptoms and with normal function...... of the affected kidney was proposed. However, the strategy of treatment after prenatally diagnosed hydronephrosis is still controversial. We studied 28 consecutive children with suspected unilateral pelviureteral junction obstruction and a normal contralateral kidney. The overall follow-up period varied between 2...

  18. Diagnóstico prenatal no invasivo: Ácidos nucleicos de origen fetal en sangre materna Non invasive prenatal diagnosis: Fetal nucleic acid analysis in maternal blood

    Directory of Open Access Journals (Sweden)

    Carla Sesarini

    2010-12-01

    Full Text Available Las técnicas actuales de diagnóstico prenatal de enfermedades génicas y cromosómicas incluyen procedimientos invasivos que conllevan un pequeño, pero significativo, riesgo. Por muchos años se ha estudiado la posibilidad de utilizar células fetales en circulación materna; sin embargo, ha fracasado su implementación clínica debido a su escasez y persistencia luego del parto. Desde hace más de una década se detectó ADN fetal libre en sangre de embarazadas. Este sería de origen placentario e indetectable después del parto, y fuente de material fetal para el desarrollo de técnicas diagnósticas utilizando sangre materna. No obstante, la mayoría del ADN libre en circulación materna es de origen materno con una contribución fetal del 3% al 6% aumentando a lo largo de la gestación. Dado que los métodos actuales no permiten separar el ADN libre fetal del materno, las aplicaciones se focalizan en el análisis de genes no presentes en la madre, tales como secuencias del cromosoma Y, o gen RHD en madres Rh negativas, o mutaciones paternas o de novo. Asimismo, la detección de ARN fetal libre en sangre de embarazadas abrió la posibilidad de obtener información acerca de patrones de expresión génica de tejidos embrionarios y, utilizando genes que se expresan sólo en la unidad feto-placentaria, se podría establecer un control de presencia de material fetal, independiente del material genético de la madre. El presente trabajo describe las evidencias acerca del pasaje de ácidos nucleicos fetales a circulación materna, su aplicación actual en el diagnóstico prenatal y posibles usos futuros.Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a

  19. A Comparative Analysis of Prenatal Care and Fetal Growth in Eight South American Countries

    Science.gov (United States)

    Woodhouse, Cristina; Lopez Camelo, Jorge; Wehby, George L.

    2014-01-01

    There has been little work that comprehensively compared the relationship between prenatal care and infant health across multiple countries using similar data sources and analytical models. Such comparative analyses are useful for understanding the background of differences in infant health between populations. We evaluated the association between prenatal care visits and fetal growth measured by birth weight (BW) in grams or low birth weight (Prenatal care visits were significantly (at pprenatal care and fetal growth are population-specific and may not be generalizable to other populations. Furthermore, as one of the indicators for a country’s healthcare system for maternal and child health, prenatal care is a highly variable indicator between countries in South America. PMID:24625630

  20. Prenatal Foundations: Fetal Programming of Health and Development

    Science.gov (United States)

    Davis, Elysia Poggi; Thompson, Ross A.

    2014-01-01

    The fetal programming and developmental origins of disease models suggest that experiences that occur before birth can have consequences for physical and mental health that persist across the lifespan. Development is more rapid during the prenatal period as compared to any other stage of life. This introductory article considers evidence that…

  1. Prenatal diagnostic evaluation of fetal ventricular dilatation by MRI; A report of eight cases

    Energy Technology Data Exchange (ETDEWEB)

    Kawabata, Ichiro; Tamaya, Teruhiko; Iwata, Tatsuo; Ando, Takashi; Yamada, Hiromu (Gifu Univ. (Japan). Faculty of Medicine)

    1992-10-01

    Recent advances in MRI have contributed to the antenatal confirmatory diagnosis of fetal anomalies, especially in the fetal brain and central nervous system. In this study, eight infants with fetal ventricular dilatation, suggested by prenatal ultrasonography, were evaluated with confirmatory diagnosis by MRI (SIGNA; General Electric Company, 1.5 tesla). These anomalies were demonstrated at 19 to 36 weeks by ultrasonography. One of the eight died in utero at 22 weeks of gestation, another one day after birth (33 weeks of gestation). Two were delivered by Cesarean section. It has been proved that clear and effective images can be obtained by mother's walking without sedative drugs. Fetal MRI gave clear images not only in fetal horizontal section, but also in sagittal section, which is usually difficult to obtain by ultrasonography. Confirmatory diagnosis of eight cases were obtained by MRI. Fetal MRI can provide an effective prenatal diagnosis, especially in cases of fetal brain anomaly, even when compared with postnatal CT findings. (author).

  2. Prenatal cerebellar growth trajectories and the impact of periconceptional maternal and fetal factors

    NARCIS (Netherlands)

    Koning, I V; Dudink, J; Groenenberg, I A L; Willemsen, S P; Reiss, I K M; Steegers-Theunissen, R P M

    2017-01-01

    STUDY QUESTION: CAN WE assess human prenatal cerebellar growth from the first until the third trimester of pregnancy and create growth trajectories to investigate associations with periconceptional maternal and fetal characteristics? SUMMARY ANSWER: Prenatal growth trajectories of the human

  3. Recent advances in the prenatal interrogation of the human fetal genome.

    Science.gov (United States)

    Hui, Lisa; Bianchi, Diana W

    2013-02-01

    The amount of genetic and genomic information obtainable from the human fetus during pregnancy is accelerating at an unprecedented rate. Two themes have dominated recent technological advances in prenatal diagnosis: interrogation of the fetal genome in increasingly high resolution and the development of non-invasive methods of fetal testing using cell-free DNA in maternal plasma. These two areas of advancement have now converged with several recent reports of non-invasive assessment of the entire fetal genome from maternal blood. However, technological progress is outpacing the ability of the healthcare providers and patients to incorporate these new tests into existing clinical care, and further complicates many of the economic and ethical dilemmas in prenatal diagnosis. This review summarizes recent work in this field and discusses the integration of these new technologies into the clinic and society. Copyright © 2012 Elsevier Ltd. All rights reserved.

  4. Reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women

    DEFF Research Database (Denmark)

    Clausen, Frederik Banch; Krog, Grethe Risum; Rieneck, Klaus

    2005-01-01

    The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis.......The objective of this study was to establish a reliable test for prenatal prediction of fetal RhD type using maternal plasma from RhD negative women. This test is needed for future prenatal Rh prophylaxis....

  5. Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

    DEFF Research Database (Denmark)

    Hauerberg, Laura; Skibsted, Lillian; Graem, Niels

    2012-01-01

    We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between...... ultrasound and autopsy. In 23 fetuses, the main diagnosis was confirmed and additional or more specific findings were observed on autopsy. In five fetuses, there were considerable differences. Discrepancies between ultrasound and autopsy findings were mainly anomalies undetectable by ultrasound and thus...... expected; however, about one-third of the discrepancies were not expected, representing findings that were 'missed' at ultrasound. The main ultrasound diagnoses were confirmed in the majority of the pregnancies, but the additional information obtained at autopsy in more than half of the fetuses clearly...

  6. Prenatal nicotinic exposure suppresses fetal adrenal steroidogenesis via steroidogenic factor 1 (SF-1) deacetylation

    Energy Technology Data Exchange (ETDEWEB)

    Yan, You-e [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan (China); Liu, Lian [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan (China); Department of Pharmacology, Medical School of Yangtze University, Jingzhou 434000 (China); Wang, Jian-fei; Liu, Fang; Li, Xiao-hai; Qin, Hai-quan [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan (China); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China)

    2014-06-15

    This study aimed to investigate the suppressive effect of nicotine on fetal adrenal steroidogenesis and to explore the potential role of epigenetic modification of steroidogenic factor-1 (SF-1) transcriptional activity in this process. Nicotine was intragastrically administered to pregnant rats and NCI-H295A cells were treated with nicotine or trichostatin A (TSA). The pathomorphology of fetal adrenals, steroid hormone levels, the expression of SF-1 and its target genes, and histone deacetylase (HDAC) mRNA were analyzed. Histone modification and DNA methylation of the SF-1 promoter region were assessed using chromatin immunoprecipitation (ChIP) and bisulfite sequencing PCR. The interaction between SF1 and its target genes was observed. Prenatal nicotinic exposure decreased fetal body weight, increased the IUGR rate and caused detrimental changes in fetal adrenal. In addition, the levels of corticosterone, the expression of SF-1 and its target genes were decreased while HDAC2 expression was enhanced. Nicotine treatment decreased histone H3K9 and H3K14 acetylation levels while there was no effect on the methylation frequency on the SF-1 promoter region. Furthermore, in nicotine-treated NCI-H295A cells, lower levels of steroidogenic synthesis, lower expression of SF-1 and its target genes were observed while the expression of HDACs was enhanced. The interaction between SF1 and StAR decreased with nicotine treatment. Nicotine treatment decreased histone H3K9 and H3K14 acetylation levels, and addition of TSA reversed the inhibition of nicotine-mediated SF-1 and its partial target genes. Thus, nicotine-mediated reduction of SF-1 expression resulted in an inhibitory effect on the expression of its target genes and steroid production via histone deacetylation. - Highlights: • Prenatal nicotine-exposed suppresses fetal adrenal steroidogenesis. • Nicotine-supressed fetal adrenal steroidogenesis is related to SF-1 deacetylation. • Prenatal nicotinic exposure decreased

  7. Prenatal nicotinic exposure suppresses fetal adrenal steroidogenesis via steroidogenic factor 1 (SF-1) deacetylation

    International Nuclear Information System (INIS)

    Yan, You-e; Liu, Lian; Wang, Jian-fei; Liu, Fang; Li, Xiao-hai; Qin, Hai-quan; Wang, Hui

    2014-01-01

    This study aimed to investigate the suppressive effect of nicotine on fetal adrenal steroidogenesis and to explore the potential role of epigenetic modification of steroidogenic factor-1 (SF-1) transcriptional activity in this process. Nicotine was intragastrically administered to pregnant rats and NCI-H295A cells were treated with nicotine or trichostatin A (TSA). The pathomorphology of fetal adrenals, steroid hormone levels, the expression of SF-1 and its target genes, and histone deacetylase (HDAC) mRNA were analyzed. Histone modification and DNA methylation of the SF-1 promoter region were assessed using chromatin immunoprecipitation (ChIP) and bisulfite sequencing PCR. The interaction between SF1 and its target genes was observed. Prenatal nicotinic exposure decreased fetal body weight, increased the IUGR rate and caused detrimental changes in fetal adrenal. In addition, the levels of corticosterone, the expression of SF-1 and its target genes were decreased while HDAC2 expression was enhanced. Nicotine treatment decreased histone H3K9 and H3K14 acetylation levels while there was no effect on the methylation frequency on the SF-1 promoter region. Furthermore, in nicotine-treated NCI-H295A cells, lower levels of steroidogenic synthesis, lower expression of SF-1 and its target genes were observed while the expression of HDACs was enhanced. The interaction between SF1 and StAR decreased with nicotine treatment. Nicotine treatment decreased histone H3K9 and H3K14 acetylation levels, and addition of TSA reversed the inhibition of nicotine-mediated SF-1 and its partial target genes. Thus, nicotine-mediated reduction of SF-1 expression resulted in an inhibitory effect on the expression of its target genes and steroid production via histone deacetylation. - Highlights: • Prenatal nicotine-exposed suppresses fetal adrenal steroidogenesis. • Nicotine-supressed fetal adrenal steroidogenesis is related to SF-1 deacetylation. • Prenatal nicotinic exposure decreased

  8. MRI of the fetal spine

    Energy Technology Data Exchange (ETDEWEB)

    Simon, Erin M. [Departement of Radiology, Children' s Hospital of Philadelphia, PA (United States)

    2004-09-01

    Magnetic resonance imaging of the fetal spine is a vital complement to fetal sonographic examination. Assessing the wide spectrum of spinal dysraphism, as well as spinal neoplasia, allows for more correct prenatal diagnoses, patient care planning, and patient counselling. Proper appraisal of the value of experimental procedures, such as fetal myelomeningocoele repair, requires a high level of diagnostic accuracy for the selection and follow-up of appropriate candidates. (orig.)

  9. MRI of the fetal spine

    International Nuclear Information System (INIS)

    Simon, Erin M.

    2004-01-01

    Magnetic resonance imaging of the fetal spine is a vital complement to fetal sonographic examination. Assessing the wide spectrum of spinal dysraphism, as well as spinal neoplasia, allows for more correct prenatal diagnoses, patient care planning, and patient counselling. Proper appraisal of the value of experimental procedures, such as fetal myelomeningocoele repair, requires a high level of diagnostic accuracy for the selection and follow-up of appropriate candidates. (orig.)

  10. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

    NARCIS (Netherlands)

    Chitty, Lyn S.; Khalil, Asma; Barrett, Angela N.; Pajkrt, Eva; Griffin, David R.; Cole, Tim J.

    2013-01-01

    To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Fetuses with a confirmed

  11. Ultrasound diagnosis and monitoring of fetal tachyarrhythmias

    Directory of Open Access Journals (Sweden)

    Yu.А. Ivaniv

    2017-12-01

    Full Text Available The aim – to evaluate the efficiency of prenatal echocardiography in detecting, differential diagnosis and monitoring fetuses with tachyarrhythmias. Materials and methods. Investigations performed in a single center from April 1996 to July 2016 were analysed. During this study 2,073 pregnant women were examined and 213 cases of fetal arrhythmia were found (10.3 %. Prenatal echocardiography was conducted by general protocol, each examination were fixed and saved in electronic and paper form. Results. During this period 25 cases of fetal tachyarrhythmias were diagnosed, representing 11.7 % of all cases of arrhythmia and 1.2 % of all fetal heart examinations. In five fetuses tachyarrhythmia was combined with structural heart disorders, which constitutes 20 % among all tachyarrhythmias. Most fetal tachyarrhythmias (21 were diagnosed during third trimester of pregnancy. The most common fetal tachyarrhythmia was atrioventricular «re-entry» tachycardia – 14 cases (56 %. None case of this group was combined with structural cardiac pathology, however, almost half were accompanied by hemodynamic complications. Drug treatment was effective in this group. Atrial fibrillation was second prevalent in our study, 4 cases (16 % – dangerous arrhythmia, which in most fetuses caused circulatory failure, being combined with congenital heart defect or myocardial pathology. Drug treatment in this group is less effective, depending on comorbidity and age pregnancy. We diagnosed 4 cases of sinus tachycardia (16 %, largely having benign course in the prenatal period and not requiring drug treatment. Prognosis of pregnancy is determined by concomitant diseases of the fetus. One case (4 % of atrial flutter required preterm delivery through the hemodynamic complications. Ectopic atrial tachycardia was diagnosed in two fetuses (8 %. This arrhythmia is insensitive to medical treatment and may persist after birth. Conclusions. Clinical management of pregnancy, the need

  12. Indications and technique of fetal magnetic resonance imaging; Indikationen und Technik der fetalen Magnetresonanztomographie

    Energy Technology Data Exchange (ETDEWEB)

    Asenbaum, U.; Woitek, R.; Furtner, J.; Prayer, D. [Medizinische Universitaet Wien, Abteilung fuer Neuroradiologie und Muskuloskelettale Radiologie, Universitaetsklinik fuer Radiodiagnostik, Wien (Austria); Brugger, P.C. [Medizinische Universitaet Wien, Zentrum fuer Anatomie und Zellbiologie, Wien (Austria)

    2013-02-15

    Evaluation and confirmation of fetal pathologies previously suspected or diagnosed with ultrasound. Ultrasound and magnetic resonance imaging (MRI). Technique for prenatal fetal examination. Fetal MRI is an established supplementary technique to prenatal ultrasound. Fetal MRI should only be used as an additional method in prenatal diagnostics and not for routine screening. Fetal MRI should only be performed in perinatal medicine centers after a previous level III ultrasound examination. (orig.) [German] Evaluierung und Bestaetigung von im praenatalen Ultraschall entdeckten Pathologien. Ultraschall und Magnetresonanztomographie. Praenatale Untersuchungsmethode. Die fetale MRT ist inzwischen als ergaenzende Methode zum praenatalen Ultraschall anerkannt. Die fetale MRT soll als additive Methode bei klinischer Relevanz, nicht jedoch als Routinescreeningverfahren waehrend der Schwangerschaft angewendet werden. Durchfuehrung ausschliesslich an einem Perinatalzentrum nach vorangegangenem Level-III-Ultraschall. (orig.)

  13. Fetal adrenal gland enlargement - prenatal and postnatal management.

    Science.gov (United States)

    Lackova, Eliska; Cunderlik, Anton; Ticha, Lubica; Gabor, Maria

    2017-11-01

    The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded. We have analyzed 6 years of medical records of all cases from the western Slovakia region of suprarenal gland enlargement encountered to 1st Pediatric Department, Children's University Hospital Bratislava Republic in the time period of January 2010 to Janurary 2016. The diagnosis of suprarenal gland enlargement was set by ultrasound examination performed on the 4th postnatal day as an overall screening test. Newborns with positive laboratory screening on congenital adrenal hyperplasia (CAH) were excluded from our study. We analyzed the origin of surarenal gland enlargement, gestation week on the due date, the birth weight and other comorbidities and genetic pathologies in newborns with the enlarged suprarenal glands. There were 6 newborns followed up due to suprarenal gland enlargement. All of the patients had diagnosed the adrenal haemorrhage. Adrenal lesions like adrenal cysts or neuroblastomas were not confirmed. All of the adrenal enlargements were benign with no need of other medical or surgical intervention. None of the newborn patients had other genetic abnormalities, mineral or hormonal imbalances, problems with arterial pressure or haemodynamic instability. All of the patients underwent at least 5 prenatal ultrasound tests and at least 2 postnatal ultrasound measurements. The avarage birth weight was 3030 grams (2700 grams - to 3750 grams). The avarage birth lenght was 50 cm (47 centimeter to 53 cm).The average gestation week (gw) on due date

  14. Thiamin deficiency on fetal brain development with and without prenatal alcohol exposure.

    Science.gov (United States)

    Kloss, Olena; Eskin, N A Michael; Suh, Miyoung

    2018-04-01

    Adequate thiamin levels are crucial for optimal health through maintenance of homeostasis and viability of metabolic enzymes, which require thiamine as a co-factor. Thiamin deficiency occurs during pregnancy when the dietary intake is inadequate or excessive alcohol is consumed. Thiamin deficiency leads to brain dysfunction because thiamin is involved in the synthesis of myelin and neurotransmitters (e.g., acetylcholine, γ-aminobutyric acid, glutamate), and its deficiency increases oxidative stress by decreasing the production of reducing agents. Thiamin deficiency also leads to neural membrane dysfunction, because thiamin is a structural component of mitochondrial and synaptosomal membranes. Similarly, in-utero exposure to alcohol leads to fetal brain dysfunction, resulting in negative effects such as fetal alcohol spectrum disorder (FASD). Thiamin deficiency and prenatal exposure to alcohol could act synergistically to produce negative effects on fetal development; however, this area of research is currently under-studied. This minireview summarizes the evidence for the potential role of thiamin deficiency in fetal brain development, with or without prenatal exposure to alcohol. Such evidence may influence the development of new nutritional strategies for preventing or mitigating the symptoms of FASD.

  15. Antepartum sonographically directed computerized tomography in evaluation of a fetal intracranial tumor

    International Nuclear Information System (INIS)

    Thomas, R.L.; Hess, L.W.; Johnson, T.R.B.; Johns Hopkins Univ., Baltimore, MD

    1988-01-01

    The case presented involves prenatal diagnosis of a fetal intracranial tumor. The case demonstrates some of the technical and ethical dilemmas involved in prenatal diagnoses and subsequent parental counselling. 15 refs.; 4 figs.; 1 table

  16. Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Ji Eun; Seo, Jeong Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  17. Prenatal screening for fetal aneuploidy in singleton pregnancies.

    Science.gov (United States)

    Chitayat, David; Langlois, Sylvie; Douglas Wilson, R

    2011-07-01

    To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary. This document reviews the options available for non-invasive screening and makes recommendations for Canadian patients and health care workers. To offer non-invasive screening for fetal aneuploidy (trisomy 13, 18, 21) to all pregnant women. Invasive prenatal diagnosis would be offered to women who screen above a set risk cut-off level on non-invasive screening or to pregnant women whose personal, obstetrical, or family history places them at increased risk. Currently available non-invasive screening options include maternal age combined with one of the following: (1) first trimester screening (nuchal translucency, maternal age, and maternal serum biochemical markers), (2) second trimester serum screening (maternal age and maternal serum biochemical markers), or (3) 2-step integrated screening, which includes first and second trimester serum screening with or without nuchal translucency (integrated prenatal screen, serum integrated prenatal screening, contingent, and sequential). These options are reviewed, and recommendations are made. Studies published between 1982 and 2009 were retrieved through searches of PubMed or Medline and CINAHL and the Cochrane Library, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis). Results were restricted to systematic reviews, randomized controlled trials, and relevant observational

  18. Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Pediatric Surgery and Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Stanek, Jerzy [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

    2014-04-15

    We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

  19. Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

    International Nuclear Information System (INIS)

    Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M.; Lim, Foong-Yen; Stanek, Jerzy

    2014-01-01

    We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

  20. The use of non-invasive fetal electrocardiography in diagnosing second-degree fetal atrioventricular block.

    Science.gov (United States)

    Lakhno, Igor; Behar, Joachim A; Oster, Julien; Shulgin, Vyacheslav; Ostras, Oleksii; Andreotti, Fernando

    2017-01-01

    Complete atrioventricular block in fetuses is known to be mostly associated with autoimmune disease and can be irreversible if no steroids treatment is provided. Conventional methods used in clinical practice for diagnosing fetal arrhythmia are limited since they do not reflect the primary electrophysiological conduction processes that take place in the myocardium. The non-invasive fetal electrocardiogram has the potential to better support fetal arrhythmias diagnosis through the continuous analysis of the beat to beat variation of the fetal heart rate and morphological analysis of the PQRST complex. We present two retrospective case reports on which atrioventricular block diagnosis could have been supported by the non-invasive fetal electrocardiogram. The two cases comprised a 22-year-old pregnant woman with the gestational age of 31 weeks and a 25-year-old pregnant woman with the gestational age of 41 weeks. Both women were admitted to the Department of Maternal and Fetal Medicine at the Kyiv and Kharkiv municipal perinatal clinics. Patients were observed using standard fetal monitoring methods as well as the non-invasive fetal electrocardiogram. The non-invasive fetal electrocardiographic recordings were analyzed retrospectively, where it is possible to identify the presence of the atrioventricular block. This study demonstrates, for the first time, the feasibility of the non-invasive fetal electrocardiogram as a supplementary method to diagnose of the fetal atrioventricular block. Combined with current fetal monitoring techniques, non-invasive fetal electrocardiography could support clinical decisions.

  1. Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Zielinsky Paulo

    2000-01-01

    Full Text Available Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases. Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.

  2. Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US

    International Nuclear Information System (INIS)

    Neuman, Jeremy; Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Bitters, Constance; Merrow, Arnold C.; Guimaraes, Carolina V.A.; Lim, Foong-Yen

    2012-01-01

    Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated. (orig.)

  3. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing.

    NARCIS (Netherlands)

    Chen, E.Z.; Chiu, R.W.; Sun, H; Akolekar, R.; Chan, K.C.; Leung, T.Y.; Jiang, P.; Zheng, Y.W.; Lun, F.M.; Chan, L.Y.; Jin, Y.; Go, A.T.; Lau, E.T; To, W.W.; Leung, W.C.; Tang, R.Y.; Au-Yeung, S.K.; Lam, H.; Kung, Y.Y.; Zhang, X.; Vugt, J.M.G. van; Minekawa, R.; Tang, M.H.; Wang, J.; Oudejans, C.B.; Lau, T.K.; Nicolaides, K.H.; Lo, Y.M.

    2011-01-01

    Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due

  4. Development of prenatal lateralization: evidence from fetal mouth movements.

    Science.gov (United States)

    Reissland, N; Francis, B; Aydin, E; Mason, J; Exley, K

    2014-05-28

    Human lateralized behaviors relate to the asymmetric development of the brain. Research of the prenatal origins of laterality is equivocal with some studies suggesting that fetuses exhibit lateralized behavior and other not finding such laterality. Given that by around 22weeks of gestation the left cerebral hemisphere compared to the right is significantly larger in both male and female fetuses we expected that the right side of the fetal face would show more movement with increased gestation. This longitudinal study investigated whether fetuses from 24 to 36weeks of gestation showed increasing lateralized behaviors during mouth opening and whether lateralized mouth movements are related to fetal age, gender and maternal self-reported prenatal stress. Following ethical approval, fifteen healthy fetuses (8 girls) of primagravid mothers were scanned four times from 24 to 36-gestation. Two types of mouth opening movements - upper lip raiser and mouth stretch - were coded in 60 scans for 10min. We modeled the proportion of right mouth opening for each fetal scan using a generalized linear mixed model, which takes account of the repeated measures design. There was a significant increase in the proportion of lateralized mouth openings over the period increasing by 11% for each week of gestational age (LRT change in deviance=10.92, 1df; pgender differences were found nor was there any effect of maternally reported stress on fetal lateralized mouth movements. There was also evidence of left lateralization preference in mouth movement, although no evidence of changes in lateralization bias over time. This longitudinal study provides important new insights into the development of lateralized mouth movements from 24 to 36 weeks of gestation. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects.

    Science.gov (United States)

    Wilson, R Douglas

    2014-10-01

    To provide obstetrical and genetic health care practitioners with guidelines and recommendations for prenatal screening, diagnosis, and obstetrical management of fetal open and closed neural tube defects (OCNTD). This review includes prenatal screening and diagnostic techniques currently being used for the detection of OCNTD including maternal serum alpha fetoprotein screening, ultrasound, fetal magnetic resonance imaging, and amniocentesis. To improve prenatal screening, diagnosis, and obstetrical management of OCNTD while taking into consideration patient care, efficacy, cost, and care procedures. Published literature was retrieved through searches of PubMed or MEDLINE, CINAHL, and The Cochrane Library in November, 2013, using appropriate controlled vocabulary and key words (e.g., prenatal screening, congenital anomalies, neural tube defects, alpha fetoprotein, ultrasound scan, magnetic resonance imaging). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English from 1977 to 2012. Searches were updated on a regular basis and incorporated in the guideline to November 30, 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. An online survey of health care practitioners was also reviewed. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table). This review will provide health care practitioners with a better understanding of the available prenatal screening methods for OCNTD and the benefits and risks associated with each technique to allow evidenced-based decisions on OCNTD screening, diagnosis, and obstetrical management.

  6. Increased DNA methylation of scavenger receptor class B type I contributes to inhibitory effects of prenatal caffeine ingestion on cholesterol uptake and steroidogenesis in fetal adrenals

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Dong-Mei; He, Zheng; Ma, Liang-Peng; Wang, Lin-Long [Department of Pharmacology, Wuhan University School of Basic Medical Sciences, Wuhan 430071 (China); Ping, Jie, E-mail: pingjie@whu.edu.cn [Department of Pharmacology, Wuhan University School of Basic Medical Sciences, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan 430071 (China); Wang, Hui [Department of Pharmacology, Wuhan University School of Basic Medical Sciences, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan 430071 (China)

    2015-06-01

    Steroid hormones synthesized from cholesterol in the fetal adrenal are crucial for fetal development. We have observed the inhibited fetal adrenal corticosterone synthesis and increased intrauterine growth retardation (IUGR) rate in rats under prenatal caffeine ingestion. The aim of this study is to evaluate the effects of prenatal caffeine ingestion on cholesterol supply in fetal adrenal steroidogenesis in rats and explore the underlying epigenetic mechanisms. Pregnant Wistar rats were treated with 60 mg/kg·d caffeine from gestational day (GD) 7 to GD17. Histological changes of fetal adrenals and increased IUGR rates were observed in the caffeine group. There were significantly decreased steroid hormone contents and cholesterol supply in caffeine-treated fetal adrenals. Data from the gene expression array suggested that prenatal caffeine ingestion caused increased expression of genes related to DNA methylation and decreased expression of genes related to cholesterol uptake. The following conjoint analysis of DNA methylation array with these differentially expressed genes suggested that scavenger receptor class B type I (SR-BI) may play an important role in caffeine-induced cholesterol supply deficiency. Moreover, real-time RT-PCR and immunohistochemical detection certified the inhibitory effects of caffeine on both mRNA expression and protein expression of SR-BI in the fetal adrenal. And the increased DNA methylation frequency in the proximal promoter of SR-BI was confirmed by bisulfite-sequencing PCR. In conclusion, prenatal caffeine ingestion can induce DNA hypermethylation of the SR-BI promoter in the rat fetal adrenal. These effects may lead to decreased SR-BI expression and cholesterol uptake, which inhibits steroidogenesis in the fetal adrenal. - Highlights: • Prenatal caffeine ingestion inhibits steroid hormone production in the fetal adrenal. • Prenatal caffeine ingestion inhibits cholesterol uptake in the fetal adrenal. • Prenatal caffeine

  7. Increased DNA methylation of scavenger receptor class B type I contributes to inhibitory effects of prenatal caffeine ingestion on cholesterol uptake and steroidogenesis in fetal adrenals

    International Nuclear Information System (INIS)

    Wu, Dong-Mei; He, Zheng; Ma, Liang-Peng; Wang, Lin-Long; Ping, Jie; Wang, Hui

    2015-01-01

    Steroid hormones synthesized from cholesterol in the fetal adrenal are crucial for fetal development. We have observed the inhibited fetal adrenal corticosterone synthesis and increased intrauterine growth retardation (IUGR) rate in rats under prenatal caffeine ingestion. The aim of this study is to evaluate the effects of prenatal caffeine ingestion on cholesterol supply in fetal adrenal steroidogenesis in rats and explore the underlying epigenetic mechanisms. Pregnant Wistar rats were treated with 60 mg/kg·d caffeine from gestational day (GD) 7 to GD17. Histological changes of fetal adrenals and increased IUGR rates were observed in the caffeine group. There were significantly decreased steroid hormone contents and cholesterol supply in caffeine-treated fetal adrenals. Data from the gene expression array suggested that prenatal caffeine ingestion caused increased expression of genes related to DNA methylation and decreased expression of genes related to cholesterol uptake. The following conjoint analysis of DNA methylation array with these differentially expressed genes suggested that scavenger receptor class B type I (SR-BI) may play an important role in caffeine-induced cholesterol supply deficiency. Moreover, real-time RT-PCR and immunohistochemical detection certified the inhibitory effects of caffeine on both mRNA expression and protein expression of SR-BI in the fetal adrenal. And the increased DNA methylation frequency in the proximal promoter of SR-BI was confirmed by bisulfite-sequencing PCR. In conclusion, prenatal caffeine ingestion can induce DNA hypermethylation of the SR-BI promoter in the rat fetal adrenal. These effects may lead to decreased SR-BI expression and cholesterol uptake, which inhibits steroidogenesis in the fetal adrenal. - Highlights: • Prenatal caffeine ingestion inhibits steroid hormone production in the fetal adrenal. • Prenatal caffeine ingestion inhibits cholesterol uptake in the fetal adrenal. • Prenatal caffeine

  8. Developmental programming: impact of excess prenatal testosterone on intrauterine fetal endocrine milieu and growth in sheep.

    Science.gov (United States)

    Veiga-Lopez, Almudena; Steckler, Teresa L; Abbott, David H; Welch, Kathleen B; MohanKumar, Puliyur S; Phillips, David J; Refsal, Kent; Padmanabhan, Vasantha

    2011-01-01

    Prenatal testosterone excess in sheep leads to reproductive and metabolic disruptions that mimic those seen in women with polycystic ovary syndrome. Comparison of prenatal testosterone-treated sheep with prenatal dihydrotestosterone-treated sheep suggests facilitation of defects by androgenic as well as androgen-independent effects of testosterone. We hypothesized that the disruptive impact of prenatal testosterone on adult pathology may partially depend on its conversion to estrogen and consequent changes in maternal and fetal endocrine environments. Pregnant Suffolk sheep were administered either cottonseed oil (control) or testosterone propionate in cottonseed oil (100 mg, i.m. twice weekly), from Day 30 to Day 90 of gestation (term is ~147 d). Maternal (uterine) and fetal (umbilical) arterial samples were collected at Days 64-66, 87-90, and 139-140 (range; referred to as D65, D90, and D140, respectively) of gestation. Concentrations of gonadal and metabolic hormones, as well as differentiation factors, were measured using liquid chromatography/mass spectrometer, radioimmunoassay, or ELISA. Findings indicate that testosterone treatment produced maternal and fetal testosterone levels comparable to adult males and D65 control male fetuses, respectively. Testosterone treatment increased fetal estradiol and estrone levels during the treatment period in both sexes, supportive of placental aromatization of testosterone. These steroidal changes were followed by a reduction in maternal estradiol levels at term, a reduction in activin A availability, and induction of intrauterine growth restriction in D140 female fetuses. Overall, our findings provide the first direct evidence in support of the potential for both androgenic as well as estrogenic contribution in the development of adult reproductive and metabolic pathology in prenatal testosterone-treated sheep.

  9. Breaking bad news in prenatal medicine: a literature review.

    Science.gov (United States)

    Luz, Rita; George, Astrid; Spitz, Elisabeth; Vieux, Rachel

    2017-02-01

    The diagnosis of a fetal anomaly in perinatal medicine forces expectant parents and healthcare providers to face the difficult process of breaking bad news. This exploratory literature review was aimed at providing a medical and psychological view of the psychological experience in expectant parents and physicians in the context of prenatal diagnosis of a fetal anomaly. An exploratory search of PubMed and PsycINFO/PsycARTICLES databases performed by an interdisciplinary team composed of a physician and psychologists. Search terms were: prenatal diagnosis AND bad news; prenatal diagnosis AND psychological consequences; prenatal diagnosis AND psychological sequelae; prenatal diagnosis AND fetal abnormality. The processing of selected articles followed a standardised five-step procedure. A total of 860 articles were screened of which 32 were retained for analysis. Four main themes emerged from the explanatory content analysis: (1) parents' subjective experience; (2) physicians' subjective experience; (3) encounters between expectant parents and professionals; and (4) ethical challenges in breaking bad news in prenatal medicine. Expectant parents go through a complex and multidimensional experience when the diagnosis of a fetal anomaly is disclosed. Simultaneously, physicians consider breaking bad news as a very stressful event and are poorly prepared in this regard. A better knowledge of factors underlying psychological adjustment of the parental dyad and on the subjective experience of physicians delivering these diagnoses could enable better adaptation for both patients and professionals.

  10. Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2006-01-01

    Full Text Available Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC. TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI at 36 weeks' gestation showed cardiac rhab-domyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan to TGA (stop codon. The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

  11. When One Knows a Fetus Is Expected to Die: Palliative Care in the Context of Prenatal Diagnosis of Fetal Malformations.

    Science.gov (United States)

    Rocha Catania, Taisa; Bernardes, Lisandra; Guerra Benute, Glaucia Rosana; Bento Cicaroni Gibeli, Maria Augusta; Bertolassi do Nascimento, Nathalia; Aparecida Barbosa, Tercilia Virginia; Jornada Krebs, Vera Lucia; Francisco, Rossana P V

    2017-09-01

    Fetal malformations occur in 2% of gestations and are the fifth most common cause of neonatal death in the world. In many cases, fetal malformations result in neonatal death or long stay in intensive care facilities. Families that continue the pregnancy in such a situation need to make choices and cope with an overwhelming number of potential issues. Palliative care starting at the prenatal period is a growing field that allows the entire family to prepare for this difficult situation. To perform a systematic review of published data on palliative care in the prenatal period. PubMed and the Cochrane Library were searched using the keywords ("perinatal" OR "prenatal" OR "fetal") AND "palliative care" and also ("perinatal" OR "prenatal" OR "fetal") AND "hospice." Studies focusing on the long-term impact of prenatal palliative care published up to December 2015 were used. Quantitative and qualitative studies. In total, 541 studies were retrieved; 29 articles met the inclusion criteria. Studies were organized into different categories according to the design or main focus. The majority of studies retrieved were reflexives or presented a narrative proposal on palliative care started in the prenatal period (45%). Clinical studies comprised 17% of all articles found. No studies were found on the long-term impact of prenatal palliative care. Prenatal palliative care is a growing field and an important supportive care measure that can help grieving parents and families who do not want to or cannot interrupt their pregnancy. More studies should be carried out, specifically concerning long-term impact of prenatal palliative care. Guidelines and training of health professionals must be developed so that more families can benefit from this type of care.

  12. Fetal suprarenal masses - assessing the complementary role of magnetic resonance and ultrasound for diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Flanagan, Siobhan M. [University of Minnesota Medical School, Department of Radiology, Minneapolis, MN (United States); Rubesova, Erika; Barth, Richard A. [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Jaramillo, Diego [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States)

    2016-02-15

    To assess the value and complementary roles of fetal MRI and US for characterization and diagnosis of suprarenal masses. We conducted a multi-institutional retrospective database search for prenatally diagnosed suprarenal masses between 1999 and 2012 and evaluated the roles of prenatal US and fetal MRI for characterization and diagnosis, using postnatal diagnosis or surgical pathology as the reference standard. Prenatal US and fetal MRI were assessed for unique findings of each modality. The database yielded 25 fetuses (gestational age 20-37 weeks) with suprarenal masses. Twenty-one fetuses had prenatal US, 22 had MRI, 17 had both. Postnatal diagnoses included nine subdiaphragmatic extralobar sequestrations, seven adrenal hemorrhages, five neuroblastomas (four metastatic), two lymphatic malformations, one duplex kidney with upper pole cystic dysplasia, and one adrenal hyperplasia. Ultrasound was concordant with MRI for diagnoses in 12/17 (70.6%) cases. Discordant diagnoses between US and MRI included three neuroblastomas and two adrenal hemorrhages. In the three neuroblastomas US was equivocal and MRI was definitive for neuroblastoma, demonstrating heterogeneous, intermediate-signal solid masses and liver metastases. In the two cases of adrenal hemorrhage US was equivocal and MRI was definitive with signal characteristics of hemorrhage. In 2/4 neuroblastomas, Doppler US demonstrated a systemic artery suggesting extralobar sequestration; however MRI signal characteristics correctly diagnosed neuroblastoma. All cases of extralobar sequestration were correctly diagnosed by US and MRI. US and MRI both accurately detect suprarenal masses. MRI complements US in equivocal diagnoses and detects additional findings such as liver metastases in neuroblastoma. (orig.)

  13. [Recurrence of common truncus arteriosus. Prenatal diagnosis of a case report].

    Science.gov (United States)

    Ferry, P; Massias, C; Salzard, C; Anguill, C; Olleac, A; Quentin, M

    1994-01-01

    We report a case of isolated truncus arteriosis diagnosed prenatally which recurred during a subsequent pregnancy. This observation would suggest an increased risk of recurrent single trunk malformation as compared with other congenital heart diseases, in agreement with our understanding of the genetic processes involved. A prenatal screening can be achieved with a systematic examination of the fetal morphology. Prognosis is severe and prenatal diagnosis is difficult.

  14. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

    Science.gov (United States)

    Orhant, Lucie; Anselem, Olivia; Fradin, Mélanie; Becker, Pierre Hadrien; Beugnet, Caroline; Deburgrave, Nathalie; Tafuri, Gilles; Letourneur, Franck; Goffinet, François; Allach El Khattabi, Laïla; Leturcq, France; Bienvenu, Thierry; Tsatsaris, Vassilis; Nectoux, Juliette

    2016-05-01

    Achondroplasia is generally detected by abnormal prenatal ultrasound findings in the third trimester of pregnancy and then confirmed by molecular genetic testing of fetal genomic DNA obtained by aspiration of amniotic fluid. This invasive procedure presents a small but significant risk for both the fetus and mother. Therefore, non-invasive procedures using cell-free fetal DNA in maternal plasma have been developed for the detection of the fetal achondroplasia mutations. To determine whether the fetus carries the de novo mis-sense genetic mutation at nucleotide 1138 in FGFR3 gene involved in >99% of achondroplasia cases, we developed two independent methods: digital-droplet PCR combined with minisequencing, which are very sensitive methods allowing detection of rare alleles. We collected 26 plasmatic samples from women carrying fetus at risk of achondroplasia and diagnosed to date a total of five affected fetuses in maternal blood. The sensitivity and specificity of our test are respectively 100% [95% confidence interval, 56.6-100%] and 100% [95% confidence interval, 84.5-100%]. This novel, original strategy for non-invasive prenatal diagnosis of achondroplasia is suitable for implementation in routine clinical testing and allows considering extending the applications of these technologies in non-invasive prenatal diagnosis of many other monogenic diseases. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  15. The contribution of Prenatal Psychology to our understanding about prenatal dynamics and fetal behaviour

    OpenAIRE

    Gouni, Olga; Sekulic, Slobodan; Topalidou, Anastasia

    2016-01-01

    Research in the prenatal human experience has very clearly shown that whatever mother experiences all her life until conception and even more impact fully during conception and pregnancy passes down to the child she is pregnant with. Modern Biology has shown that environmental information and the perception that governs this environment gets encoded in the cell consciousness. \\ud A simple thought or act can upset or stabilize the whole planet or... fetal existence. Subtle differences in the m...

  16. Determination of the Need for Surgical Intervention in Infants Diagnosed with Fetal Hydronephrosis in China.

    Science.gov (United States)

    Zhang, Lei; Liu, Chao; Li, Yan; Sun, Chao; Li, Xiang

    2016-11-06

    BACKGROUND Hydronephrosis is a common congenital condition. The detection of fetal hydronephrosis by ultrasound presents a treatment dilemma. This study aims to examine postnatal follow-up and treatment for hydronephrosis diagnosed prenatally. MATERIAL AND METHODS This was a retrospective study of 210 infants with hydronephrosis diagnosed at the Qilu Hospital (Shangdong, China) between January 2005 and January 2013. The patient cohort was divided into four groups based on prenatal ultrasound examinations using the Society for Fetal Urology (SFU) classification system. Data on follow-up investigations and treatment methods were extracted from the charts and analyzed. RESULTS Patients with SFU grade 1, 2, and 3 hydronephrosis (n=125, n=74, and n=11, respectively) were followed for two years. In all, 2.4%, 18.9%, and 90.9% of patients with SFU grade 1, 2, and 3 hydronephrosis, respectively, underwent surgery. SFU grade 3 (HR=9.23, 95% CI: 1.43-59.74, p=0.02), APD (HR=2.81, 95% CI: 1.11-7.10, p=0.03), and parenchymal thickness (HR=0.42, 95% CI: 0.24-0.71, p=0.001) were independently associated with the occurrence of surgery. For anterioposterior diameter, using a cut-off point of 1.1, the area under the curve was 0.86, Youden index was 0.556, sensitivity was 70.4%, and specificity was 85.3%. For parenchymal thickness, using a cut-off point of 5, AUC was 0.79, Youden index was 0.478, sensitivity was 74.1%, and specificity was 73.8%. CONCLUSIONS Patients with SFU grade 2 hydronephrosis require long-term follow-up. Surgery and close postsurgical observation may be necessary for patients with SFU grade 3 and 4 hydronephrosis. An initial B-mode ultrasound screening at 7-10 days after birth may help make an optimal diagnosis and treatment selection.

  17. Fetal omphalocele ratios predict outcomes in prenatally diagnosed omphalocele.

    Science.gov (United States)

    Montero, Freddy J; Simpson, Lynn L; Brady, Paula C; Miller, Russell S

    2011-09-01

    The objective of the study was to evaluate whether ratios considering omphalocele diameter relative to fetal biometric measurements perform better than giant omphalocele designation at predicting inability to achieve neonatal primary surgical closure. Cases of fetal omphalocele that underwent evaluation between May 2003 and July 2010 were identified. Inclusion was restricted to live births with plan for postnatal repair. Omphalocele diameter upon antenatal ultrasound was compared with abdominal circumference, femur length, and head circumference, yielding the respective omphalocele (O)/abdominal circumference (AC), O/femur length (FL), and O/head circumference (HC) ratios. The absolute measurements were used to classify giant lesions. Omphalocele ratios and giant omphalocele designations were evaluated as predictors of inability to achieve primary repair. Among 25 included cases, staged or delayed closure occurred in 52%. With an optimal cutoff of 0.21 or greater, O/HC best predicted the primary outcome (sensitivity, 84.6%; specificity, 58.3%; odds ratio, 7.7). The O/HC of 0.21 or greater outperformed giant designations. The O/HC of 0.21 or greater best predicted staged or delayed omphalocele closure. Giant omphalocele designation, regardless of definition, poorly predicted outcome. Copyright © 2011 Mosby, Inc. All rights reserved.

  18. Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2years of screening experience from Denmark

    DEFF Research Database (Denmark)

    Clausen, F. Banch; Steffensen, R.; Christiansen, M.

    2014-01-01

    Objective: Prenatal and postnatal RhD prophylaxis reduces the risk of RhD immunization in pregnancies of RhD-negative women. Based on the result from prenatal screening for the fetal RHD gene, prenatal RhD prophylaxis in Denmark is targeted to RhD-negative women who carry an RhD-positive fetus...... of newborns in 12,668 pregnancies. Early compliance was assessed for 690 pregnancies. Results: The sensitivity for the detection of fetal RHD was 99.9% (95% CI: 99.7-99.9%). Unnecessary recommendation of prenatal RhD prophylaxis was avoided in 97.3% of the women carrying an RhD-negative fetus. Fetuses...... that were seropositive for RhD were not detected in 11 pregnancies (0.087%). The sample uptake percentage was 84.2%, and the compliance for prenatal anti-D administration was 93.2%. Conclusion: The high sensitivity, maintained over 2years, underlines the reliability of routine prenatal fetal RHD screening...

  19. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

    International Nuclear Information System (INIS)

    Miyazaki, Osamu; Horiuchi, Tetsuya; Nishimura, Gen; Sago, Haruhiko; Hayashi, Satoshi; Kosaki, Rika

    2012-01-01

    Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

  20. Prenatal diagnosis of fetal skeletal dysplasia with 3D CT

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu; Horiuchi, Tetsuya [National Center for Child Health and Development, Department of Radiology, Seatagaya-ku, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Children' s Medical Center, Department of Pediatric Imaging, Fuchu-shi, Tokyo (Japan); Sago, Haruhiko; Hayashi, Satoshi [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Seatagaya-ku, Tokyo (Japan); Kosaki, Rika [National Center for Child Health and Development, Department of Strategic Medicine, Division of Clinical Genetics and Molecular Medicine, Seatagaya-ku, Tokyo (Japan)

    2012-07-15

    Clinical use of 3D CT for fetal skeletal malformations is controversial. The purpose of this study was to evaluate the efficacy of fetal 3D CT using three protocols with different radiation doses and through comparing findings between fetal CT and conventional postnatal radiographic skeletal survey. Seventeen fetuses underwent CT for suspected skeletal dysplasia. A relay of three CT protocols with stepwise dose-reduction were used over the study period. The concordance between the CT diagnosis and the final diagnosis was assessed. Ninety-three radiological findings identifiable on radiographs were compared with CT. Fetal CT provided the correct diagnosis in all 17 fetuses, the detectability rate of cardinal findings was 93.5 %. In 59 % of the fetuses an US-based diagnosis was changed prenatally due to CT findings. The estimated fetal radiation dose in the final protocol was 3.4 mSv (50 %) of the initial protocol, and this dose reduction did not result in degraded image quality. The capability of fetal CT to delineate the skeleton was almost the same as that of postnatal skeletal survey. The perinatal management was altered due to these more specific CT findings, which aided in counseling and in the management of the pregnancy. (orig.)

  1. Developmental Programming: Impact of Excess Prenatal Testosterone on Intrauterine Fetal Endocrine Milieu and Growth in Sheep1

    Science.gov (United States)

    Veiga-Lopez, Almudena; Steckler, Teresa L.; Abbott, David H.; Welch, Kathleen B.; MohanKumar, Puliyur S.; Phillips, David J.; Refsal, Kent; Padmanabhan, Vasantha

    2010-01-01

    Prenatal testosterone excess in sheep leads to reproductive and metabolic disruptions that mimic those seen in women with polycystic ovary syndrome. Comparison of prenatal testosterone-treated sheep with prenatal dihydrotestosterone-treated sheep suggests facilitation of defects by androgenic as well as androgen-independent effects of testosterone. We hypothesized that the disruptive impact of prenatal testosterone on adult pathology may partially depend on its conversion to estrogen and consequent changes in maternal and fetal endocrine environments. Pregnant Suffolk sheep were administered either cottonseed oil (control) or testosterone propionate in cottonseed oil (100 mg, i.m. twice weekly), from Day 30 to Day 90 of gestation (term is ∼147 d). Maternal (uterine) and fetal (umbilical) arterial samples were collected at Days 64–66, 87–90, and 139–140 (range; referred to as D65, D90, and D140, respectively) of gestation. Concentrations of gonadal and metabolic hormones, as well as differentiation factors, were measured using liquid chromatography/mass spectrometer, radioimmunoassay, or ELISA. Findings indicate that testosterone treatment produced maternal and fetal testosterone levels comparable to adult males and D65 control male fetuses, respectively. Testosterone treatment increased fetal estradiol and estrone levels during the treatment period in both sexes, supportive of placental aromatization of testosterone. These steroidal changes were followed by a reduction in maternal estradiol levels at term, a reduction in activin A availability, and induction of intrauterine growth restriction in D140 female fetuses. Overall, our findings provide the first direct evidence in support of the potential for both androgenic as well as estrogenic contribution in the development of adult reproductive and metabolic pathology in prenatal testosterone-treated sheep. PMID:20739662

  2. Fetal programming: prenatal testosterone excess leads to fetal growth retardation and postnatal catch-up growth in sheep.

    Science.gov (United States)

    Manikkam, Mohan; Crespi, Erica J; Doop, Douglas D; Herkimer, Carol; Lee, James S; Yu, Sunkyung; Brown, Morton B; Foster, Douglas L; Padmanabhan, Vasantha

    2004-02-01

    Alterations in the maternal endocrine, nutritional, and metabolic environment disrupt the developmental trajectory of the fetus, leading to adult diseases. Female offspring of rats, subhuman primates, and sheep treated prenatally with testosterone (T) develop reproductive/metabolic defects during adult life similar to those that occur after intrauterine growth retardation. In the present study we determined whether prenatal T treatment produces growth-retarded offspring. Cottonseed oil or T propionate (100 mg, im) was administered twice weekly to pregnant sheep between 30-90 d gestation (term = 147 d; cottonseed oil, n = 16; prenatal T, n = 32). Newborn weight and body dimensions were measured the day after birth, and postnatal weight gain was monitored for 4 months in all females and in a subset of males. Consistent with its action, prenatal T treatment produced females and males with greater anogenital distances relative to controls. Prenatal T treatment reduced body weights and heights of newborns from both sexes and chest circumference of females. Prenatally T-treated females, but not males, exhibited catch-up growth during 2-4 months of postnatal life. Plasma IGF-binding protein-1 and IGF-binding protein-2, but not IGF-I, levels of prenatally T-treated females were elevated in the first month of life, a period when the prenatally T-treated females were not exhibiting catch-up growth. This is suggestive of reduced IGF availability and potential contribution to growth retardation. These findings support the concept that fetal growth retardation and postnatal catch-up growth, early markers of future adult diseases, can also be programmed by prenatal exposure to excess sex steroids.

  3. Low Rate of Prenatal Diagnosis among Neonates with Critical Aortic Stenosis: Insight into the Natural History In Utero (Aortic Stenosis)

    Science.gov (United States)

    Freud, Lindsay R.; Moon-Grady, Anita; Escobar-Diaz, Maria C.; Gotteiner, Nina L.; Young, Luciana T.; McElhinney, Doff B.; Tworetzky, Wayne

    2014-01-01

    Objectives To better understand the natural history and spectrum of fetal aortic stenosis (AS), we aimed to 1) determine the prenatal diagnosis rate of neonates with critical AS and a biventricular (BV) outcome; and 2) describe the findings at fetal echocardiography in prenatally diagnosed patients. Methods A multi-center, retrospective study was performed from 2000 to 2013. Neonates with critical AS who were discharged with a BV outcome were included. The prenatal diagnosis rate was compared to that reported for hypoplastic left heart syndrome (HLHS). Fetal echocardiographic findings in prenatally diagnosed patients were reviewed. Results Only 10 of 117 neonates (8.5%) with critical AS and a BV outcome were diagnosed prenatally, a rate significantly lower than that for HLHS in the contemporary era (82%; p<0.0001). Of the 10 patients diagnosed prenatally, all developed LV dysfunction by a median gestational age of 33 weeks (range, 28–35). When present, Doppler abnormalities such as retrograde flow in the aortic arch (n=2), monophasic mitral inflow (n=2), and left to right flow across the foramen ovale (n=8) developed late in gestation (median 33 weeks). Conclusion The prenatal diagnosis rate among neonates with critical AS and a BV outcome is very low, likely due to a relatively normal 4-chamber view in mid-gestation with development of significant obstruction in the 3rd trimester. This natural history contrasts with that of severe mid-gestation AS with evolving HLHS and suggests that the timing in gestation of significant AS has an important impact on subsequent left heart growth in utero. PMID:25251721

  4. Outcomes in Continuing Pregnancies Diagnosed with a Severe Fetal Abnormality and Implication of Antenatal Neonatology Consultation: A 10-Year Retrospective Study.

    Science.gov (United States)

    Hostalery, Laura; Tosello, Barthélémy

    2017-06-01

    To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care. Thirty-nine pregnancies were included, among which 12 couples chose the perinatal palliative care. In total, there were 25 live births (10 later died, with median of survival of 52.5 h [16-943.5]); only five infants received a palliative care plan at birth. The choice to continue a pregnancy diagnosed with severe fetal pathology is on the rise in France. Treatment options point to standardize perinatal palliative care provided by trained perinatal professionals using standardized practices.

  5. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  6. Prenatal diagnosis of arachnoid cyst

    Directory of Open Access Journals (Sweden)

    Korkut Daglar

    2016-12-01

    Full Text Available Arachnoid cysts are rare, usually benign, space-occupying central nervous system lesion. They are the results of an accumulation of cerebrospinal-like fluid between the cerebral meninges and diagnosed prenatally as a unilocular, simple, echolucent area within the fetal head. They may be primary (congenital (maldevelopment of the meninges or secondary (acquired (result of infection trauma, or hemorrhage. The primary ones typically dont communicate with the subarachnoid space whereas acquired forms usually communicate. In recent years, with the development of radiological techniques, the clinical detectability of arachnoid cysts seems to have increased. We report a case of primary arachnoid cyst that were diagnosed prenatally by using ultrasonography and magnetic resonance imaging . [Cukurova Med J 2016; 41(4.000: 792-795

  7. Prenatal iron deficiency causes sex-dependent mitochondrial dysfunction and oxidative stress in fetal rat kidneys and liver.

    Science.gov (United States)

    Woodman, Andrew G; Mah, Richard; Keddie, Danae; Noble, Ronan M N; Panahi, Sareh; Gragasin, Ferrante S; Lemieux, Hélène; Bourque, Stephane L

    2018-06-01

    Prenatal iron deficiency alters fetal developmental trajectories, which results in persistent changes in organ function. Here, we studied the effects of prenatal iron deficiency on fetal kidney and liver mitochondrial function. Pregnant Sprague-Dawley rats were fed partially or fully iron-restricted diets to induce a state of moderate or severe iron deficiency alongside iron-replete control rats. We assessed mitochondrial function via high-resolution respirometry and reactive oxygen species generation via fluorescence microscopy on gestational d 21. Hemoglobin levels were reduced in dams in the moderate (-31%) and severe groups (-54%) compared with controls, which was accompanied by 55% reductions in fetal hemoglobin levels in both moderate and severe groups versus controls. Male iron-deficient kidneys exhibited globally reduced mitochondrial content and respiration, as well as increased cytosolic superoxide and decreased NO. Female iron-deficient kidneys exhibited complex II down-regulation and increased mitochondrial oxidative stress. Male iron-deficient livers exhibited reduced complex IV respiration and increased cytosolic superoxide, whereas female liver tissues exhibited no alteration in oxidant levels or mitochondrial function. These findings indicate that prenatal iron deficiency causes changes in mitochondrial content and function as well as oxidant status in a sex- and organ-dependent manner, which may be an important mechanism that underlies the programming of cardiovascular disease.-Woodman, A. G., Mah, R., Keddie, D., Noble, R. M. N., Panahi, S., Gragasin, F. S., Lemieux, H., Bourque, S. L. Prenatal iron deficiency causes sex-dependent mitochondrial dysfunction and oxidative stress in fetal rat kidneys and liver.

  8. Prenatal diagnosis and management of fetal goiter caused by maternal Grave's disease.

    Science.gov (United States)

    Hadi, H A; Strickland, D

    1995-07-01

    We present a case of maternal Grave's disease associated with fetal goitrous hyperthyroidism. Fetal goiter was diagnosed by ultrasound and diagnosis of fetal hyperthyroidism was established by umbilical blood sampling. Fetus was successfully treated by increasing maternal propylthiouracil dosage. Fetal thyroid status was normal at birth. Role of sonography and umbilical blood sampling in management of fetal goiter complicated with maternal Grave's disease is discussed.

  9. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.

    Science.gov (United States)

    Gilboa, Yinon; Perlman, Sharon; Pode-Shakked, Naomi; Pode-Shakked, Ben; Shrim, Alon; Azaria-Lahav, Einat; Dekel, Benjamin; Yonath, Hagith; Berkenstadt, Michal; Achiron, Reuven

    2016-11-01

    The linkage between 17q12 microdeletions, renal anomalies, and higher risk for neurodevelopmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized fetal hyperechogenic kidneys leading to the diagnosis of 17q12 deletion syndrome and autism spectrum disorder. Over a period of 9 years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and were followed up prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently, five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist. Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long-term follow-up, all of the four children showed symptoms consistent with neurodevelopmental disorders. The two fetuses with no deletion have a normal follow-up with regression of the renal hyperechogenicity. We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 microdeletion, and autism spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  10. FORECASTING OF SURVIVAL OF CHILDREN WITH THE PRENATALLY DIAGNOSED PATHOLOGY OF THE CARDIOVASCULAR SYSTEM

    Directory of Open Access Journals (Sweden)

    Анна Валериевна Дубовая

    2018-05-01

    Full Text Available The development of effective methods for the analysis and prognosis of the survival of newborns with prenatally diagnosed congenital malformations of the cardiovascular system are the urgent task of modern medicine. Objective – a neural network model for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was developed. Materials and methods. To create the artificial neural networks, the method of constructing multifactor mathematical prediction models in the software package Statistica 6.0 was used. The significance level of the factors influencing the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system was determined using Wald statistics. When checking statistical hypotheses, the critical level of significance was assumed to be 0,05. Results. A neural network model for the determination of the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system, which has a high prognostic ability of 0,88, sensitivity of the model was 77,6 %, specificity 86,4 %. The value of prognostic survival probability is in the range from 0 to 100 %. With an indicator value of more than 80 %, the probability of survival of a child with prenatally diagnosed congenital malformations of the cardiovascular system is estimated as high, ranging from 20 % to 80 % – as an average and less than 20 % – as low. Conclusion. In the algorithm for predicting the survival of children with prenatally diagnosed congenital malformations of the cardiovascular system it is necessary to include a combination with other pathology of cardiovascular system, with other organs and systems, with chromosomal abnormalities, with microdeletion and monogenic syndromes.

  11. Fetal Echocardiography and Indications

    Directory of Open Access Journals (Sweden)

    Melih Atahan Güven

    2008-09-01

    Full Text Available Congenital heart diseases are encountered in 0.8% of live births and are among the most frequently diagnosed malformations. At least half of these anomalies end up with death or require surgical interventions and are responsible for 30% of the perinatal mortality. Fetal echocardiography is the sum of knowledge, skill and orientation rather than knowing the embryologic details of the fetal heart. The purpose of fetal echocardiography is to document the presence of normal fetal cardiac anatomy and rhythm in high risk group and to define the anomaly and arrhythmia if present. A certain sequence should be followed during the evaluation of fetal heart. Sequential segmental analysis (SSA and basic definition terminology made it possible to determine a lot of complex cardiac anomalies during prenatal period. By the end of 1970’s, Shinebourne started using sequential segmental analysis for fetal cardiac evaluation and today, prenatal diagnosis of congenital heart disease is possible without any confusion. In this manner, whole fetal heart can be evaluated as the relation of three segments (atria, ventricles and the great arteries with each other, irrelevant of complexity of a possible cardiac anomaly. Presence of increased nuchal thickness during early gestation and abnormal four-chamber-view during ultrasonography by the obstetrician presents a clear indication for fetal echocardiography,however, one should keep in mind that 80-90% of the babies born with a congenital heart disease do not have a familial or maternal risk factor. In addition, it should be remembered that expectant mothers with diabetes mellitus pose an indication for fetal echocardiography.

  12. Fetal Alcohol Syndrome in Adolescents and Adults.

    Science.gov (United States)

    Bert, Cynthia R. Greene; Bert, Minnie

    Persons with fetal alcohol syndrome (FAS) may be diagnosed at birth based on specific symptoms and anomalies. These are history of prenatal alcohol exposure, mental retardation, central nervous system dysfunctions, growth deficiency, particular physical anomalies, and speech and language anomalies. With aging, cranial and skeletal anomalies become…

  13. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

    NARCIS (Netherlands)

    Chitty, L. S.; Griffin, D. R.; Meaney, C.; Barrett, A.; Khalil, A.; Pajkrt, E.; Cole, T. J.

    2011-01-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed

  14. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

    Science.gov (United States)

    Hall, Alison; Bostanci, A; Wright, C F

    2010-01-01

    Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service. Copyright 2010 S. Karger AG, Basel.

  15. The role of magnetic resonance imaging in prenatal diagnosis of fetal anomalies.

    Science.gov (United States)

    Bekker, M N; van Vugt, J M

    2001-06-01

    Magnetic resonance imaging (MR) has become a useful adjuvant in evaluating fetal structural anomalies when ultrasound (US) is equivocal. It has a significant promise in confirming a US suspected abnormality and providing new information that was previously not available. The first studies on prenatal MR were hindered by fetal motion and long acquisition times. This degraded imaging and, therefore, maternal or fetal sedation was needed. Since fast and ultrafast MR with scan times of <1 s have become available, the amount of motion artifacts is decreased and sedation is no longer needed.MR has proved to be especially beneficial in detecting CNS anomalies. Agenesis of the corpus callosum, migration abnormalities and abnormalities of the posterior fossa are better seen on MR. Masses in the fetal neck and thorax can be identified on MR, as some abdominal anomalies. However, the fetal skeletal is difficult to visualize with MR. In the future, it is most likely that real time MR will become clinically available which would improve MR imaging even more.

  16. A Rare Case Report of Bilateral Complex Macrocystic Adrenal Hemorrhage Mimicking Fetal Neuroblastoma

    OpenAIRE

    Sindhwani, Geetika; Patel, Viral; Jain, Abhinav

    2018-01-01

    Fetal and neonatal adrenal glands are large vascular organs, which make them vulnerable to frequent bleeding. Although neonatal adrenal hemorrhage is commonly reported, it is rarely diagnosed on antenatal sonography. We present a rare case of prenatally diagnosed bilateral adrenal hemorrhage, which mimicked antenatal neuroblastoma.

  17. Fetal cardiac axis in tetralogy of Fallot: associations with prenatal findings, genetic anomalies and postnatal outcome.

    Science.gov (United States)

    Zhao, Y; Edington, S; Fleenor, J; Sinkovskaya, E; Porche, L; Abuhamad, A

    2017-07-01

    To compare prenatal findings, associated genetic anomalies and postnatal outcome in fetuses with tetralogy of Fallot (TOF) with normal cardiac axis (CAx) and those with abnormal CAx. In this retrospective cohort study, 85 cases diagnosed with TOF by prenatal ultrasound at our clinic between 2005 and 2015 were reviewed. Follow-up ultrasound and postnatal outcome were available for 68 cases. One case complicated with absent pulmonary valve syndrome and a further seven cases diagnosed postnatally with anomalies other than TOF were excluded from the study. The remaining 60 cases of postnatally confirmed TOF were divided according to CAx into two groups: those with normal CAx (n = 33) and those with abnormal CAx (n = 27). CAx was defined as the angle between the interventricular septum and midline of the fetal thorax at the level of the four-chamber view. CAx > 65° or < 25° was considered abnormal. Prenatal sonographic findings, associated genetic anomalies and postnatal outcome were compared between the two groups. Fetuses with TOF and abnormal CAx were more likely to have pulmonary atresia (40.7% vs 15.2%; P = 0.026) and right-sided aortic arch (48.1% vs 21.2%; P = 0.028) than those with normal CAx. Postnatal death occurred in 30.4% of infants with abnormal CAx vs 6.5% with normal CAx (P = 0.028). Incidence of tested genetic anomalies was similar between the two groups. In fetuses with TOF, abnormal CAx is associated with the presence of pulmonary atresia, right-sided aortic arch and a higher risk of postnatal death. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

  18. Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

    2015-05-01

    Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

  19. Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

    International Nuclear Information System (INIS)

    Dong, Su-Zhen; Zhu, Ming

    2015-01-01

    Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

  20. The effects of prenatal cannabis exposure on fetal development and pregnancy outcomes: a protocol.

    Science.gov (United States)

    Gunn, Jayleen K L; Rosales, Cecilia B; Center, Katherine E; Nuñez, Annabelle V; Gibson, Steven J; Ehiri, John E

    2015-03-13

    The effects of exposure to marijuana in utero on fetal development are not clear. Given that the recent legislation on cannabis in the US is likely to result in increased use, there is a need to assess the effects of prenatal cannabis exposure on fetal development and pregnancy outcomes. The objective of this review is to assess the effects of prenatal exposure to cannabis on pregnancy outcomes (including maternal and child outcomes). Major databases will be searched from inception to the latest issue, with the aim of identifying studies that reported the effects of prenatal exposure to cannabis on fetal development and pregnancy outcomes. Two investigators will independently review all titles and abstracts to identify potential articles. Discrepancies will be resolved by repeated review, discussion and consensus. Study quality assessment will be undertaken, using standard protocols. To qualify for inclusion, studies must report at least one maternal or neonatal outcome post partum. Cross-sectional, case-control, cohort and randomised controlled trials published in English will be included. In order to rule out the effects of other drugs that may affect fetal development and pregnancy outcomes, studies will only be included if they report outcomes of prenatal exposure to cannabis while excluding other illicit substances. Data from eligible studies will be extracted, and data analysis will include a systematic review and critical appraisal of evidence, and meta-analysis if data permit. Meta-analysis will be conducted if three or more studies report comparable statistics on the same outcome. The review which will result from this protocol has not already been conducted. Preparation of the review will follow the procedures stated in this protocol, and will adhere to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Ethical approval of data will not be required since the review will use data that are already available in the

  1. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

    Directory of Open Access Journals (Sweden)

    Gekas J

    2016-02-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,7 1Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 2Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada; 5Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada; 6Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada; 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada Abstract: Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women. Keywords: prenatal diagnosis, Down syndrome, non-invasive prenatal testing, cell-free fetal DNA, informed consent, reproductive autonomy

  2. Fetal rat metabonome alteration by prenatal caffeine ingestion probably due to the increased circulatory glucocorticoid level and altered peripheral glucose and lipid metabolic pathways

    International Nuclear Information System (INIS)

    Liu, Yansong; Xu, Dan; Feng, Jianghua; Kou, Hao; Liang, Gai; Yu, Hong; He, Xiaohua; Zhang, Baifang; Chen, Liaobin; Magdalou, Jacques; Wang, Hui

    2012-01-01

    The aims of this study were to clarify the metabonome alteration in fetal rats after prenatal caffeine ingestion and to explore the underlying mechanism pertaining to the increased fetal circulatory glucocorticoid (GC). Pregnant Wistar rats were daily intragastrically administered with different doses of caffeine (0, 20, 60 and 180 mg/kg) from gestational days (GD) 11 to 20. Metabonome of fetal plasma and amniotic fluid on GD20 were analyzed by 1 H nuclear magnetic resonance-based metabonomics. Gene and protein expressions involved in the GC metabolism, glucose and lipid metabolic pathways in fetal liver and gastrocnemius were measured by real-time RT-PCR and immunohistochemistry. Fetal plasma metabonome were significantly altered by caffeine, which presents as the elevated α- and β‐glucose, reduced multiple lipid contents, varied apolipoprotein contents and increased levels of a number of amino acids. The metabonome of amniotic fluids showed a similar change as that in fetal plasma. Furthermore, the expressions of 11β-hydroxysteroid dehydrogenase 2 (11β-HSD-2) were decreased, while the level of blood GC and the expressions of 11β-HSD-1 and glucocorticoid receptor (GR) were increased in fetal liver and gastrocnemius. Meanwhile, the expressions of insulin-like growth factor 1 (IGF-1), IGF-1 receptor and insulin receptor were decreased, while the expressions of adiponectin receptor 2, leptin receptors and AMP-activated protein kinase α2 were increased after caffeine treatment. Prenatal caffeine ingestion characteristically change the fetal metabonome, which is probably attributed to the alterations of glucose and lipid metabolic pathways induced by increased circulatory GC, activated GC metabolism and enhanced GR expression in peripheral metabolic tissues. -- Highlights: ► Prenatal caffeine ingestion altered the metabonome of IUGR fetal rats. ► Caffeine altered the glucose and lipid metabolic pathways of IUGR fetal rats. ► Prenatal caffeine ingestion

  3. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  4. Causes and outcome of prenatally diagnosed hydronephrosis

    International Nuclear Information System (INIS)

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-01-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or nonobstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> 15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydronephrosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed complications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydronephrosis should be assessed postnatally for specific diagnosis and treatment. (author)

  5. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

  6. Prenatal diagnosis of the acute meconium peritonitis secondary to ileum volvulus perforation: a case report.

    Science.gov (United States)

    Keskin, Uğur; Karasahin, Kazım Emre; Ozturk, Mustafa; Atabek, Cüneyt; Demirbağ, Suzi; Ergün, Ali

    2015-02-01

    This is an unusual case in comparison to other sonographically described prenatal cases due to very early diagnosis and surgical intervention following prompt delivery. A 40-year-old pregnant, ultrasonography showed presence of cystic structure in the fetal abdomen that was consistent with intestinal dilatation. At 32 weeks' of gestation, repeat ultrasound showed collapse of the bowel dilatation along with the presence of hyperechogenic fluid in the fetal abdominal cavity. Cesarean section was performed. The clinical utility of this report is the recognition that meconium peritonitis (MP) may be diagnosed in the acute phase with typical ultrasound features, and should be considered in the differential diagnoses of cases presented with reduced fetal movements. Although it appears that morbidity and mortality in MP cases depend upon gestational age, this case report may help to manage similar cases for defining the appropriate delivery time and treatment modality after prenatal identification of the problem.

  7. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

    Science.gov (United States)

    Audibert, Francois; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nanette; Wilson, R Douglas; Armour, Christine; Chitayat, David; Kim, Raymond

    2017-09-01

    To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. All pregnant women receiving counselling and providing informed consent for prenatal screening. Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to March 2016 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to May 2016. Searches were updated on a regular basis and incorporated in the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies. Evidence will be reviewed 5 years after publication to determine whether all or part of the guideline should be updated. However, if important new evidence is published prior to the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations. Copyright © 2017 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  8. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  9. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  10. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

    2012-01-01

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  11. Fetal MRI in experimental tracheal occlusion

    Energy Technology Data Exchange (ETDEWEB)

    Wedegaertner, Ulrike [Department of Diagnostic and Interventional Radiology, Universitaetsklinikum Hamburg-Eppendorf, Martinistrasse 52, 20251 Hamburg (Germany)]. E-mail: wedegaer@uke.uni-hamburg.de; Schroeder, Hobe J. [Experimental Gynecology, Department of Obstetrics and Prenatal Medicine, Universitaetsklinikum Hamburg-Eppendorf, Hamburg (Germany); Adam, Gerhard [Department of Diagnostic and Interventional Radiology, Universitaetsklinikum Hamburg-Eppendorf, Hamburg (Germany)

    2006-02-15

    Congenital diaphragmatic hernia (CDH) is associated with a high mortality, which is mainly due to pulmonary hypoplasia and secondary pulmonary hypertension. In severely affected fetuses, tracheal occlusion (TO) is performed prenatally to reverse pulmonary hypoplasia, because TO leads to accelerated lung growth. Prenatal imaging is important to identify fetuses with pulmonary hypoplasia, to diagnose high-risk fetuses who would benefit from TO, and to monitor the effect of TO after surgery. In fetal imaging, ultrasound (US) is the method of choice, because it is widely available, less expensive, and less time-consuming to perform than magnetic resonance imaging (MRI). However, there are some limitations for US in the evaluation of CDH fetuses. In those cases, MRI is helpful because of a better tissue contrast between liver and lung, which enables evaluation of liver herniation for the diagnosis of a high-risk fetus. MRI provides the ability to determine absolute lung volumes to detect lung hypoplasia. In fetal sheep with normal and hyperplastic lungs after TO, lung growth was assessed on the basis of cross-sectional US measurements, after initial lung volume determination by MRI. To monitor fetal lung growth after prenatal TO, both MRI and US seem to be useful methods.

  12. Prenatal Diagnosis of Fetal Interrupted Aortic Arch Type A by Two-Dimensional Echocardiography and Four-Dimensional Echocardiography with B-Flow Imaging and Spatiotemporal Image Correlation.

    Science.gov (United States)

    Zhang, Dongyu; Zhang, Ying; Ren, Weidong; Sun, Feifei; Guo, Yajun; Sun, Wei; Wang, Yu; Huang, Liping; Cai, Ailu

    2016-01-01

    Fetal interrupted aortic arch (IAA) is a rare cardiac anomaly and its prenatal diagnosis is challenging. The purpose of our report is to evaluate the use of two-dimensional echocardiography (2DE) and 4D echocardiography with B-flow imaging and spatiotemporal image correlation (4D BF-STIC) in detecting IAA type A (IAA-A). Twenty-three cases of confirmed IAA-A identified by fetal echocardiography were involved in the study. The fetal echocardiography image data were reviewed to analyze the ratio of right ventricle to left ventricle (RV/LV) diameter, the ratio of main pulmonary artery to ascending aorta (MPA/AAO) diameter, and the correlation of RV/LV diameter ratio and size of ventricular septal defect (VSD). 4D BF-STIC was performed in 21 fetuses using the sagittal view (4D BF-STIC-sagittal) and the four-chamber view (4D BF-STIC-4CV) as initial planes of view. An additional 183 normal fetuses were also included in our study. RV/LV and MPA/AAO ratios were calculated and compared with that of IAA-A fetuses. Fetal 2DE, 4D BF-STIC-sagittal, and 4D BF-STIC-4CV were used to visualize the aortic arch and its associated neck vessels. Six subgroups were evaluated according to gestational age. Fetal 2DE, 4D BF-STIC-sagittal, and 4D BF-STIC-4CV made the correct prenatal diagnosis of IAA-A in 19/23 (82.6%), 14/21 (66.7%), and 19/21 (90.5%) of patients, respectively. A significantly enlarged MPA combined with symmetric ventricles was found in the IAA-A fetuses, while the size of the VSD was negatively correlated with RV/LV ratio. 4D BF-STIC-sagittal and 4D BF-STIC-4CV were better than traditional 2D ultrasound in detecting the aortic arch and neck vessels between 17 and 28 gestational weeks and 29 to 40 gestational weeks in normal fetuses. It is demonstrated that IAA-A could be diagnosed by traditional fetal echocardiography, while 4D technique could better display the anatomic structure and the spatial relationships of the great arteries. Use of volume reconstruction may

  13. Truncus arteriosus communis in a midtrimester fetus: Comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy

    International Nuclear Information System (INIS)

    Muehler, Matthias R.; Lembcke, Alexander; Fischer, Thomas; Kivelitz, Dietmar; Rake, Anett; Chaoui, Rabih; Heling, Kay-Sven; Schwabe, Michael; Planke, Christiane

    2004-01-01

    Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed. (orig.)

  14. Pre-analytical conditions in non-invasive prenatal testing of cell-free fetal RHD.

    Directory of Open Access Journals (Sweden)

    Frederik Banch Clausen

    Full Text Available Non-invasive prenatal testing of cell-free fetal DNA (cffDNA in maternal plasma can predict the fetal RhD type in D negative pregnant women. In Denmark, routine antenatal screening for the fetal RhD gene (RHD directs the administration of antenatal anti-D prophylaxis only to women who carry an RhD positive fetus. Prophylaxis reduces the risk of immunization that may lead to hemolytic disease of the fetus and the newborn. The reliability of predicting the fetal RhD type depends on pre-analytical factors and assay sensitivity. We evaluated the testing setup in the Capital Region of Denmark, based on data from routine antenatal RHD screening.Blood samples were drawn at gestational age 25 weeks. DNA extracted from 1 mL of plasma was analyzed for fetal RHD using a duplex method for exon 7/10. We investigated the effect of blood sample transportation time (n = 110 and ambient outdoor temperatures (n = 1539 on the levels of cffDNA and total DNA. We compared two different quantification methods, the delta Ct method and a universal standard curve. PCR pipetting was compared on two systems (n = 104.The cffDNA level was unaffected by blood sample transportation for up to 9 days and by ambient outdoor temperatures ranging from -10 °C to 28 °C during transport. The universal standard curve was applicable for cffDNA quantification. Identical levels of cffDNA were observed using the two automated PCR pipetting systems. We detected a mean of 100 fetal DNA copies/mL at a median gestational age of 25 weeks (range 10-39, n = 1317.The setup for real-time PCR-based, non-invasive prenatal testing of cffDNA in the Capital Region of Denmark is very robust. Our findings regarding the transportation of blood samples demonstrate the high stability of cffDNA. The applicability of a universal standard curve facilitates easy cffDNA quantification.

  15. Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms.

    Science.gov (United States)

    Mone, Fionnuala; Walsh, Colin; Mulcahy, Cecelia; McMahon, Colin J; Farrell, Sinead; MacTiernan, Aoife; Segurado, Ricardo; Mahony, Rhona; Higgins, Shane; Carroll, Stephen; McParland, Peter; McAuliffe, Fionnuala M

    2015-06-01

    The aim of this study is to document the detection of fetal congenital heart defect (CHD) in relation to the following: (1) indication for referral, (2) chromosomal and (3) extracardiac abnormalities. All fetal echocardiograms performed in our institution from 2007 to 2011 were reviewed retrospectively. Indication for referral, cardiac diagnosis based on the World Health Organization International Classification of Diseases tenth revision criteria and the presence of chromosomal and extracardiac defects were recorded. Of 1262 echocardiograms, 287 (22.7%) had CHD. Abnormal anatomy scan in pregnancies originally considered to be at low risk of CHD was the best indicator for detecting CHD (91.2% of positive cardiac diagnoses), compared with other indications of family history (5.6%) or maternal medical disorder (3.1%). Congenital anomalies of the cardiac septa comprised the largest category (n = 89), within which atrioventricular septal defects were the most common anomaly (n = 36). Invasive prenatal testing was performed for 126 of 287 cases, of which 44% (n = 55) had a chromosomal abnormality. Of 232 fetuses without chromosomal abnormalities, 31% had an extracardiac defect (n = 76). Most CHDs occur in pregnancies regarded to be at low risk, highlighting the importance of a routine midtrimester fetal anatomy scan. Frequent association of fetal CHD and chromosomal and extracardiac pathology emphasises the importance of thorough evaluation of any fetus with CHD. © 2015 John Wiley & Sons, Ltd.

  16. Prenatal Nitrate Exposure and Childhood Asthma. Influence of Maternal Prenatal Stress and Fetal Sex.

    Science.gov (United States)

    Bose, Sonali; Chiu, Yueh-Hsiu Mathilda; Hsu, Hsiao-Hsien Leon; Di, Qian; Rosa, Maria José; Lee, Alison; Kloog, Itai; Wilson, Ander; Schwartz, Joel; Wright, Robert O; Cohen, Sheldon; Coull, Brent A; Wright, Rosalind J

    2017-12-01

    Impact of ambient pollution upon children's asthma may differ by sex, and exposure dose and timing. Psychosocial stress can also modify pollutant effects. These associations have not been examined for in utero ambient nitrate exposure. We implemented Bayesian-distributed lag interaction models to identify sensitive prenatal windows for the influence of nitrate (NO 3 - ) on child asthma, accounting for effect modification by sex and stress. Analyses included 752 mother-child dyads. Daily ambient NO 3 - exposure during pregnancy was derived using a hybrid chemical transport (Geos-Chem)/land-use regression model and natural log transformed. Prenatal maternal stress was indexed by a negative life events score (high [>2] vs. low [≤2]). The outcome was clinician-diagnosed asthma by age 6 years. Most mothers were Hispanic (54%) or black (29%), had a high school education or less (66%), never smoked (80%), and reported low prenatal stress (58%); 15% of children developed asthma. BDILMs adjusted for maternal age, race, education, prepregnancy obesity, atopy, and smoking status identified two sensitive windows (7-19 and 33-40 wk gestation), during which increased NO 3 - was associated with greater odds of asthma, specifically among boys born to mothers reporting high prenatal stress. Cumulative effects of NO 3 - across pregnancy were also significant in this subgroup (odds ratio = 2.64, 95% confidence interval = 1.27-5.39; per interquartile range increase in ln NO 3 - ). Prenatal NO 3 - exposure during distinct sensitive windows was associated with incident asthma in boys concurrently exposed to high prenatal stress.

  17. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis DNA fetal libre en el plasma materno y diagnóstico prenatal no invasivo DNA livre fetal em plasma materno e diagnóstico pré-natal não invasivo

    Directory of Open Access Journals (Sweden)

    Ester Silveira Ramos

    2006-12-01

    Full Text Available The noninvasive nature of the detection of fetal DNA in the maternal circulation represents the greatest advantage over the conventional methods of prenatal diagnosis. The applications of this methodology involve the detection of the fetal sex, and diagnosis, intra-uterine treatment, and evaluation of the prognosis of many diseases. Fetal cells detected in the maternal circulation have also been shown to be implicated in autoimmune diseases and to represent a potential source of stem cells. On the other hand, with the introduction of a technology that detects the fetal sex as early as at 6-8 weeks of gestation, there is the possibility of early abortion based on sex selection for social purposes. This implies an ethical discussion about the question. The introduction of new noninvasive techniques of prenatal diagnosis and the knowledge of the Nursing Team regarding new methodologies can be of great benefit to the mother and her children, and can help the Genetic Counseling of the families.La naturaleza no invasiva de la investigación del DNA fetal en la circulación materna representa una ventaja importante con relación a los métodos convencionales de diagnóstico prenatal. El uso de esta metodología implica la determinación del sexo fetal y el diagnóstico, el tratamiento intra-útero y la evaluación del pronóstico en muchas enfermedades. Las células fetales detectadas en la circulación maternal también pueden ser implicadas en enfermedades autoinmunes y representar una fuente potencial de células madre. Por otra parte, con la introducción de una tecnología que detecte el sexo fetal entre 6-8 semanas de gestación, existe la posibilidad de aborto precoz basada en la selección del sexo para los propósitos sociales. Esto implica una discusión ética previa sobre este problema. La introducción de nuevas técnicas no invasivas de diagnóstico prenatal y el conocimiento del Equipo de Enfermería con respecto a las nuevas metodolog

  18. In an Ovine Model of Polycystic Ovary Syndrome (PCOS) Prenatal Androgens Suppress Female Fetal Renal Gluconeogenesis

    Science.gov (United States)

    Connolly, Fiona; Rae, Michael T.; Späth, Katharina; Boswell, Lyndsey; McNeilly, Alan S.; Duncan, W. Colin

    2015-01-01

    Increased maternal androgen exposure during pregnancy programmes a polycystic ovary syndrome (PCOS)-like condition, with metabolic dysfunction, in adult female offspring. Other in utero exposures associated with the development of insulin resistance, such as intrauterine growth restriction and exposure to prenatal glucocorticoids, are associated with altered fetal gluconeogenesis. We therefore aimed to assess the effect of maternal androgenisation on the expression of PEPCK and G6PC in the ovine fetus. Pregnant Scottish Greyface sheep were treated with twice weekly testosterone propionate (TP; 100mg) or vehicle control from day 62 to day102 of gestation. At day 90 and day 112 fetal plasma and liver and kidney tissue was collected for analysis. PEPCK and G6PC expression were analysed by quantitative RT-PCR, immunohistochemistry and western blotting. PEPCK and G6PC were localised to fetal hepatocytes but maternal androgens had no effect on female or male fetuses. PEPCK and G6PC were also localised to the renal tubules and renal PEPCK (P<0.01) and G6PC (P = 0.057) were lower in females after prenatal androgenisation with no change in male fetuses. These tissue and sex specific observations could not be explained by alterations in fetal insulin or cortisol. The sexual dimorphism may be related to the increase in circulating estrogen (P<0.01) and testosterone (P<0.001) in females but not males. The tissue specific effects may be related to the increased expression of ESR1 (P<0.01) and AR (P<0.05) in the kidney when compared to the fetal liver. After discontinuation of maternal androgenisation female fetal kidney PEPCK expression normalised. These data further highlight the fetal and sexual dimorphic effects of maternal androgenisation, an antecedent to adult disease and the plasticity of fetal development. PMID:26148093

  19. Newborn with Prenatally Diagnosed Choroidal Fissure Cyst and Panhypopituitarism and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ritu Chitkara

    2011-12-01

    Full Text Available Little has been reported on fetal diagnosis of choroidal fissure cysts and prediction of the clinical complications that can result. We describe the case of a near-term male infant with prenatally diagnosed choroidal fissure cyst and bilateral clubfeet. His prolonged course in the neonatal intensive care nursery was marked by severe panhypopituitarism, late-onset diabetes insipidus, placement of a cystoperitoneal shunt, and episodes of sepsis. Postnatal genetic evaluation also revealed an interstitial deletion involving most of band 10q26.12 and the proximal half of band 10q26.13. The patient had multiple readmissions for medical and surgical indications and died at 6 months of age. This case represents the severe end of the spectrum of medical complications for children with choroidal fissure cysts. It highlights not only the importance of comprehensive evaluation and multidisciplinary management and counseling in such cases, but also the need for heightened vigilance in these patients.

  20. Voiding cystourethrogram in the diagnosis of vesicoureteric reflux in children with antenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    R B Nerli

    2008-12-01

    Full Text Available R B Nerli, S S Amarkhed, I R RavishDepartment of Urology, Kles Kidney Foundation, Nehru Nagar, Belgaum, IndiaAbstract: Prenatal ultrasonography has revolutionized the detection and management of many urological abnormalities. Vesicoureteric reflux (VUR which develops in 10% to 15% of cases of prenatal hydronephrosis, is difficult to predict prenatally. While all children with prenatal hydronephrosis should undergo ultrasonography within the first few weeks of life, there seems to be controversy regarding the role of voiding cystourethrogram (VCUG in the assessment of these children.Materials and methods: Neonates with antenatally diagnosed unilateral hydronephrosis were prospectively assessed with sonography on day 3–7, and VCUG and isotope imaging at three months.Results: Seven (16.6% children of the 42 children with Society of Fetal Urology grade 0/I/II hydronephrosis on postnatal sonography had evidence of VUR on VCUG. 44.4% of the refluxing ureters identified involved high grade disease and two (28.5% children required reimplantation.Conclusions: Children with fetal reflux may be diagnosed prior to urinary tract infection and in whom further renal injury may be prevented. VCUG when performed properly is safe and presents with little risk of infectious and noninfectious complications. VCUG should be done in children in whom hydronephrosis is detected prenatally to restrict the use of VCUG to diagnose VUR. Two patients had infection.Keywords: antenatal hydronephrosis, voiding cystourethrogram, vesicoureteric reflux

  1. Imprinted NanoVelcro Microchips for Isolation and Characterization of Circulating Fetal Trophoblasts: Toward Noninvasive Prenatal Diagnostics

    OpenAIRE

    Hou, Shuang; Chen, Jie-Fu; Song, Min; Zhu, Yazhen; Jan, Yu Jen; Chen, Szu Hao; Weng, Tzu-Hua; Ling, Dean-An; Chen, Shang-Fu; Ro, Tracy; Liang, An-Jou; Lee, Tom; Jin, Helen; Li, Man; Liu, Lian

    2017-01-01

    Circulating fetal nucleated cells (CFNCs) in maternal blood offer an ideal source of fetal genomic DNA for noninvasive prenatal diagnostics (NIPD). We developed a class of nanoVelcro microchips to effectively enrich a subcategory of CFNCs, i.e., circulating trophoblasts (cTBs) from maternal blood, which can then be isolated with single-cell resolution by a laser capture microdissection (LCM) technique for downstream genetic testing. We first established a nanoimprinting fabrication process to...

  2. Fetal rat metabonome alteration by prenatal caffeine ingestion probably due to the increased circulatory glucocorticoid level and altered peripheral glucose and lipid metabolic pathways

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Yansong [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan University, Wuhan, 430071 (China); Xu, Dan [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan University, Wuhan, 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan, 430071 (China); Feng, Jianghua, E-mail: jianghua.feng@xmu.edu.cn [Wuhan Institute of Physics and Mathematics, Chinese Academy of Sciences, Wuhan, 430071 (China); Department of Electronic Science, Fujian Provincial Key Laboratory of Plasma and Magnetic Resonance, Xiamen University, Xiamen, 361005 (China); Kou, Hao; Liang, Gai [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan University, Wuhan, 430071 (China); Yu, Hong; He, Xiaohua; Zhang, Baifang; Chen, Liaobin [Research Center of Food and Drug Evaluation, Wuhan University, Wuhan, 430071 (China); Magdalou, Jacques [UMR 7561 CNRS-Nancy Université, Faculté de Médicine, Vandoeuvre-lès-Nancy (France); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan University, Wuhan, 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan, 430071 (China)

    2012-07-15

    The aims of this study were to clarify the metabonome alteration in fetal rats after prenatal caffeine ingestion and to explore the underlying mechanism pertaining to the increased fetal circulatory glucocorticoid (GC). Pregnant Wistar rats were daily intragastrically administered with different doses of caffeine (0, 20, 60 and 180 mg/kg) from gestational days (GD) 11 to 20. Metabonome of fetal plasma and amniotic fluid on GD20 were analyzed by {sup 1}H nuclear magnetic resonance-based metabonomics. Gene and protein expressions involved in the GC metabolism, glucose and lipid metabolic pathways in fetal liver and gastrocnemius were measured by real-time RT-PCR and immunohistochemistry. Fetal plasma metabonome were significantly altered by caffeine, which presents as the elevated α- and β‐glucose, reduced multiple lipid contents, varied apolipoprotein contents and increased levels of a number of amino acids. The metabonome of amniotic fluids showed a similar change as that in fetal plasma. Furthermore, the expressions of 11β-hydroxysteroid dehydrogenase 2 (11β-HSD-2) were decreased, while the level of blood GC and the expressions of 11β-HSD-1 and glucocorticoid receptor (GR) were increased in fetal liver and gastrocnemius. Meanwhile, the expressions of insulin-like growth factor 1 (IGF-1), IGF-1 receptor and insulin receptor were decreased, while the expressions of adiponectin receptor 2, leptin receptors and AMP-activated protein kinase α2 were increased after caffeine treatment. Prenatal caffeine ingestion characteristically change the fetal metabonome, which is probably attributed to the alterations of glucose and lipid metabolic pathways induced by increased circulatory GC, activated GC metabolism and enhanced GR expression in peripheral metabolic tissues. -- Highlights: ► Prenatal caffeine ingestion altered the metabonome of IUGR fetal rats. ► Caffeine altered the glucose and lipid metabolic pathways of IUGR fetal rats. ► Prenatal caffeine

  3. Diagnóstico prenatal no invasivo: Ácidos nucleicos de origen fetal en sangre materna

    Directory of Open Access Journals (Sweden)

    Carla Sesarini

    2010-12-01

    Full Text Available Las técnicas actuales de diagnóstico prenatal de enfermedades génicas y cromosómicas incluyen procedimientos invasivos que conllevan un pequeño, pero significativo, riesgo. Por muchos años se ha estudiado la posibilidad de utilizar células fetales en circulación materna; sin embargo, ha fracasado su implementación clínica debido a su escasez y persistencia luego del parto. Desde hace más de una década se detectó ADN fetal libre en sangre de embarazadas. Este sería de origen placentario e indetectable después del parto, y fuente de material fetal para el desarrollo de técnicas diagnósticas utilizando sangre materna. No obstante, la mayoría del ADN libre en circulación materna es de origen materno con una contribución fetal del 3% al 6% aumentando a lo largo de la gestación. Dado que los métodos actuales no permiten separar el ADN libre fetal del materno, las aplicaciones se focalizan en el análisis de genes no presentes en la madre, tales como secuencias del cromosoma Y, o gen RHD en madres Rh negativas, o mutaciones paternas o de novo. Asimismo, la detección de ARN fetal libre en sangre de embarazadas abrió la posibilidad de obtener información acerca de patrones de expresión génica de tejidos embrionarios y, utilizando genes que se expresan sólo en la unidad feto-placentaria, se podría establecer un control de presencia de material fetal, independiente del material genético de la madre. El presente trabajo describe las evidencias acerca del pasaje de ácidos nucleicos fetales a circulación materna, su aplicación actual en el diagnóstico prenatal y posibles usos futuros.

  4. Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

    Science.gov (United States)

    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David Gradus; Haidar, Hazar; Rousseau, François

    2016-01-01

    Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.

  5. Comparing diagnostic classification of neurobehavioral disorder associated with prenatal alcohol exposure with the Canadian fetal alcohol spectrum disorder guidelines: a cohort study.

    Science.gov (United States)

    Sanders, James L; Breen, Rebecca E Hudson; Netelenbos, Nicole

    2017-01-01

    Diagnostic criteria have recently been introduced in the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5), for neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). The purpose of this study is to assess the classification of this condition using the Canadian fetal alcohol spectrum disorder (FASD) multidisciplinary diagnostic guidelines as the standard of comparison. First, classification of ND-PAE was compared with Canadian FASD diagnoses of fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder. Second, classification of ND-PAE was compared with FAS and pFAS only, a criterion for which includes facial features highly predictive of prenatal alcohol exposure and effects. Eighty-two patients underwent multidisciplinary clinical evaluations using the Canadian FASD diagnostic guidelines between 2011 and 2015. Two clinicians independently reviewed patient files for evidence of diagnostic criteria for ND-PAE when applying an impairment cut-off level of 2 or more standard deviations below the mean, or clinically significant impairment in the absence of standardized norm-referenced measures. Good interrater reliability was established between clinicians (κ = 0.79). Classifications of ND-PAE and Canadian FASD diagnoses, including alcohol-related neurodevelopmental disorder, were moderately correlated (Cramer V [82] = 0.44, p 0.05). Although there is considerable overlap between both sets of criteria, ND-PAE was less likely to identify patients with FASD. Although the neurobehavioral domains assessed by ND-PAE are supported in research, its diagnostic structure restricts the identification of FASD at the impairment threshold of 2 or more standard deviations. A disconnect remains with regard to impairment thresholds between FASD, which relies on neurodevelopmental data, and ND-PAE, which relies on clinical judgment.

  6. Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Rasmussen M

    2016-01-01

    Full Text Available Maria Rasmussen,1 Morten Smærup Olsen,2 Lone Sunde,1,3 Lars Pedersen,2 Olav Bjørn Petersen4 1Department of Clinical Genetics, Aarhus University Hospital, Skejby, 2Department of Clinical Epidemiology, Aarhus University Hospital, Skejby, 3Department of Biomedicine, Aarhus University, Aarhus, 4Department of Gynecology and Obstetrics, Aarhus University Hospital, Skejby, Denmark Objective: Restricting studies of severe congenital malformations to live-born children may introduce substantial bias. In this study, we estimated the attendance to the second-trimester fetal malformation screening program. We also estimated the positive predictive value (PPV of prenatally assigned International Classification of Disease-10 diagnoses recorded in the Danish National Patient Registry (DNPR and the completeness of case registration. We used kidney anomalies as an example. Methods: We identified the proportion of all Danish live-born children from January 1, 2007 to December 31, 2012, who were scanned during the second trimester using the DNPR and the Civil Registration System. Details of all fetuses with specific kidney anomaly diagnoses according to the DNPR were retrieved. The PPV was estimated using the nationwide Astraia database of pregnancy medical charts or traditional medical charts, as gold standard. The completeness was assessed using the total number of cases estimated by the capture–recapture method. Results: Of 372,263 live born infants, 97.3% were scanned during the second trimester. We identified 172 fetuses in the DNPR. Of these, 149 had kidney anomalies according to Astraia or medical chart review, corresponding to a PPV of 87% (95% CI: 81%–91%. The estimated completeness was 43% (95% CI: 38%–49% for the DNPR and 75% (95% CI: 70%–79% for Astraia. Conclusion: Almost all live-born children were scanned during the second trimester in Denmark. However, low completeness may hamper the use of the DNPR for studies of prenatally detected

  7. Diagnosis of fetal neural tube defects by MRI

    International Nuclear Information System (INIS)

    Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Pan Huihong

    2010-01-01

    Objective: To explore the diagnostic value of MRI on fetal neural tube defects. Methods: Ten pregnant women, aged from 25 to 35 years (average 28 years) and with gestation from 20-39 weeks (average 33 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound (US) studies. The imaging protocol included fast-imaging employing steady-state acquisition, single-shot FSE and T 1 -weighted fast inversion recovery motion insensitive sequences in the axial, fromtal, and sagittal planes relative to the fetal brain, thorax, abdomen, and spines. Prenatal US and MRI findings were compared with postnatal MRI diagnoses (3 fetuses) or autopsy (7 fetuses). Results: Ten pregnant women (9 with a single fetus and 1 with twin fetuses) were examined. For all cases, the diagnoses established by MRI were correct when compared with postnatal diagnosis or autopsy. In 7 cases, US and MRI findings were in complete agreement with postnatal diagnoses. US missed the diagnosis in 1 cases and misdiagnosed in 2 cases. Ten neural tube defects in this study included anencephaly (1 case), exencephaly (1 case), meningoencephalocele associated with amniotic band sequence (1 case), meningocele (1 case), thoracic myelomeningocele (1 case), lumbar spinal bifida (1 case), sacroiliac myelomeningocele (2 cases), sacroiliac large cystic spinal meningocele (1 case), sacroiliac spinal bifida (1 case). Conclusions: Prenatal MRI is effective in the assessment of fetal neural tube defects. It can exactly discriminate herniated contents and locate the spinal lesion level. (authors)

  8. "It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

    Science.gov (United States)

    Menezes, Melody A; Hodgson, Jan M; Sahhar, Margaret A; Aitken, Maryanne; Metcalfe, Sylvia A

    2010-12-01

    Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.

  9. A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

    Directory of Open Access Journals (Sweden)

    Melih Atahan Güven

    2009-06-01

    Full Text Available AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect. CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings. CONCLUSION: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

  10. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  11. Diagnóstico pré-natal de displasia tanatofórica: papel do ultrassom fetal Prenatal diagnosis of thanatophoric dysplasia: role of the fetal ultrasound

    Directory of Open Access Journals (Sweden)

    Paulo Ricardo G Zen

    2011-09-01

    Full Text Available OBJETIVO: Relatar o caso de um paciente com displasia tanatofórica, uma forma autossômica dominante e letal de nanismo, diagnosticado ainda no período pré-natal, e revisar a literatura, discutindo os principais diagnósticos diferenciais e ressaltando a importância do ultrassom fetal na identificação de fetos portadores dessa displasia. DESCRIÇÃO DO CASO: O paciente é o segundo filho de pais jovens sem história familiar de doenças genéticas. O ultrassom fetal realizado com 35 semanas de gestação mostrou polidrâmnio, proeminência frontal e desproporção entre crânio e tronco, com hipoplasia torácica e encurtamento dos ossos longos, compatível com o diagnóstico de displasia tanatofórica. Ao nascimento, a criança era pequena e possuía hipotonia, macrocefalia, fontanelas amplas, hipoplasia de face média, olhos protrusos, hemangioma plano no nariz e pálpebras, nariz em sela, micrognatia, pescoço e tórax curtos e encurtamento importante de braços, antebraços, coxas e pernas. A avaliação radiográfica mostrou crânio com grande diâmetro transverso, tórax com costelas curtas e corpos vertebrais reduzidos, importante encurtamento e deformidade dos ossos longos dos membros superiores e inferiores (os fêmures eram curvos e hipoplasia da bacia. Esses achados confirmaram o diagnóstico pré-natal de displasia tanatofórica. O paciente evoluiu para o óbito poucos dias após o nascimento devido à insuficiência respiratória. COMENTÁRIOS: A ultrassonografia fetal é um método não invasivo capaz de diagnosticar inúmeras displasias ósseas, incluindo a tanatofórica. A importância do diagnóstico intra-útero reside no fato de que auxilia no diagnóstico diferencial, e permite o aconselhamento genético à família.OBJECTIVE: To report a patient with thanatophoric dysplasia, an autosomal dominant and lethal form of nanism diagnosed in the prenatal period and to review the literature, discussing the main differential

  12. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    International Nuclear Information System (INIS)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L.

    2005-01-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound

  13. Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Low, A.S.C.; Lee, S.L.; Tan, A.S.A.; Chan, D.K.L.; Chan, L.L. [Singapore General Hospital (Singapore). Depts. of Diagnostic Radiology, Obstetrics and Gynecology and Neonatology

    2005-10-01

    We describe a postnatally diagnosed case of Walker-Warburg syndrome - a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico-radiological diagnostic features and discuss the difficulties encountered with prenatal diagnosis, especially in cases with no positive family history. An increased awareness of this rare but lethal condition, and a high index of suspicion during routine antenatal ultrasound, could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling. Brain/brainstem, congenital, magnetic resonance imaging, obstetrics, pediatrics, ultrasound.

  14. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma – Single Centre Experience

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana

    2017-01-01

    BACKGROUND Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient’s haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor

  15. Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

    International Nuclear Information System (INIS)

    Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

    1990-01-01

    We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

  16. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.

    Science.gov (United States)

    Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly-Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux-Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel-Roy, Camille; Carré-Pigeon, Frédérique; Flori, Elisabeth; Mugneret, Francine; Jaillard, Sylvie; Yardin, Catherine; Harbuz, Radu; Collonge-Rame, Marie-Agnès; Vago, Philippe; Valduga, Mylène; Leporrier, Nathalie; Vialard, François

    2016-06-01

    Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997. This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded. Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY). The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  17. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2012-11-01

    Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

  18. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

    Science.gov (United States)

    Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

    2012-01-01

    Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods. PMID:22453293

  19. Fetal sex modifies effects of prenatal stress exposure and adverse birth outcomes.

    Science.gov (United States)

    Wainstock, Tamar; Shoham-Vardi, Ilana; Glasser, Saralee; Anteby, Eyal; Lerner-Geva, Liat

    2015-01-01

    Prenatal maternal stress is associated with pregnancy complications, poor fetal development and poor birth outcomes. Fetal sex has also been shown to affect the course of pregnancy and its outcomes. The aim of this study was to evaluate whether fetal sex modifies the association between continuous exposure to life-threatening rocket attack alarms and adverse pregnancy outcomes. A retrospective cohort study was conducted in which the exposed group was comprised of 1846 women exposed to rocket-attack alarms before and during pregnancy. The unexposed group, with similar sociodemographic characteristics, delivered during the same period of time at the same medical center, but resided out of rocket-attack range. Multivariable models for each gender separately, controlling for possible confounders, evaluated the risk associated with exposure for preterm births (PTB), low birthweight (LBW), small for gestational age and small head circumference (HC). In both univariable and multivariable analyses exposure status was a significant risk factor in female fetuses only: PTB (adj. OR = 1.43; 1.04-1.96), LBW (adj. OR = 1.41; 1.02-1.95) and HC stress.

  20. The fetal programming effect of prenatal smoking on Igf1r and Igf1 methylation is organ- and sex-specific.

    Science.gov (United States)

    Meyer, Karolin F; Verkaik-Schakel, Rikst Nynke; Timens, Wim; Kobzik, Lester; Plösch, Torsten; Hylkema, Machteld N

    2017-01-01

    The impact of prenatal smoke exposure (PSE) on DNA methylation has been demonstrated in blood samples from children of smoking mothers, but evidence for sex-dependent smoke-induced effects is limited. As the identified differentially methylated genes can be associated with developmental processes, and insulin-like growth factors (IGFs) play a critical role in prenatal tissue growth, we hypothesized that PSE induces fetal programming of Igf1r and Igf1. Using a mouse model of smoking during pregnancy, we show that PSE alters promoter methylation of Igf1r and Igf1 and deregulates their gene expression in lung and liver of fetal (E17.5) and neonatal (D3) mouse offspring. By further comparing female versus male, lung versus liver, or fetal versus neonatal time point, our results demonstrate that CpG site-specific aberrant methylation patterns sex-dependently vary per organ and time point. Moreover, PSE reduces gene expression of Igf1r and Igf1, dependent on organ, sex, and offspring's age. Our results indicate that PSE may be a source of organ-specific rather than general systemic fetal programming. This is exemplified here by gene promoter methylation and mRNA levels of Igf1r and Igf1, together with a sex- and organ-specific naturally established correlation of both parameters that is affected by prenatal smoke exposure. Moreover, the comparison of fetuses with neonates suggests a CpG site-dependent reversibility/persistence of PSE-induced differential methylation patterns.

  1. Prenatal testing for hemolytic disease of the newborn and fetal neonatal alloimmune thrombocytopenia - current status.

    Science.gov (United States)

    Avent, Neil D

    2014-12-01

    Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).

  2. Prenatal Diagnosis and Postnatal Ultrasound Findings of Cloacal Anomaly: A Case Report

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    Lívia Teresa Moreira Rios

    2012-01-01

    Full Text Available Cloacal malformation is an extremely rare fetal pathological condition that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography on a 20-year-old caucasian woman (G4P1A2 at 33 weeks of pregnancy showed the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambiguous genitalia, and a single umbilical artery. The pregnancy developed accentuated oligohydramnios, and presence of a fetal brain-sparing effect was diagnosed using arterial Doppler velocimetry. The newborn showed abdominal distension, ambiguous genitalia, and rectal atresia, with a single perineal opening. Pelvic ultrasound done on the first day after delivery revealed the presence of a large retrovesical septated cystic mass of dense content in the fetal abdomen, and bilateral hydronephrosis. Hysterotomy was performed, and 70 mL of dense liquid was drained through an abdominal colostomy. The infant died on the 27th day of life as a result of infectious complications. Prenatal diagnosing of female urogenital anomalies is usually difficult because of their rarity, different types of manifestation, and lack of characteristic ultrasound signs. Presence of a septated cyst with dense content in the fetal abdomen confirms the finding of hydrometrocolpos, thus raising clinical suspicion of a cloacal anomaly.

  3. Prenatal fine particulate exposure and early childhood asthma: Effect of maternal stress and fetal sex.

    Science.gov (United States)

    Lee, Alison; Leon Hsu, Hsiao-Hsien; Mathilda Chiu, Yueh-Hsiu; Bose, Sonali; Rosa, Maria José; Kloog, Itai; Wilson, Ander; Schwartz, Joel; Cohen, Sheldon; Coull, Brent A; Wright, Robert O; Wright, Rosalind J

    2018-05-01

    The impact of prenatal ambient air pollution on child asthma may be modified by maternal stress, child sex, and exposure dose and timing. We prospectively examined associations between coexposure to prenatal particulate matter with an aerodynamic diameter of less than 2.5 microns (PM 2.5 ) and maternal stress and childhood asthma (n = 736). Daily PM 2.5 exposure during pregnancy was estimated using a validated satellite-based spatiotemporally resolved prediction model. Prenatal maternal negative life events (NLEs) were dichotomized around the median (high: NLE ≥ 3; low: NLE stress and child sex. Bayesian distributed lag interaction models identified a critical window of exposure (19-23 weeks' gestation, cumulative odds ratio, 1.15; 95% CI, 1.03-1.26; per interquartile range [1.7 μg/m 3 ] increase in prenatal PM 2.5 level) during which children concomitantly exposed to prenatal PM 2.5 and maternal stress had increased risk of asthma. No significant association was seen in children born to women reporting low prenatal stress. When examining modifying effects of prenatal stress and fetal sex, we found that boys born to mothers with higher prenatal stress were most vulnerable (19-21 weeks' gestation; cumulative odds ratio, 1.28; 95% CI, 1.15-1.41; per interquartile range increase in PM 2.5 ). Prenatal PM 2.5 exposure during sensitive windows is associated with increased risk of child asthma, especially in boys concurrently exposed to elevated maternal stress. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  4. Prenatal diagnosis: the irresistible rise of the 'visible fetus'.

    Science.gov (United States)

    Löwy, Ilana

    2014-09-01

    Prenatal diagnosis was developed in the 1970s, a result of a partly contingent coming together of three medical innovations-amniocentesis, the study of human chromosomes and obstetrical ultrasound-with a social innovation, the decriminalization of abortion. Initially this diagnostic approach was proposed only to women at high risk of fetal malformations. Later, however, the supervision of the fetus was extended to all pregnant women. The latter step was strongly favoured by professionals' aspiration to prevent the birth of children with Down syndrome, an inborn condition perceived as a source of suffering for families and a burden on public purse. Experts who promoted screening for 'Down risk' assumed that the majority of women who carry a Down fetus will decide to terminate the pregnancy, and will provide a private solution to a public health problem. The generalization of screening for Down risk increased in turn the frequency of diagnoses of other, confirmed or potential fetal pathologies, and of dilemmas linked with such diagnoses. Debates on such dilemmas are usually limited to professionals. The transformation of prenatal diagnosis into a routine medical technology was, to a great extent, an invisible revolution. Copyright © 2013 Elsevier Ltd. All rights reserved.

  5. Prenatal Diagnosis of Sacrococcygeal Teratoma Using Two and Three-Dimensional Ultrasonography

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    Livia Teresa Moreira Rios

    2012-01-01

    Full Text Available Sacrococcygeal teratoma accounts for half of all fetal tumors, with a prevalence of 1 : 40,000 births. It is believed to originate from pluripotent cells in Hensen's nodule. Although most are benign, they are associated with high morbidity and mortality rates because the fetus develops congestive heart failure and hydrops. Factors leading to poor prognosis include solid components in the mass, and hydrops diagnosed before the 30th week. A case of prenatal sacrococcygeal teratoma diagnosed using B-mode and color Doppler two-dimensional ultrasonography (2DUS is described, in which three-dimensional ultrasonography (3DUS enabled characterization of the extent of fetal lesions and allowed the parents to understand the pathological condition better. A 20-year-old primigravida was referred with a solid mass diagnosed in the lumbosacral spine. Examinations performed at our institution revealed pregnancy of 23 weeks and 4 days, with a female fetus presenting a bulky solid mass with cystic components and calcifications, measuring 7.7×9.1×12.2 cm, starting from the sacral region, with internal flow seen on color Doppler. A new ultrasound confirmed fetal death at 25 weeks and 4 days. Postnatal findings confirmed the diagnosis of sacrococcygeal teratoma. 3DUS can be used in cases of sacrococcygeal teratoma to assess the development of tumor during the prenatal and to allow better understanding of this anomaly by the parents.

  6. Utility of fetal cardiac magnetic resonance imaging to assess fetuses with right aortic arch and right ductus arteriosus.

    Science.gov (United States)

    Dong, Su-Zhen; Zhu, Ming

    2018-06-01

    To evaluate the utility of fetal cardiac magnetic resonance imaging (MRI) to diagnose right aortic arch (RAA) with right ductus arteriosus. This retrospective study included six fetuses with right aortic arch and right ductus arteriosus. The six fetal cases were examined using a 1.5-T magnetic resonance unit. The steady-state free precession (SSFP) and single-shot turbo spin echo (SSTSE) sequences were used to evaluate the fetal heart and airway. The gestational age of the six fetuses ranged from 22 to 35 weeks (mean, 26.5 weeks). The age of the pregnant women ranged from 23 to 40 years (mean 31 years). Fetal cardiac MRI diagnosed the six fetal cases with RAA with right ductus arteriosus correctly. Among the six fetuses, four were associated with other congenital heart defects. In three of six cases, the diagnoses established using prenatal echocardiography (echo) was correct when compared with postnatal diagnosis. Fetal cardiac MRI is a useful complementary tool to assess fetuses with RAA and right ductus arteriosus.

  7. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

    International Nuclear Information System (INIS)

    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han

    2007-01-01

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  8. A Case of Fetal Herpes Simplex Encephalitis Diagnosed Prenatally by Ultrasonography in the Third Trimester

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Mi Bum; Kim, Yu Ri; Hwang, Han Sung; Park, Yong Won; Kim, Young Han [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2007-12-15

    Almost all reported incidences of herpes simplex virus (HSV) infection in newborns result as a complication of rupture of the amniotic membranes or the delivery of the baby, but infection via the placenta and amniotic membranes is rare. Ventriculomegaly was detected at 36 weeks of gestation by prenatal ultrasonography, and an emergency cesarean section was then performed at 36 weeks of gestation. We report a case of herpes simplex encephalitis detected at 36 weeks of gestation by prenatal ultrasonography, which was confirmed by a postnatal serologic test and CSF test with a brief review of literature

  9. Prenatal control of Hb Bart's disease in mainland China: can we do better?

    Science.gov (United States)

    He, Ping; Yang, Yu; Li, Ru; Li, Dong-Zhi

    2014-01-01

    The aim of the present study was to report a 3-year experience on the prenatal control of Hb Bart's (γ4) disease in Mainland China. All pregnancies with fetal Hb Bart's disease were included from January 2011 to December 2013. The main clinical characteristics of the affected pregnancies were reviewed, including maternal reproductive history, prenatal care in the current pregnancy, the gestation of pregnancy at the time of booking, the gestation at the time of prenatal diagnosis (PND), and the complications associated with the pregnancy. A total of 246 cases of fetal Hb Bart's disease were identified during the study period; among these, 177 (72.0%) were diagnosed in early gestation (≤24 weeks), and 69 (28.0%) in late gestation. Most (87.0%) of the patients presenting in late pregnancy had late or no prenatal care. Twenty (29.0%) had major obstetrical complications in patients presenting in late pregnancy, and five (5.0%) in patients presenting in relatively early pregnancy. The delay in PND deprived couples of opportunities to make informed decisions early in pregnancy. Efforts for designing and targeting strategies to improve the timeliness of prenatal care are urgently needed.

  10. Fetal central nervous system anomalies: fast MRI vs ultrasonography

    International Nuclear Information System (INIS)

    Yang Wenzhong; Xia Liming; Yang Minjie; Feng Dingyi; Hu Junwu; Zou Mingli; Wang Chengyuan; Chen Xinlin; Yang Xiaohong

    2006-01-01

    Objective: To evaluate the ability of fast MRI to detect fetal central nervous system (CNS) anomalies and to compare its performance with that of prenatal ultrasonography (US). Methods Forty-eight pregnant women were detected by conventional prenatal US and MRI. Twenty-two fetuses with CNS anomalies were conformed by autopsy and follow-up. The MR and US appearances of fetal CNS structure were compared to each other and to that of autopsy. Results: A total of 26 CNS anomalies were identified by autopsy (n=17) and follow-up (n=9) including anencephaly (n=6), rachischisis (n=2), encephalocele (n=3), congenital hydrocephalus (n=7), alobar holoprosencephaly (n=1), porencephalia (n=3), arachnoid cyst (n=2) and choroids plexus cyst (n=2). US diagnosed 24 CNS anomalies, the correct diagnostic rate was 92.3%, the false-positive rate was 3.8%, the missed-diagnostic rate was 3.8%. MRI diagnosed 23 CNS anomalies, the correct-diagnostic rate was 88.5%, the false-positive rate was 3.8% ,the missed-diagnostic rate was 7.7%. There was no difference between US and MRI (P>0.05), but MRI have larger FOV, higher tissues resolution, and can demonstrate gray-white matter in detail. Conclusions: MR imaging has a similar sensitivity to that of US in the detection of fetal CNS anomalies. (authors)

  11. Fetal polycystic renal disease: prenatal sonographic findings with pathologic correlation

    International Nuclear Information System (INIS)

    Jun, Soon Ae; Park, Yong Hyun; Cha, Sun Hee; Kay, Jung Woong; Cho, Joo Yeon; Cha, Kwang Yul; Cha, Kyung Sub; Chi, Je G.

    1990-01-01

    Polycystic renal disease are congenital disorders, most of which are fatal in the postnatal period. A series of ten cases of polycystic renal disease diagnosed prenatally by ultrasonography is presented. Diagnostic criteria of ultrasonography for cystic renal disease are; 1. enlarge kidney (4 cases) 2. echogenic density of kidney (3 cases) 3. 0.4 - 0.9cm sized multiple cysts within the renal cortex (3 cases) 4. decreased amount of amniotic fluid (4 cases) 5. hydronephrosis (4 cases) 6. distended bladder (2 cases) 7. absence of bladder (2 cases) Eight of ten cases were confirmed by autopsy. Seven cases had other associated congenital anomalies, i.e. pulmonary hypoplasia (5), hepatic fibrosis (3), congenital heart disease (3), tracheoesophageal fistula with imperforate anus (1), caudal regression syndrome (1), Meckel-Gruber syndrome (1) and ambiguous genitalia (2). Additional cytogenetic study of the fetus and the careful family history taking followed by prenatal diagnosis of cystic renal disease. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention

  12. Urinary tract infections in children with prenatal hydronephrosis: A risk assessment from the Society for Fetal Urology Hydronephrosis Registry.

    Science.gov (United States)

    Zee, Rebecca S; Herbst, Katherine W; Kim, Christina; McKenna, Patrick H; Bentley, Tom; Cooper, Christopher S; Herndon, C D Anthony

    2016-08-01

    Risk factors for urinary tract infection (UTI) in children with prenatal hydronephrosis (PNH) are not clearly defined. Our study aim was to describe incidence and identify factors associated with UTI among a cohort of children diagnosed with PNH. Patients with confirmed PNH from four medical centers were prospectively enrolled in the Society for Fetal Urology (SFU) hydronephrosis registry between 9/2008 and 10/2015. Exclusion criteria included enrollment because of UTI, associated congenital anomalies, and less than 1-month follow-up. Univariate analysis was performed using Fisher's Exact test or Mann-Whitney U. Probability for UTI was determined by Kaplan-Meier curve. Median follow-up was 12 (IQR 4-20) months in 213 patients prenatally diagnosed with hydronephrosis. The majority of the cohort was male (72%), Caucasian (77%), and 26% had high grade (SFU 3 or 4) hydronephrosis. Circumcision was performed in 116/147 (79%) with known status, 19% had vesicoureteral reflux (VUR), and 11% had ureteral dilatation. UTI developed in 8% (n = 18), 89% during their first year of life. Univariate analysis found UTI developed more frequently in females (p hydronephrosis grade nor parenchymal renal cyst to be significant risk factors for UTI development among females. However, hydronephrosis grade and circumcision status were significant risk factors for development of UTI among males (p hydronephrosis. However, we were unable to demonstrate an association between UTI and the use of PA, presence of VUR, dilated ureter, or renal duplication in this observational registry. Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  13. Fetal development and renal function in adult rats prenatally subjected to sodium overload.

    Science.gov (United States)

    Cardoso, Henriqueta D; Cabral, Edjair V; Vieira-Filho, Leucio D; Vieyra, Adalberto; Paixão, Ana D O

    2009-10-01

    The aims of this study were (1) to evaluate two factors that affect fetal development--placental oxidative stress (Ox) and plasma volume (PV)--in dams with sodium overload and (2) to correlate possible alterations in these factors with subsequent modifications in the renal function of adult offspring. Wistar dams were maintained on 0.17 M NaCl instead of water from 20 days before mating until either the twentieth pregnancy day/parturition or weaning. Colorimetric methods were used to measure Ox in maternal and offspring tissues, PV, 24-h urinary protein (U(Prot24 h)) and serum triacylglycerols (TG) and cholesterol (Chol). Renal hemodynamics was evaluated in the offspring at 90 days of age using a blood pressure transducer, a flow probe and inulin clearance to measure mean arterial pressure (MAP), renal blood flow and glomerular filtration rate (GFR), respectively. The number of nephrons (NN) was counted in kidney suspensions. Dams showed unchanged PV, placental Ox and fetal weight but increased U(Prot24 h) (150%, P sodium-overloaded pups showed increased U(Prot24 h) (45%, P sodium-overloaded rats showed increased U(Prot24 h) (27%, P sodium-overloaded group. We conclude that salt overload from the prenatal stage until weaning leads to alterations in lipid metabolism and in the renal function of the pups, which are additional to those alterations seen in rats only overloaded prenatally.

  14. Prenatal 3- and 4-dimensional Ultrasonographic Findings of Giant Fetal Nuchal Hemangioma

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2007-10-01

    Full Text Available A precise prenatal diagnosis of hemangioma may be uncertain although a variety of the antenatal appearances on 2-dimensional sonography have been reported. A 27-year-old primigravida was referred at 32 weeks of gestation for evaluation of a fetal nuchal mass. Two-dimensional sonography showed an extracranial mixed echogenic mass (65 × 54 × 59 mm occupying the posterior neck. Color Doppler imaging revealed intense hypervascularization. Three-dimensional (3D and 4-dimensional (4D sonography showed that the mass was lobulated, with a lumpy internal structure. Nuchal hemangioma was further confirmed by clinical examination and postnatal magnetic resonance imaging. The tumor began to regress in size when the infant was 7 months old. Prenatal 3D/4D ultrasound techniques could be considered as complementary diagnostic tools for such a tumor. They have the advantages of providing accurate and inexpensive virtual reality images through more realistic interactions with the virtualized in utero condition.

  15. Prenatal Sonographic Findings of Polysplenic Syndrome

    International Nuclear Information System (INIS)

    Yoo, Jeong Hyun; Suh, Jeong Soo; Lee, Young Ho

    2004-01-01

    We report 6 cases of polysplenic syndrome diagnosed on prenatal sonography. The mean menstrual age at the time of presentation was 275 weeks (range 184 to 38 weeks). All cases were examined using level-II prenatal sonography. The sonographic findings of polysplenic syndrome were retrograde analyzed and compared to the autopsy or postnatal findings. Polysplenia was detected in 5 cases on the prenatal sonography. Associated cardiovascular anomalies were detected in all 6 cases, all of which had more than one anomaly, namely complete atrioventricular septal defect in two cases, double outlet right ventricle combined with rudimentary LV or mitral atresia in two cases and VSD and ASD in one case each. There were three cases of interrupted IVC with azygous continuation of the posterior thorax. Bradycardia was observed in 2 cases, one of which showed AV dissociation of rhythm. Visceral abnormalities were present in all cases and there were combined anomalies such as echogenic bowel, pelviectasia, horseshoe kidney, and posterior neck cystic hygroma and fetal hydrops. Four cases terminated pregnancy. The autopsy results of 2 cases were comparable to those of the prenatal sonography, however autopsies were not performed in 2 cases. One fetus near term was delivered and the baby subsequently underwent heart surgery and was still alive at the last follow-up. The remaining one case was lost to follow-up. If multiple fetal anomalies, including complex heart disease and polysplenia, are detected in the prenatal sonography, a diagnosis of polysplenic syndrome can be made. IVC interruption with azygous continuation can also be helpful in the diagnosis of polysplenic syndrome, and this can be observed by detecting the double vessel of the posterior thorax

  16. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  17. Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot: A Meta-analysis of Perinatal Outcomes and Associated Genetic Disorders.

    Science.gov (United States)

    Zhao, Yili; Abuhamad, Alfred; Fleenor, Jonathan; Guo, Yajun; Zhang, Wangshu; Cao, Danming; Zeng, Shi; Sinkovskaya, Elena; Zhou, Qichang

    2016-05-01

    The aim of this systematic review was to compare the postnatal outcomes, genetic testing results, and sonographic findings in 3 subtypes of tetralogy of Fallot. Thirty-six articles from the MEDLINE and EMBASE databases were selected for this review. The postnatal outcomes, karyotyping results, and sonographic findings of fetal tetralogy of Fallot with pulmonary stenosis, tetralogy of Fallot with pulmonary atresia, and tetralogy of Fallot with an absent pulmonary valve were collected and compared. The survival rates (termination of pregnancy was considered fetal death) for prenatally diagnosed tetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve at the end of neonatal period were significantly lower than the rate for tetralogy of Fallot with pulmonary stenosis (P tetralogy of Fallot with pulmonary atresia was also lower at birth (P tetralogy of Fallot with pulmonary stenosis (Ptetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve (P tetralogy of Fallot with pulmonary stenosis, a right aortic arch was more associated with tetralogy of Fallot with pulmonary atresia (32.6%; P tetralogy of Fallot with an absent pulmonary valve (87.5%; P tetralogy of Fallot. Documenting those details at diagnosis can help specialists better counsel their patients. © 2016 by the American Institute of Ultrasound in Medicine.

  18. Prenatal and Postnatal Management of Hydronephrosis

    Science.gov (United States)

    Rao, Pravin K.; Palmer, Jeffrey S.

    2009-01-01

    The majority of pregnant women in the U.S. undergo prenatal ultrasonography and approximately 0.5% of these examinations will detect fetal malformations. Up to one-half of these abnormalities include the genitourinary system and the most common urological finding is hydronephrosis. Some conditions associated with prenatal hydronephrosis portend a poor prognosis, while others can follow a fairly benign course. This review focuses on the definition and prenatal assessment of hydronephrosis, fetal intervention, and postnatal management. PMID:19618087

  19. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Imen Hadjkacem

    Full Text Available Abstract Objective: To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD by comparing them to their siblings without autistic disorders. Method: The present study is cross sectional and comparative. It was conducted over a period of three months (July-September 2014. It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS. Results: Our study revealed a higher prevalence of prenatal, perinatal and postnatal factors in children with ASD in comparison with unaffected siblings. It showed also a significant association between perinatal and postnatal factors and ASD (respectively p = 0.03 and p = 0.042. In this group, perinatal factors were mainly as type of suffering acute fetal (26% of cases, long duration of delivery and prematurity (18% of cases for each factor, while postnatal factors were represented principally by respiratory infections (24%. As for parental factors, no correlation was found between advanced age of parents at the moment of the conception and ASD. Likewise, no correlation was observed between the severity of ASD and different factors. After logistic regression, the risk factors retained for autism in the final model were: male gender, prenatal urinary tract infection, acute fetal distress, difficult labor and respiratory infection. Conclusions: The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others, as determinant variables for the genesis of ASD.

  20. Human prenatal diagnosis

    International Nuclear Information System (INIS)

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis

  1. Postnatal monitoring of prenatal diagnosed hydro nephrosis

    International Nuclear Information System (INIS)

    Bueva, A.; Stefanov, S.; Palashev, Y.

    2011-01-01

    Ultrasound has revolutionized pediatric nephrology in the last decades and has a major impact on management and treatment of several children's kidneys diseases. Hydronephrosis is the most common anomaly in childhood. Progress in fetal imaging in the last years has a important impact in diagnosing congenital hydronephrosis. The current study try to establish authors opinion on problem over coming in the every day practice in pediatric nephrologist - is surgery mandatory in high grade pediatric hydronephrosis. A discussion is undergoing in the literature, following communications that high grade hydronephrosis tend spontaneously to regress in more that 65% according to Koff (2000, 2008)

  2. Midline corpus callosum is a neuroanatomical focus of fetal alcohol damage.

    Science.gov (United States)

    Bookstein, Fred L; Sampson, Paul D; Connor, Paul D; Streissguth, Ann P

    2002-06-15

    Prenatal exposure to high levels of alcohol often induces birth defects that combine morphological stigmata with neurological or neuropsychological deficits. But it has proved problematic to diagnose these syndromes in adolescents and adults, in whom the morphological signs are absent or attenuated, the behavioral deficits nonspecific, and the exposure history often difficult to reconstruct. Localizing the associated brain abnormalities might circumvent most of these difficulties. To this end, three-dimensional (3D) locations were recorded for 67 homologous points on or near the corpus callosum in magnetic resonance (MR) brain images from 60 adolescents and adults who were normal, 60 diagnosed with fetal alcohol syndrome, and 60 diagnosed with fetal alcohol effects. We combined the standard statistical approach to this type of geometric data, Procrustes analysis, with a multivariate strategy focusing on differences in variability. In this data set, the shape of the corpus callosum and its vicinity proves systematically much more variable in the alcohol-affected brains than in those of the normal subjects. From this excess variability follows a promising classification rule, having both high sensitivity (100 out of 117) and high specificity (49 out of 60) in this sample. The discrimination uses four landmark points and two summary scores of callosal outline shape. The information from the corpus callosum and vicinity, as viewed in MR brain images of full-grown subjects, may serve as a permanent record of the prenatal effects of alcohol, even in patients who are first suspected of these syndromes relatively late in life or who lack the facial signs of prenatal alcohol damage. The statistical pattern underlying the callosal diagnosis also leads to speculations on mechanisms of the prenatal damage. Copyright 2002 Wiley-Liss, Inc.

  3. Prenatal centrifugation: A model for fetal programming of adult weight?

    Science.gov (United States)

    Baer, Lisa A.; Rushing, Linda; Wade, Charles E.; Ronca, April E.

    2005-08-01

    'Fetal programming' is a newly emerging field that is revealing astounding insights into the prenatal origins of adult disease, including metabolic, endocrine, and cardiovascular pathophysiology. In the present study, we tested the hypothesis that rat pups conceived, gestated and born at 2-g have significantly reduced birth weights and increased adult body weights as compared to 1-g controls. Offspring were produced by mating young adult male and female rats that were adapted to 2-g centrifugation. Female rats underwent conception, pregnancy and birth at 2-g. Newborn pups in the 2-g condition were removed from the centrifuge and fostered to non-manipulated, newly parturient dams maintained at 1-g. Comparisons were made with 1-g stationary controls, also cross- fostered at birth. As compared to 1-g controls, birth weights of pups gestated and born at 2-g were significantly reduced. Pup body weights were significantly reduced until Postnatal day (P)12. Beginning on P63, body weights of 2-g-gestated offspring exceeded those of 1-g controls by 7-10%. Thus, prenatal rearing at 2-g restricts neonatal growth and increases adult body weight. Collectively, these data support the hypothesis that 2-g centrifugation alters the intrauterine milieu, thereby inducing persistent changes in adult phenotype.

  4. Prenatal MRI fetal lung volumes and percent liver herniation predict pulmonary morbidity in congenital diaphragmatic hernia (CDH).

    Science.gov (United States)

    Zamora, Irving J; Olutoye, Oluyinka O; Cass, Darrell L; Fallon, Sara C; Lazar, David A; Cassady, Christopher I; Mehollin-Ray, Amy R; Welty, Stephen E; Ruano, Rodrigo; Belfort, Michael A; Lee, Timothy C

    2014-05-01

    The purpose of this study was to determine whether prenatal imaging parameters are predictive of postnatal CDH-associated pulmonary morbidity. The records of all neonates with CDH treated from 2004 to 2012 were reviewed. Patients requiring supplemental oxygen at 30 days of life (DOL) were classified as having chronic lung disease (CLD). Fetal MRI-measured observed/expected total fetal lung volume (O/E-TFLV) and percent liver herniation (%LH) were recorded. Receiver operating characteristic (ROC) curves and multivariate regression were applied to assess the prognostic value of O/E-TFLV and %LH for development of CLD. Of 172 neonates with CDH, 108 had fetal MRIs, and survival was 76%. 82% (89/108) were alive at DOL 30, 46 (52%) of whom had CLD. Neonates with CLD had lower mean O/E-TFLV (30 vs.42%; p=0.001) and higher %LH (21.3±2.8 vs.7.1±1.8%; p20% (AUC=0.78; p20% were highly associated with indicators of long-term pulmonary sequelae. On multivariate analysis, %LH was the strongest predictor of CLD in patients with CDH (OR: 10.96, 95%CI: 2.5-48.9, p=0.002). Prenatal measurement of O/E-TFLV and %LH is predictive of CDH pulmonary morbidity and can aid in establishing parental expectations of postnatal outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure.

    Science.gov (United States)

    Kalberg, Wendy O; Provost, Beth; Tollison, Sean J; Tabachnick, Barbara G; Robinson, Luther K; Eugene Hoyme, H; Trujillo, Phyllis M; Buckley, David; Aragon, Alfredo S; May, Philip A

    2006-12-01

    Researchers are increasingly considering the importance of motor functioning of children with fetal alcohol spectrum disorder (FASD). The purpose of this study was to assess the motor development of young children with fetal alcohol syndrome (FAS) to determine the presence and degree of delay in their motor skills and to compare their motor development with that of matched children without FAS. The motor development of 14 children ages 20 to 68 months identified with FAS was assessed using the Vineland Adaptive Behavior Scales (VABS). In addition, 2 comparison groups were utilized. Eleven of the children with FAS were matched for chronological age, gender, ethnicity, and communication age to: (1) 11 children with prenatal alcohol exposure who did not have FAS and (2) 11 matched children without any reported prenatal alcohol exposure. The motor scores on the VABS were compared among the 3 groups. Most of the young children with FAS in this study showed clinically important delays in their motor development as measured on the VABS Motor Domain, and their fine motor skills were significantly more delayed than their gross motor skills. In the group comparisons, the young children with FAS had significantly lower Motor Domain standard (MotorSS) scores than the children not exposed to alcohol prenatally. They also had significantly lower Fine Motor Developmental Quotients than the children in both the other groups. No significant group differences were found in gross motor scores. For MotorSS scores and Fine Motor Developmental Quotients, the means and standard errors indicated a continuum in the scores from FAS to prenatal alcohol exposure to nonexposure. These findings strongly suggest that all young children with FAS should receive complete developmental evaluations that include assessment of their motor functioning, to identify problem areas and provide access to developmental intervention programs that target deficit areas such as fine motor skills. Fine motor

  6. Fetal MRI and ultrasound of congenital CNS anomalies

    International Nuclear Information System (INIS)

    Pogledic, I.; Reith, W.; Meyberg-Solomayer, G.

    2013-01-01

    In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [de

  7. Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

    Science.gov (United States)

    Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

    2018-03-31

    To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

  8. Fetal magnetic resonance imaging and human genetics

    International Nuclear Information System (INIS)

    Hengstschlaeger, Markus

    2006-01-01

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data

  9. Fetal magnetic resonance imaging and human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Hengstschlaeger, Markus [Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria)]. E-mail: markus.hengstschlaeger@meduniwien.ac.at

    2006-02-15

    The use of fetal magnetic resonance imaging (MRI), in addition to prenatal genetic testing and sonography, has the potential to improve prenatal diagnosis of genetic disorders. MRI plays an important role in the evaluation of fetal abnormalities and malformations. Fetal MRI often enables a differential diagnosis, a determination of the extent of the disorder, the prognosis, and an improvement in therapeutic management. For counseling of parents, as well as to basically understand how genetic aberrations affect fetal development, it is of great importance to correlate different genotypes with fetal MRI data.

  10. MR imaging of the fetal brain

    International Nuclear Information System (INIS)

    Glenn, Orit A.

    2010-01-01

    Fetal MRI is clinically performed to evaluate the brain in cases where an abnormality is detected by prenatal sonography. These most commonly include ventriculomegaly, abnormalities of the corpus callosum, and abnormalities of the posterior fossa. Fetal MRI is also increasingly performed to evaluate fetuses who have normal brain findings on prenatal sonogram but who are at increased risk for neurodevelopmental abnormalities, such as complicated monochorionic twin pregnancies. This paper will briefly discuss the common clinical conditions imaged by fetal MRI as well as recent advances in fetal MRI research. (orig.)

  11. MR imaging of the fetal brain

    Energy Technology Data Exchange (ETDEWEB)

    Glenn, Orit A. [University of California, San Francisco, Department of Radiology, Neuroradiology Section, San Francisco, CA (United States)

    2010-01-15

    Fetal MRI is clinically performed to evaluate the brain in cases where an abnormality is detected by prenatal sonography. These most commonly include ventriculomegaly, abnormalities of the corpus callosum, and abnormalities of the posterior fossa. Fetal MRI is also increasingly performed to evaluate fetuses who have normal brain findings on prenatal sonogram but who are at increased risk for neurodevelopmental abnormalities, such as complicated monochorionic twin pregnancies. This paper will briefly discuss the common clinical conditions imaged by fetal MRI as well as recent advances in fetal MRI research. (orig.)

  12. Data from three prospective longitudinal human cohorts of prenatal marijuana exposure and offspring outcomes from the fetal period through young adulthood

    Directory of Open Access Journals (Sweden)

    Gabrielle L. McLemore

    2016-12-01

    Full Text Available This article includes data from three prospective longitudinal human cohorts of prenatal marijuana exposure (PME and offspring outcomes from the fetal period through young adulthood. The table herein contains an overview of the major adverse effects associated with PME from the following human cohorts: (1 The Ottawa Prenatal Prospective Study (OPPS; (2 The Maternal Health Practices and Child Development Study (MHPCD; and (3 The Generation R Study (Gen R. In the OPPS, fetal gestational age was measured and age-appropriate standardized neuropsychological instruments were used to assess neonatal responses, and infant–child and adolescent–young adult cognitive and behavioral skills. In the MHPCD, birth length and weight, neonatal body length, and infant–child sleep, cognition, and behavioral parameters were measured. In the Gen R, birth weight and growth were measured, as were infant–child attention and aggression. The data in this article are in support of our report entitled “Prenatal Cannabis Exposure - The "First Hit" to the Endocannabinoid System” (K.A. Richardson, A.K. Hester, G.L. McLemore, 2016 [13].

  13. Diagnosis of fetal congenital limb deformities by MRI

    International Nuclear Information System (INIS)

    Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Mao Jianping

    2008-01-01

    Objective: To explore the diagnostic value of MRI on fetal congenital limb deformities. Methods: Sixteen pregnant women, aged from 22 to 40 years (average 29 years) and with gestation from 22 to 39 weeks (average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies. Acquisitions consisted of coronal, sagittal, and axial slices relative to the fetal brain, spine, thorax, abdomen, especially limbs using 2D FIESTA sequences. Prenatal US and MR imaging findings were compared with postnatal diagnoses (4 fetuses) or autopsy (12 pregnant women, 13 fetuses). Postnatal evaluation included US, MR imaging, computed tomography, and physical examination. Results: Of the sixteen pregnant women (15 with a single fetus and 1 with twin fetuses), 17 fetuses were found. Those limb deformities of sixteen pregnant women included congenital both upper extremities amelia (1 case), sirenomelia sequence (1 case), micromelia (5 cases, 1 of which were twins), bilateral clenched hands (2 cases), right polydactyly (1 case), simple right ectrodactyly (1 case), right dactylolysis(1 case), simple club foot (2 cases), hydrocele spinalis with club foot (2 cases), 1 of the 2 cases with bilateral clinodactyly. In 14 of 16 cases, the diagnoses established by MR imaging were correct when compared with postnatal diagnosis, and prenatal MR diagnosis was inaccurate in 2 cases. Conclusion: Prenatal MRI is effective in the assessment of congenital limb deformities of fetuses, it can yield information additional to that obtained with US, and further correct US diagnosis. (authors)

  14. Prenatal Diagnosis of a Segmental Small Bowel Volvulus with Threatened Premature Labor

    Directory of Open Access Journals (Sweden)

    Barbara Monard

    2017-01-01

    Full Text Available Fetal primary small bowel volvulus is extremely rare but represents a serious life-threatening condition needing emergency neonatal surgical management to avoid severe digestive consequences. We report a case of primary small bowel volvulus with meconium peritonitis prenatally diagnosed at 27 weeks and 4 days of gestation during threatened premature labor with reduced fetal movements. Ultrasound showed a small bowel mildly dilated with thickened and hyperechogenic intestinal wall, with a typical whirlpool configuration. Normal fetal development allowed continuation of pregnancy with ultrasound follow-up. Induction of labor was decided at 37 weeks and 2 days of gestation because of a significant aggravation of intestinal dilatation appearing more extensive with peritoneal calcifications leading to the suspicion of meconium peritonitis, associated with reduced fetal movements and reduced fetal heart rate variability, for neonatal surgical management with a good outcome.

  15. Prenatal Diagnosis of a Segmental Small Bowel Volvulus with Threatened Premature Labor

    Science.gov (United States)

    Mottet, Nicolas; Ramanah, Rajeev; Riethmuller, Didier

    2017-01-01

    Fetal primary small bowel volvulus is extremely rare but represents a serious life-threatening condition needing emergency neonatal surgical management to avoid severe digestive consequences. We report a case of primary small bowel volvulus with meconium peritonitis prenatally diagnosed at 27 weeks and 4 days of gestation during threatened premature labor with reduced fetal movements. Ultrasound showed a small bowel mildly dilated with thickened and hyperechogenic intestinal wall, with a typical whirlpool configuration. Normal fetal development allowed continuation of pregnancy with ultrasound follow-up. Induction of labor was decided at 37 weeks and 2 days of gestation because of a significant aggravation of intestinal dilatation appearing more extensive with peritoneal calcifications leading to the suspicion of meconium peritonitis, associated with reduced fetal movements and reduced fetal heart rate variability, for neonatal surgical management with a good outcome. PMID:29230337

  16. Maternal L-glutamine supplementation prevents prenatal alcohol exposure-induced fetal growth restriction in an ovine model.

    Science.gov (United States)

    Sawant, Onkar B; Wu, Guoyao; Washburn, Shannon E

    2015-06-01

    Prenatal alcohol exposure is known to cause fetal growth restriction and disturbances in amino acid bioavailability. Alterations in these parameters can persist into adulthood and low birth weight can lead to altered fetal programming. Glutamine has been associated with the synthesis of other amino acids, an increase in protein synthesis and it is used clinically as a nutrient supplement for low birth weight infants. The aim of this study was to explore the effect of repeated maternal alcohol exposure and L-glutamine supplementation on fetal growth and amino acid bioavailability during the third trimester-equivalent period in an ovine model. Pregnant sheep were randomly assigned to four groups, saline control, alcohol (1.75-2.5 g/kg), glutamine (100 mg/kg, three times daily) or alcohol + glutamine. In this study, a weekend binge drinking model was followed where treatment was done 3 days per week in succession from gestational day (GD) 109-132 (normal term ~147). Maternal alcohol exposure significantly reduced fetal body weight, height, length, thoracic girth and brain weight, and resulted in decreased amino acid bioavailability in fetal plasma and placental fluids. Maternal glutamine supplementation successfully mitigated alcohol-induced fetal growth restriction and improved the bioavailability of glutamine and glutamine-related amino acids such as glycine, arginine, and asparagine in the fetal compartment. All together, these findings show that L-glutamine supplementation enhances amino acid availability in the fetus and prevents alcohol-induced fetal growth restriction.

  17. Ovarian cysts on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schöpf, Veronika; Graham, John M.; Rimoin, David L.; Weber, Michael; Prayer, Daniela

    2012-01-01

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23–37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  18. Ovarian cysts on prenatal MRI

    Energy Technology Data Exchange (ETDEWEB)

    Nemec, Ursula [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Nemec, Stefan F., E-mail: stefan.nemec@meduniwien.ac.at [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Bettelheim, Dieter [Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Brugger, Peter C. [Center of Anatomy and Cell Biology, Integrative Morphology Group, Medical University Vienna, Waehringerstrasse 13, A-1090 Vienna (Austria); Horcher, Ernst [Department of Pediatric Surgery, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Schoepf, Veronika [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria); Graham, John M.; Rimoin, David L. [Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048 (United States); Weber, Michael; Prayer, Daniela [Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Waehringer Guertel 18-20, A-1090 Vienna (Austria)

    2012-08-15

    Objective: Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ovarian cysts on prenatal MRI. Materials and methods: This retrospective study included 17 fetal MRI scans from 16 female fetuses (23-37 gestational weeks) with an MRI diagnosis of ovarian cysts after suspicious US findings. A multiplanar MRI protocol was applied to image and to characterize the cysts. The US and MRI findings were compared, and the prenatal findings were compared with postnatal imaging findings or histopathology. Results: Simple ovarian cysts were found in 10/16 cases and complex cysts in 7/16 cases, including one case with both. In 11/16 (69%) cases, US and MRI diagnoses were in agreement, and, in 5/16 (31%) cases, MRI specified or expanded the US diagnosis. In 6/16 cases, postnatal US showed that the cysts spontaneously resolved or decreased in size, and in 1/16 cases, postnatal imaging confirmed a hemorrhagic cyst. In 4/16 cases, the prenatal diagnoses were confirmed by surgery/histopathology, and for the rest, postnatal correlation was not available. Conclusion: Our results illustrate the MRI visualization of ovarian cysts in utero. In most cases, MRI will confirm the US diagnosis. In certain cases, MRI may provide further diagnostic information, additional to US, which is the standard technique for diagnosis, monitoring, and treatment planning.

  19. Value of fetal skeletal radiographs in the diagnosis of fetal death

    International Nuclear Information System (INIS)

    Bourliere-Najean, B.; Russel, A.S.; Petit, P.; Devred, P.; Panuel, M.; Piercecchi-Marti, M.D.; Fredouille, C.; Sigaudy, S.; Philip, N.

    2003-01-01

    The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling. (orig.)

  20. Value of fetal skeletal radiographs in the diagnosis of fetal death

    Energy Technology Data Exchange (ETDEWEB)

    Bourliere-Najean, B.; Russel, A.S.; Petit, P.; Devred, P. [Department of Pediatric Radiology, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France); Panuel, M. [Department of Radiology, Hopital Nord, chemin Bourrelys, 13915 Marseille cedex 20 (France); Piercecchi-Marti, M.D.; Fredouille, C. [Department of Pathology, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France); Sigaudy, S.; Philip, N. [Department of Genetics, CHU Timone, 264 rue St. Pierre, 13385 Marseille cedex 5 (France)

    2003-05-01

    The aim of this study was to assess the value of fetal skeletal radiographs in determining the etiology of fetal death. A total of 1193 post-mortem fetal skeletal radiographs were analysed. Fetuses were classified into one of three groups (group I: abnormality diagnosed during pregnancy; group II: maternal pathology; group III: spontaneous abortion of pregnancy, IIIa before 26 weeks of gestation (WG), IIIb after 26 weeks of gestation). Face, supine and lateral skeletal views were performed. Skeletal abnormalities were detected in 33.9% of the fetuses, including 22.7% with minor abnormalities (abnormal rib number, no nasal bone ossification, amesophalangia or P2 hypoplasia of the fifth digit) and 14.5% with major abnormalities (other skeletal abnormalities). Among the fetuses with major abnormalities, 98.8% came from group I, 2.9% came from group II, 2.3% came from group IIIa and none came from group IIIb. Fetal skeletal radiographs are not useful in fetuses arising from spontaneous abortion of pregnancy without abnormality on ultrasound screening, abnormality clinical examination or in fetuses with prenatal diagnosis of chromosomal abnormality. This practice is valuable only if there is a multidisciplinary team, with all the participants (pathologists, radiologists, geneticists) knowledgeable about fetal pathology. In the absence of this multidisciplinary approach, it is easier to X-ray all fetuses to avoid misdiagnosis and the important consequences for genetic counselling. (orig.)

  1. Non invasive prenatal diagnosis: analysis of circulating fetal DNA and cells in maternal blood El diagnóstico prenatal no invasor: análisis de células y ADN fetal circulantes en la sangre materna

    Directory of Open Access Journals (Sweden)

    Diana Cecilia Jaramillo Posada

    2009-11-01

    Full Text Available

    Prenatal non invasive diagnosis by means of analyses of foetal DNA or cells circulating in maternal blood is one of the most promising areas of obstetrics. Among maternal diseases that could be diagnosed by these methods, or whose behaviour could be predicted, are preeclampsia, growth restriction and preterm labour. Some foetal conditions that could be detected are sex, chromosomal anomalies and single-gene defects. However, these are complex and expensive techniques that are not regularly performed in health care institutions. With this review we intend to provide the readers with up to date information on the main techniques available for the study of circulating foetal cells and DNA, and on their possible clinical applications. The review was based on a search for journals indexed up to 2008 in Pubmed, Scielo and Latindex. Especially relevant articles were chosen by the authors.

    El diagnóstico prenatal temprano y no invasor por medio del análisis de células o ADN fetales circulantes en la sangre materna es un área prometedora de la obstetricia moderna. Entre las enfermedades que se pueden diagnosticar o cuyo comportamiento es posible predecir por estos métodos se encuentran la preeclampsia, la restricción del crecimiento intrauterino y el parto pretérmino. Algunas condiciones fetales que podrían detectarse son el sexo, ciertas anomalías cromosómicas y los defectos de un solo gen. Sin

  2. Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report.

    Science.gov (United States)

    Nori, Madhavi; Prasad, Raghavendra G; Reddy, Arvind K; Cheguri, Sandeep Reddy

    2016-06-01

    Sirenomelia is a social curiosity, a medical and diagnostic challenge prenatally compounded by varied diagnostic difficulties. Prenatal diagnosis of sirenomelia was and continues to be a challenge although von klippel et al., described a case at 10 weeks of gestational age. However, they needed a second imaging at 12(th) week for confirmation. First trimester or early second trimester anatomic survey on ultrasound and MRI is accurate for the diagnosis thereby avoiding unnecessary complex pregnancy. We report a case of second trimester diagnosed sirenomelia, with detailed analysis of image findings on ultrasound and fetal MRI.

  3. Fetal Alcohol Exposure

    Science.gov (United States)

    ... categories: 4 » Fetal Alcohol Syndrome (FAS) » Partial FAS (pFAS) » Alcohol-Related Neurodevelopmental Disorder (ARND) » Alcohol-Related Birth ... either prenatally, after birth, or both Partial FAS (pFAS) Partial FAS (pFAS) involves prenatal alcohol exposure, and ...

  4. Fetal Kidney Anomalies: Next Generation Sequencing

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Sunde, Lone; Nielsen, Marlene Louise

    Aim and Introduction Identification of abnormal kidneys in the fetus may lead to termination of the pregnancy and raises questions about the underlying cause and recurrence risk in future pregnancies. In this study, we investigate the effectiveness of targeted next generation sequencing in fetuses...... with prenatally detected kidney anomalies in order to uncover genetic explanations and assess recurrence risk. Also, we aim to study the relation between genetic findings and post mortem kidney histology. Methods The study comprises fetuses diagnosed prenatally with bilateral kidney anomalies that have undergone...... postmortem examination. The approximately 110 genes included in the targeted panel were chosen on the basis of their potential involvement in embryonic kidney development, cystic kidney disease, or the renin-angiotensin system. DNA was extracted from fetal tissue samples or cultured chorion villus cells...

  5. Fatal tumors: prenatal ultrasonographic findings and clinical characteristics

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Lee, Young Ho

    2014-01-01

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment.

  6. Fatal tumors: prenatal ultrasonographic findings and clinical characteristics

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon [Dept. of Radiology, Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2014-12-15

    The incidence of fetal tumors has been increased due to generalization of prenatal evaluation and improvement of imaging techniques. The early detection of a fetal tumor and understanding of its imaging features are very important for fetal, maternal, and neonatal care. Ultrasonography is usually used for the detection and differential diagnosis of fetal tumors, and magnetic resonance imaging is increasingly being used as a complementary study. Many fetal tumors have different clinical and imaging features compared with pediatric tumors. Although several fetal tumors may mimic other common anomalies, some specific imaging features may carry early accurate diagnosis of fetal tumors, which may alter the prenatal management of a pregnancy and the mode of delivery, and facilitate immediate postnatal treatment.

  7. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder.

    Science.gov (United States)

    Hadjkacem, Imen; Ayadi, Héla; Turki, Mariem; Yaich, Sourour; Khemekhem, Khaoula; Walha, Adel; Cherif, Leila; Moalla, Yousr; Ghribi, Farhat

    To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD) by comparing them to their siblings without autistic disorders. The present study is cross sectional and comparative. It was conducted over a period of three months (July-September 2014). It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS. Our study revealed a higher prevalence of prenatal, perinatal and postnatal factors in children with ASD in comparison with unaffected siblings. It showed also a significant association between perinatal and postnatal factors and ASD (respectively p=0.03 and p=0.042). In this group, perinatal factors were mainly as type of suffering acute fetal (26% of cases), long duration of delivery and prematurity (18% of cases for each factor), while postnatal factors were represented principally by respiratory infections (24%). As for parental factors, no correlation was found between advanced age of parents at the moment of the conception and ASD. Likewise, no correlation was observed between the severity of ASD and different factors. After logistic regression, the risk factors retained for autism in the final model were: male gender, prenatal urinary tract infection, acute fetal distress, difficult labor and respiratory infection. The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others), as determinant variables for the genesis of ASD. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  8. Prenatal sonographic diagnosis of diastrophic dwarfism.

    Science.gov (United States)

    Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

    2002-02-01

    A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

  9. Prenatal natural history of isolated fetal mild bilateral pyelectasis

    Directory of Open Access Journals (Sweden)

    Gustavo de Paula Pereira

    Full Text Available OBJECTIVE: To analyze the prenatal outcomes in a cohort of fetuses with mild bilateral pyelectasis and determine whether performing serial ultrasounds is a good follow-up strategy. METHODS: A prospective longitudinal study was conducted on 62 fetuses with mild bilateral pyelectasis. Fetal mild bilateral pyelectasis was considered when the renal pelvis measured (in millimeters ≥5.0 to 10.0, ≥7.0 to 10.0, and ≥10.0 to 15 at ≤23 weeks 6 days, 24 to 31 weeks 6 days, and ≥32 weeks, respectively, with no uretero-calyceal dilatation. Ultrasounds were performed every 3 weeks to assess whether the mild bilateral pyelectasis regressed, remained unchanged (Group 1 or progressed (Group 2. RESULTS: Group 1 consisted of 53 fetuses (85.4%, and progression was observed in 9 cases (Group 2, 14.6%. The initial renal pelvis diameter was significantly larger in fetuses with progression (p=0.028. Statistically significant differences in the renal pelvis diameter were also found at weeks 31 and 35 for both kidneys (p<0.05. The cases requiring intrauterine procedures or early delivery were not observed. CONCLUSION: Fetal mild bilateral pyelectasis with no calyceal dilatation is a benign condition that can be managed in the postnatal period. The initial renal pelvis diameter and the diameter in week 31 or 35 were valuable parameters for identifying cases that would eventually need specific postnatal procedures.

  10. [Recent advances in prenatal diagnostics].

    Science.gov (United States)

    Lapaire, O; Holzgreve, W; Miny, P; Hösli, I; Hahn, S; Tercanli, S

    2006-11-01

    During the last years, technical improvements have increased the possibilities in prenatal ultrasound. During the eighties and nineties, fetal malformations were increasingly detected and specified. Since a few years, the measurement of the fetal nuchal translucency between 11 and 14 weeks of gestation has been implemented to calculate the individual risk, in combination with most recent biochemical markers. Today, the sonographic measurement of the nuchal translucency is regarded as a valuable screening tool for chromosomal anomalies in prenatal medicine. Beside standardized examinations, a profound information and counseling of the pregnant women should be emphasized. With the improvement of the specific maternal risk calculation, using the sonographic measurement of the nuchal translucency, the biochemical markers and the maternal age, unnecessary invasive examinations may be prevented and their overall number can significantly be reduced. The same trend is seen in the whole field of prenatal medicine, illustrated by the detection of the fetal rhesus D status from the maternal blood and the use of Doppler ultrasound in the management of fetal anemia.

  11. Spreading the Clinical Window for Diagnosing Fetal-Onset Hypogonadism in Boys

    Science.gov (United States)

    Grinspon, Romina P.; Loreti, Nazareth; Braslavsky, Débora; Valeri, Clara; Schteingart, Helena; Ballerini, María Gabriela; Bedecarrás, Patricia; Ambao, Verónica; Gottlieb, Silvia; Ropelato, María Gabriela; Bergadá, Ignacio; Campo, Stella M.; Rey, Rodolfo A.

    2014-01-01

    In early fetal development, the testis secretes – independent of pituitary gonadotropins – androgens and anti-Müllerian hormone (AMH) that are essential for male sex differentiation. In the second half of fetal life, the hypothalamic–pituitary axis gains control of testicular hormone secretion. Follicle-stimulating hormone (FSH) controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas luteinizing hormone (LH) regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset, whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic–pituitary–gonadal axis in male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3–6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic–pituitary–testicular axis in boys suspected of fetal-onset hypogonadism. PMID:24847309

  12. Spreading the clinical window for diagnosing fetal-onset hypogonadism in boys

    Directory of Open Access Journals (Sweden)

    Rodolfo eRey

    2014-05-01

    Full Text Available In early fetal development, the testis secretes –independently of pituitary gonadotropins– androgens and anti-Müllerian hormone (AMH which are essential for male sex differentiation. In the second half of fetal life, the hypothalamic-pituitary axis gains control of testicular hormone secretion. FSH controls Sertoli cell proliferation, responsible for testis volume increase and AMH and inhibin B secretion, whereas LH regulates Leydig cell androgen and INSL3 secretion, involved in the growth and trophism of male external genitalia and in testis descent. This differential regulation of testicular function between early and late fetal periods underlies the distinct clinical presentations of fetal-onset hypogonadism in the newborn male: primary hypogonadism results in ambiguous or female genitalia when early fetal-onset whereas it becomes clinically undistinguishable from central hypogonadism when established later in fetal life. The assessment of the hypothalamic-pituitary-gonadal axis in the male has classically relied on the measurement of gonadotropin and testosterone levels in serum. These hormone levels normally decline 3-6 months after birth, thus constraining the clinical evaluation window for diagnosing male hypogonadism. The advent of new markers of gonadal function has spread this clinical window beyond the first 6 months of life. In this review, we discuss the advantages and limitations of old and new markers used for the functional assessment of the hypothalamic-pituitary-testicular axis in boys suspected of fetal-onset hypogonadism.

  13. Early Detection of Fetal Malformation, a Long Distance Yet to Cover! Present Status and Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Malformation in a Developing Country: Experience at a Tertiary Care Centre in India

    Directory of Open Access Journals (Sweden)

    Namrata Kashyap

    2015-01-01

    Full Text Available Background. Early detection of malformation is tremendously improved with improvement in imaging technology. Yet in a developing country like India majority of pregnant women are not privileged to get timely diagnosis. Aims and Objectives. To assess the present status and potential of first trimester ultrasonography in detection of fetal congenital structural malformations. Methodology. This was a retrospective observational study conducted at Sanjay Gandhi Postgraduate Institute of Medical Sciences. All pregnant women had anomaly scan and women with fetal structural malformations were included. Results. Out of 4080 pregnant women undergoing ultrasound, 312 (7.6% had fetal structural malformation. Out of 139 patients who were diagnosed after 20 weeks, 47 (33.8% had fetal structural anomalies which could have been diagnosed before 12 weeks and 92 (66.1% had fetal malformations which could have been diagnosed between 12 and 20 weeks. Conclusion. The first trimester ultrasonography could have identified 50% of major structural defects compared to 1.6% in the present scenario. This focuses on the immense need of the hour to gear up for early diagnosis and timely intervention in the field of prenatal detection of congenital malformation.

  14. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

    International Nuclear Information System (INIS)

    Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M.; Schoubroeck, D.Van; Witters, I.; Deprest, J.; Vanhole, C.; Casaer, P.

    2003-01-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

  15. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

    2003-07-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

  16. Prenatal Centrifugation: A Mode1 for Fetal Programming of Body Weight?

    Science.gov (United States)

    Baer, Lisa A.; Rushing, Linda; Wade, Charles E.; Ronca, April E.

    2005-01-01

    'Fetal programming' is a newly emerging field that is revealing astounding insights into the prenatal origins of adult disease, including metabolic, endocrine, and cardiovascular pathophysiology. In the present study, we tested the hypothesis that rat pups conceived, gestated and born at 2-g have significantly reduced birth weights and increased adult body weights as compared to 1-g controls. Offspring were produced by mating young adult male and female rats that were adapted to 2-g centrifugation. Female rats underwent conception, pregnancy and birth at 2-g. Newborn pups in the 2-g condition were removed from the centrifuge and fostered to non-manipulated, newly parturient dams maintained at 1 -g. Comparisons were made with 1-g stationary controls, also crossfostered at birth. As compared to 1-g controls, birth weights of pups gestated and born at 2-g were significantly reduced. Pup body weights were significantly reduced until Postnatal day (P) 12. Beginning on P63, body weights of 2-g-gestated offspring exceeded those of 1-g controls by 7-10%. Thus, prenatal rearing at 2-g restricts neonatal growth and increases adult body weight. Collectively, these data support the hypothesis that 2-g centrifugation alters the intrauterine milieu, thereby inducing persistent changes in adult phenotype.

  17. Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Sunde, Lone; Andersen, René F

    2017-01-01

    AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of foetuses diagnosed with parenchymal kidney anomalies...... between 2007 and 2012 had previously been identified. These were compared with foetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age. Cumulative incidences of UTIs were...... computed. Mortality was estimated using the Kaplan-Meier method. RESULTS: We identified 412 foetuses with parenchymal kidney anomalies out of 362 069 who underwent ultrasound scans and 277 were born alive. The overall risk of a UTI before the age of two years was 19%, and it was 14% among infants without...

  18. Hidronefrosis prenatal en doble sistema excretor Prenatal hydronephrosis in double excretory system

    Directory of Open Access Journals (Sweden)

    Sandalio Durán Álvarez

    2007-12-01

    Full Text Available Con la introducción del ultrasonido materno-fetal en el seguimiento sistemático del embarazo normal se detectan anomalías congénitas en el 1 % de los fetos, el 20 % de las cuales corresponden al tracto urinario. Se realizó el estudio de recién nacidos y lactantes con hidronefrosis prenatal, cuyos ultrasonidos materno-fetales demostraron la presencia de un doble sistema excretor. Para este propósito todos los recién nacidos y lactantes con hidronefrosis detectada prenatalmente, y doble sistema excretor diagnosticado antes o después del nacimiento, fueron seguidos mediante ultrasonografía renal evolutiva, uretrocistografía miccional, gammagrafía estática o dinámica y, en algunos casos, mediante urograma excretor. Hallamos doble sistema excretor en 7 de los 182 pacientes (3,8 % con anormalidades del tracto urinario diagnosticadas antes del nacimiento. El diagnóstico fue prenatal solo en uno de los fetos (31 semanas de embarazo. La dilatación hidronefrótica fue ligera en dos fetos y grave en cinco. La hidronefrosis obedeció a diferentes causas. Se realizó nefrectomía polar superior en los casos de ectopia ureteral y de uréter superior obstruido, reimplantación en un ureterocele, y en otro se comprobó la ruptura espontánea mediante endoscopia. Los restantes pacientes se trataron sintomáticamente. La hidronefrosis detectada antes del nacimiento mediante ultrasonografía materno-fetal puede estar asociada a un doble sistema excretor. La dilatación hidronefrótica asociada a un doble sistema puede deberse a diferentes causas, y es necesario estudiar cuidadosa y sistemáticamente a estos niños y tratarlos adecuadamente, porque cada uno puede necesitar una conducta diferente.With the introduction of the maternofetal ultrasound in the systematic follow-up of normal pregnancy, congenital anomalies are detected in 1 % of the fetuses, 20 % of which correspond to the urinary tract. The newborns and infants with prenatal

  19. Value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus.

    Science.gov (United States)

    Liao, Huifang; Cai, Ailu; Wang, Bing; Wang, Xiaoguang; Yan, Zhen; Li, Jingyu

    2012-07-01

    The purpose of this study was to evaluate the value of the fetal plantar shape in prenatal diagnosis of talipes equinovarus. A case-control study was conducted between September 2009 and February 2011. We measured the width and length of 249 feet (156 fetuses) included in this study and then calculated the width to length ratio. All of the fetuses were followed to obtain the pregnancy outcomes and confirm whether the deformity existed; then the bimalleolar angle of each foot with talipes equinovarus was measured. Independent samples t tests were performed to compare the foot width, length, and width to length ratio between normal and talipes equinovarus groups. We also assessed the correlation between the width to length ratio and bimalleolar angle in the talipes equinovarus cases with the Pearson correlation coefficient. Statistically significant differences were shown between the two groups (Pshape can provide valuable information for prenatal diagnosis of clubfoot. Compared with a normal foot, a clubfoot tends to be wider and shorter. A higher width to length ratio is associated with a smaller bimalleolar angle and indicates a more severe talipes equinovarus deformity.

  20. MRI imaging of fetal neck masses with airway compromise: utility in delivery planning

    Energy Technology Data Exchange (ETDEWEB)

    Kathary, N.; Bulas, D.I. [Dept. of Radiology, Children' s National Medical Center, Washington, DC (United States); Newman, K.D. [Dept. of Surgery, Children' s National Medical Center, Washington, DC (United States); Schonberg, R.L. [Dept. of Medical Genetics, Children' s National Medical Center, Washington, DC (United States)

    2001-10-01

    We present two cases of fetal neck masses that were initially diagnosed by ultrasound and further evaluated with prenatal MRI. MRI findings aided in further delineating the neck masses, increasing confidence in the final diagnosis (cervical teratoma and cystic hygroma). With the fetal airway typically filled with fluid that is of high signal on T2-weighted sequences, MRI images in three planes could identify whether the fetal larynx and trachea were partially or completely compressed by the neck tumor. This information was particularly useful in determining if a controlled delivery such as ex utero intrapartum treatment (EXIT) was necessary and aided the surgeons in planning their approach to establishing airway control in the delivery room. (orig.)

  1. MRI imaging of fetal neck masses with airway compromise: utility in delivery planning

    International Nuclear Information System (INIS)

    Kathary, N.; Bulas, D.I.; Newman, K.D.; Schonberg, R.L.

    2001-01-01

    We present two cases of fetal neck masses that were initially diagnosed by ultrasound and further evaluated with prenatal MRI. MRI findings aided in further delineating the neck masses, increasing confidence in the final diagnosis (cervical teratoma and cystic hygroma). With the fetal airway typically filled with fluid that is of high signal on T2-weighted sequences, MRI images in three planes could identify whether the fetal larynx and trachea were partially or completely compressed by the neck tumor. This information was particularly useful in determining if a controlled delivery such as ex utero intrapartum treatment (EXIT) was necessary and aided the surgeons in planning their approach to establishing airway control in the delivery room. (orig.)

  2. Diagnosis, treatment and long-term outcome in fetal hydrocephalus

    International Nuclear Information System (INIS)

    Yamasaki, Mami; Nonaka, Masahiro; Bamba, Yohei; Teramoto, Chika; Ban, Chiaki; Pooh, Ritsuko

    2011-01-01

    The objective of this study was to evaluate the method of prenatally estimating an appropriate clinical outcome in fetal hydrocephalus. Retrospective study, single institute (Osaka National Hospital). Hundred and seventeen cases with fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2010 were analysed. Of the 117 cases analysed, 38% are diagnosed as isolated ventriculomegaly (IVM), 51% as other types of malformation (30 cases of myelomeningocele, 4 cases of holoprosencephaly, 4 of Dandy Walker syndrome, 10 of arachnoid cyst and 6 of encephalocele etc.) and 11% as secondary hydrocephalus. They are diagnosed between 17 and 40 weeks of gestation (average 27 weeks), 17% diagnosed between 17 and 21 weeks, 30% between 22 and 27 weeks and 53% after 28 weeks. With the exception of 9 aborted cases and 30 unknown cases too young to be evaluated or lost due to lack of follow-up, final outcome was analyzed in 78 cases. Of these 78 cases, 15% died in utero or after birth, 23% showed severe retardation, 17% moderate retardation, 26% mild retardation, and 19% showed good outcome. Long term consequences were mostly influenced by basic disease and accompanied anomalies. Hydrocephalus associated with arachnoid cyst, atresia of Monro, corpus callosum agenesis and hydrocephalus due to fetal intracranial hemorrhage are categorized in the good outcome group. On the other hand, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus and hydrocephalus due to fetal virus infection are categorized in the poor outcome group. In order to accurate diagnosis and proper counseling, establishment of diagnosis protocol and treatment policy for fetal hydrocephalus including not only fetal sonography, fetal MRI, toxoplasma, rubella, cytomegalovirus, herpes simplex (TORCH) screening test but also chromosomal and gene testing is required. (author)

  3. [Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

    Science.gov (United States)

    Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

    2015-04-01

    For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

  4. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

    Directory of Open Access Journals (Sweden)

    Forum T. Shah

    2014-07-01

    Full Text Available Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively. Women with positive California Prenatal Screening Program (CPSP results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff- DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease.

  5. Fetal MR imaging of Kniest dysplasia

    International Nuclear Information System (INIS)

    Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

    2010-01-01

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  6. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

    2010-03-15

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  7. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.

    Science.gov (United States)

    Guven, M A; Uzel, M; Ceylaner, S; Coskun, A; Ceylaner, G; Gungoren, A

    2008-01-01

    We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.

  8. Prenatal exposure to a novel antipsychotic quetiapine: impact on neuro-architecture, apoptotic neurodegeneration in fetal hippocampus and cognitive impairment in young rats.

    Science.gov (United States)

    Singh, K P; Tripathi, Nidhi

    2015-05-01

    Reports on prenatal exposure to some of the first generation antipsychotic drugs like, haloperidol, their effects on fetal neurotoxicity and functional impairments in the offspring, are well documented. But studies on in utero exposure to second generation antipsychotics, especially quetiapine, and its effects on fetal neurotoxicity, apoptotic neurodegeneration, postnatal developmental delay and neurobehavioral consequences are lacking. Therefore, the present study was undertaken to evaluate the effect of prenatal administration to equivalent therapeutic doses of quetiapine on neuro-architectural abnormalities, neurohistopathological changes, apoptotic neurodegeneration in fetal hippocampus, and postnatal development and growth as well as its long-lasting imprint on cognitive impairment in young-adult offspring. Pregnant Wistar rats (n=24) were exposed to selected doses (55 mg, 80 mg and 100mg/kg) of quetiapine, equivalent to human therapeutic doses, from gestation day 6 to 21 orally with control subjects. Half of the pregnant subjects of each group were sacrificed at gestation day 21 for histopathological, confocal and electron microscopic studies and rest of the dams were allowed to deliver naturally. Their pups were reared postnatally up to 10 weeks of age for neurobehavioral observations. In quetiapine treated groups, there was significant alterations in total and differential thickness of three typical layers of hippocampus associated with neuronal cells deficit and enhanced apoptotic neurodegeneration in the CA1 area of fetal hippocampus. Prenatally drug treated rat offspring displayed post-natal developmental delay till postnatal day 70, and these young-adult rats displayed cognitive impairment in Morris water maze and passive avoidance regimes as long-lasting impact of the drug. Therefore, quetiapine should be used with cautions considering its developmental neurotoxicological and neurobehavioral potential in animal model, rat. Copyright © 2015 Elsevier

  9. Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone

    2016-01-01

    ObjectivesTo estimate the prevalence of kidney anomalies at second trimester ultrasound screening, and furthermore, to investigate pregnancy outcomes and the pattern of additional malformations. MethodsWe previously identified all women attending second-trimester ultrasound scans in Denmark between...... of non-urinary malformations, comparing the prevalences in infants with and without prenatally diagnosed kidney anomalies. ResultsThe prevalence of fetuses with kidney anomalies at second trimester scans was 11.4 per 10000 fetuses. Among the 412 fetuses identified, 127 pregnancies were terminated....... For live born children the prevalence of additional non-urinary malformations was four times higher (95% CI: 3-5) compared with the prevalence among children without prenatal kidney anomalies. Digestive system anomalies were particularly prevalent. ConclusionThese population-based data provide additional...

  10. Prospective study of fetal hydronephrosis diagnosed by ultrasound- contribution to prevent renal damage in childhood

    International Nuclear Information System (INIS)

    Oliveira, Eduardo A.; Cabral, Antonio Carlos V.; Leite, Henrique V.; Filgueiras, Teresa F.; Oliveira, Raquel B.B.; Vilasboas, Aranai S.; Tiburcio, Arthur E.L.; Diniz, Jose Silveiro S.

    1998-01-01

    Newborns with anomalies of the urinary tract detected by fetal echography were investigated. The purpose was to identify prevalent uropathies, clinical outcome and variables of prognostic significance in patients with fetal hydronephrosis. The patients were investigated by ultrasound, micturating cystourethrography and radionuclide imaging, after beginning of chemoprophylaxis. Renal function and urinary tract infection were also studied. Eight-three patients were included in this study, 54(65,1%) of these were boys. Postnatal predominant diagnosis were pelviureteric junction obstruction (3,3%) and multicytic kidney (15,7%). Follow-up average was 35 ± 2.5 months. Renal function deteriored in 8 children during follow-up. Worse prognosis was associated with prenatal diagnosis before third trimester of gestation, bilateral uropathy, oligohydrammios, abnormal palpable kidney or bladder, abnormal renal function on admission and urethral obstruction. (author)

  11. Prenatal exposure to mercury and longitudinally assessed fetal growth: Relation and effect modifiers.

    Science.gov (United States)

    Ballester, Ferran; Iñiguez, Carmen; Murcia, Mario; Guxens, Mònica; Basterretxea, Mikel; Rebagliato, Marisa; Vioque, Jesús; Lertxundi, Aitana; Fernandez-Somoano, Ana; Tardon, Adonina; Sunyer, Jordi; Llop, Sabrina

    2018-01-01

    Prenatal mercury exposure has been related to reductions in anthropometry at birth. Levels of mercury have been reported as being relatively elevated in the Spanish population. To investigate the relation between prenatal exposure to mercury and fetal growth. Study subjects were pregnant women and their newborns (n:1867) participating in a population-based birth cohort study set up in four Spanish regions from the INMA Project. Biparietal diameter (BPD), femur length (FL), abdominal circumference (AC), and estimated fetal weight (EFW) were measured by ultrasounds at 12, 20, and 34 weeks of gestation. Size at and growth between these points were assessed by standard deviation (SD) scores adjusted for constitutional characteristics. Total mercury (T-Hg) was determined in cord blood. Associations were investigated by linear regression models, adjusted by sociodemographic, environmental, nutritional - including four seafood groups - and lifestyle-related variables in each sub-cohort. Final estimates were obtained using meta-analysis. Effect modification by sex, seafood intake and polychlorinated biphenyl (PCB) congener 153 concentration was assessed. Geometric mean of cord blood T-Hg was 8.2μg/L. All the estimates of the association between prenatal Hg and growth from 0 to 12 weeks showed reductions in SD-scores, which were only statistically significant for BPD. A doubling of cord blood T-Hg was associated with a 0.58% reduction in size of BPD at week 12 (95% confidence interval -CI-: - 1.10, - 0.07). Size at week 34 showed estimates suggestive of a small reduction in EFW, i.e., a doubling of T-Hg levels was associated with a reduction of 0.38% (95% CI: - 0.91, 0.15). An interaction between PCB153 and T-Hg was found, with statistically significant negative associations of T-Hg with AC and EFW in late pregnancy among participants with PCB153 below the median. Exposure to mercury during pregnancy was associated with early reductions in BPD. Moreover, an antagonism with

  12. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination : An analysis of 709,030 births in 12 European countries

    NARCIS (Netherlands)

    Wiesel, A.; Queisser-Luft, A.; Clementi, M.; Bianca, S.; Stoll, C.; de Walle, H.E.K.

    2005-01-01

    The study was performed to evaluate the prevalence of prenatal ultrasound diagnoses for renal anomalies in 20 registries of 12 European countries, and to compare the different prenatal scanning policies. Standardized data were acquired from 709,030 livebirths, stillbirths, and induced abortions

  13. Prenatal diagnosis of horseshoe lung and esophageal atresia

    International Nuclear Information System (INIS)

    Goldberg, Shlomit; Ringertz, Hans; Barth, Richard A.

    2006-01-01

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  14. Prenatal diagnosis of horseshoe lung and esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, Shlomit; Ringertz, Hans [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Barth, Richard A. [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Lucile Packard Children' s Hospital, Radiology, Palo Alto, CA (United States)

    2006-09-15

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  15. New trend in non-invasive prenatal diagnosis.

    Science.gov (United States)

    Ferrari, M; Carrera, P; Lampasona, V; Galbiati, S

    2015-12-07

    The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

    Directory of Open Access Journals (Sweden)

    Florence M Momplaisir

    Full Text Available HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART use during pregnancy and HIV suppression at delivery is required.We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery.Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61 and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00 than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11 and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47 than those with adequate prenatal care.Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  17. Time of HIV Diagnosis and Engagement in Prenatal Care Impact Virologic Outcomes of Pregnant Women with HIV.

    Science.gov (United States)

    Momplaisir, Florence M; Brady, Kathleen A; Fekete, Thomas; Thompson, Dana R; Diez Roux, Ana; Yehia, Baligh R

    2015-01-01

    HIV suppression at parturition is beneficial for maternal, fetal and public health. To eliminate mother-to-child transmission of HIV, an understanding of missed opportunities for antiretroviral therapy (ART) use during pregnancy and HIV suppression at delivery is required. We performed a retrospective analysis of 836 mother-to-child pairs involving 656 HIV-infected women in Philadelphia, 2005-2013. Multivariable regression examined associations between patient (age, race/ethnicity, insurance status, drug use) and clinical factors such as adequacy of prenatal care measured by the Kessner index which classifies prenatal care as inadequate, intermediate, or adequate prenatal care; timing of HIV diagnosis; and the outcomes: receipt of ART during pregnancy and viral suppression at delivery. Overall, 25% of the sample was diagnosed with HIV during pregnancy; 39%, 38%, and 23% were adequately, intermediately, and inadequately engaged in prenatal care. Eight-five percent of mother-to-child pairs received ART during pregnancy but only 52% achieved suppression at delivery. Adjusting for patient factors, pairs diagnosed with HIV during pregnancy were less likely to receive ART (AOR 0.39, 95% CI 0.25-0.61) and achieve viral suppression (AOR 0.70, 95% CI 0.49-1.00) than those diagnosed before pregnancy. Similarly, women with inadequate prenatal care were less likely to receive ART (AOR 0.06, 95% CI 0.03-0.11) and achieve viral suppression (AOR 0.31, 95% CI 0.20-0.47) than those with adequate prenatal care. Targeted interventions to diagnose HIV prior to pregnancy and engage HIV-infected women in prenatal care have the potential to improve HIV related outcomes in the perinatal period.

  18. Prenatal diagnosis of fetal syndromes

    International Nuclear Information System (INIS)

    Murthy, BS Rama

    2008-01-01

    A syndrome is a pattern of multiple anomalies arising due to a single known causative factor. Ultrasonography has enabled us to recognize many fetal anomalies and dysmorphic features. Recognition of the anomaly pattern leads to the diagnosis of a particular syndrome. This enables us to counsel prospective parents and aids in management. We present a selection of fetal syndromes in the form of a pictorial essay

  19. Fetal and neo-natal maxillary ontogeny in extant humans and the utility of prenatal maxillary morphology in predicting ancestral affiliation

    Science.gov (United States)

    Nicholas, Christina L.

    2016-01-01

    Objectives The midface of extant H. sapiens is known to undergo shape changes through fetal and neo-natal ontogeny; however, little work has been done to quantify these shape changes. Further, while midfacial traits which vary in frequency between populations of extant humans are presumed to develop prenatally, patterns of population-specific variation maxillary shape across ontogeny are not well documented. Only one study of fetal ontogeny which included specific discussion of the midface has taken a 3D geometric morphometric approach, and that study was limited to one population (Japanese). The present research project seeks to augment our understanding of fetal maxillary growth patterns, most especially in terms of intraspecific variation. Materials and Methods Three-dimensional coordinate landmark data were collected on the right maxillae of 102 fetal and neo-natal individuals from three groups (Euro-American, African-American, “Mixed Ancestry”). Results Shape changes were seen mainly in the lateral wall of the piriform aperture, the anterior nasal spine, and the subnasal alveolar region. The greatest difference across age groups (2nd Trimester, 3rd Trimester, Neonates) was between the second and third trimester. Euro-Americans and African-Americans clustered by population and differences in midfacial morphology related to ancestry could be discerned as early as the second trimester (p=0.002), indicating that population variation in maxillary morphology appears very early in ontogeny. Discussion The midface is a critical region of the skull for assessing ancestry and these results indicate that maxillary morphology may be useful for estimating ancestry for prenatal individuals as young as the second trimester. PMID:27412693

  20. A prospective study of fetal head growth, autistic traits and autism spectrum disorder

    Science.gov (United States)

    Blanken, Laura M. E.; Dass, Alena; Alvares, Gail; van der Ende, Jan; Schoemaker, Nikita K.; El Marroun, Hanan; Hickey, Martha; Pennell, Craig; White, Scott; Maybery, Murray T.; Dissanayake, Cheryl; Jaddoe, Vincent W. V.; Verhulst, Frank C.; Tiemeier, Henning; McIntosh, Will; Whitehouse, Andrew

    2018-01-01

    Altered trajectories of brain growth are often reported in Autism Spectrum Disorder (ASD), particularly during the first year of life. However, less is known about prenatal head growth trajectories, and no study has examined the relation with postnatal autistic symptom severity. The current study prospectively examined the association between fetal head growth and the spectrum of autistic symptom severity in two large population‐based cohorts, including a sample of individuals with clinically diagnosed ASD. This study included 3,820 children from two longitudinal prenatal cohorts in The Netherlands and Australia, comprising 60 individuals with a confirmed diagnosis of ASD. Latent growth curve models were used to examine the relationship between fetal head circumference measured at three different time points and autistic traits measured in postnatal life using either the Social Responsiveness Scale or the Autism‐Spectrum Quotient. While lower initial prenatal HC was weakly associated with increasing autistic traits in the Dutch cohort, this relationship was not observed in the Australian cohort, nor when the two cohorts were analysed together. No differences in prenatal head growth were found between individuals with ASD and controls. This large population‐based study identified no consistent association across two cohorts between prenatal head growth and postnatal autistic traits. Our mixed findings suggest that further research in this area is needed. Autism Res 2018, 11: 602–612. © 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. Lay Summary It is not known whether different patterns of postnatal brain growth in Autism Spectrum Disorder (ASD) also occurs prenatally. We examined fetal head growth and autistic symptoms in two large groups from The Netherlands and Australia. Lower initial prenatal head circumference was associated with autistic traits in the Dutch, but not the Australian

  1. A prospective study of fetal head growth, autistic traits and autism spectrum disorder.

    Science.gov (United States)

    Blanken, Laura M E; Dass, Alena; Alvares, Gail; van der Ende, Jan; Schoemaker, Nikita K; El Marroun, Hanan; Hickey, Martha; Pennell, Craig; White, Scott; Maybery, Murray T; Dissanayake, Cheryl; Jaddoe, Vincent W V; Verhulst, Frank C; Tiemeier, Henning; McIntosh, Will; White, Tonya; Whitehouse, Andrew

    2018-04-01

    Altered trajectories of brain growth are often reported in Autism Spectrum Disorder (ASD), particularly during the first year of life. However, less is known about prenatal head growth trajectories, and no study has examined the relation with postnatal autistic symptom severity. The current study prospectively examined the association between fetal head growth and the spectrum of autistic symptom severity in two large population-based cohorts, including a sample of individuals with clinically diagnosed ASD. This study included 3,820 children from two longitudinal prenatal cohorts in The Netherlands and Australia, comprising 60 individuals with a confirmed diagnosis of ASD. Latent growth curve models were used to examine the relationship between fetal head circumference measured at three different time points and autistic traits measured in postnatal life using either the Social Responsiveness Scale or the Autism-Spectrum Quotient. While lower initial prenatal HC was weakly associated with increasing autistic traits in the Dutch cohort, this relationship was not observed in the Australian cohort, nor when the two cohorts were analysed together. No differences in prenatal head growth were found between individuals with ASD and controls. This large population-based study identified no consistent association across two cohorts between prenatal head growth and postnatal autistic traits. Our mixed findings suggest that further research in this area is needed. Autism Res 2018, 11: 602-612. © 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. It is not known whether different patterns of postnatal brain growth in Autism Spectrum Disorder (ASD) also occurs prenatally. We examined fetal head growth and autistic symptoms in two large groups from The Netherlands and Australia. Lower initial prenatal head circumference was associated with autistic traits in the Dutch, but not the Australian, group. No differences

  2. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

    Science.gov (United States)

    Badeau, Mylène; Lindsay, Carmen; Blais, Jonatan; Nshimyumukiza, Leon; Takwoingi, Yemisi; Langlois, Sylvie; Légaré, France; Giguère, Yves; Turgeon, Alexis F; Witteman, William; Rousseau, François

    2017-11-10

    Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts. Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Two review authors independently carried out study selection, data extraction and quality assessment (using the QUADAS-2 tool). Where possible, hierarchical models or simpler alternatives were used for meta-analysis. Sixty-five studies of

  3. Promises, pitfalls and practicalities of prenatal whole exome sequencing.

    Science.gov (United States)

    Best, Sunayna; Wou, Karen; Vora, Neeta; Van der Veyver, Ignatia B; Wapner, Ronald; Chitty, Lyn S

    2018-01-01

    Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates. The data suggest that diagnostic yields will be greater in fetuses with multiple anomalies or in cases preselected following genetic review. Beyond its ability to improve diagnostic rates, we explore the potential of WES to improve understanding of prenatal presentations of genetic disorders and lethal fetal syndromes. We discuss prenatal phenotyping limitations, counselling challenges regarding variants of uncertain significance, incidental and secondary findings, and technical problems in WES. We review the practical, ethical, social and economic issues that must be considered before prenatal WES could become part of routine testing. Finally, we reflect upon the potential future of prenatal genetic diagnosis, including a move towards whole genome sequencing and non-invasive whole exome and whole genome testing. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  4. Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

    Science.gov (United States)

    Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

    2017-06-01

    We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

  5. Spontaneous Resolution of a Fetal Dural Sinus Thrombosis: One Case Report and Review of the Literatures

    Directory of Open Access Journals (Sweden)

    Chen Wang

    2012-01-01

    Full Text Available Fetal dural sinus thrombosis is a rare finding. Most cases have been terminated without long-term follow-ups. Recently some reports have indicated the potentially favorable evolution of fetal dural sinus thrombosis. Most of the fetuses showing symptoms have been delivered with normal neurologic outcome. We report a case of fetal dural sinus thrombosis. Serial ultrasound and magnetic resonance images (MRI showed the shrinkage of the thrombosis which indicated good prognosis. No physical or neurological abnormality was observed at 8-months follow-up. Conservative treatment is appropriate to prenatally diagnosed dural sinus thrombosis with favorable prognostic factors. Serial MRI or ultrasound should be taken every 1-2 months to monitor the thrombosis development and fetal well-beings.

  6. Prenatal caffeine exposure induced a lower level of fetal blood leptin mainly via placental mechanism

    International Nuclear Information System (INIS)

    Wu, Yi-meng; Luo, Han-wen; Kou, Hao; Wen, Yin-xian; Shen, Lang; Pei, Ling-guo; Zhou, Jin; Zhang, Yuan-zhen; Wang, Hui

    2015-01-01

    It's known that blood leptin level is reduced in intrauterine growth retardation (IUGR) fetus, and placental leptin is the major source of fetal blood leptin. This study aimed to investigate the decreased fetal blood leptin level by prenatal caffeine exposure (PCE) and its underlying placental mechanisms. Pregnant Wistar rats were intragastrically administered caffeine (30–120 mg/kg day) from gestational day 9 to 20. The level of fetal serum leptin and the expression of placental leptin-related genes were analyzed. Furthermore, we investigated the molecular mechanism of the reduced placental leptin's expression by treatment with caffeine (0.8–20 μM) in the BeWo cells. In vivo, PCE significantly decreased fetal serum leptin level in caffeine dose-dependent manner. Meanwhile, placental mRNA expression of adenosine A2a receptor (Adora2a), cAMP-response element binding protein (CREB), a short-type leptin receptor (Ob-Ra) and leptin was reduced in the PCE groups. In vitro, caffeine significantly decreased the mRNA expression of leptin, CREB and ADORA2A in concentration and time-dependent manners. The addition of ADORA2A agonist or adenylyl cyclase (AC) agonist reversed the inhibition of leptin expression induced by caffeine. PCE induced a lower level of fetal blood leptin, which the primary mechanism is that caffeine inhibited antagonized Adora2a and AC activities to decreased cAMP synthesis, thus inhibited the expression of the transcription factor CREB and target gene leptin in the placenta. Meantime, the reduced transportation of maternal leptin by placental Ob-Ra also contributed to the reduced fetal blood leptin. Together, PCE decreased fetal blood leptin mainly via reducing the expression and transportation of leptin in the placenta. - Highlights: • Caffeine reduced fetal blood leptin level. • Caffeine inhibited placental leptin production and transport. • Caffeine down-regulated placental leptin expression via antagonizing ADORA2.

  7. Prenatal caffeine exposure induced a lower level of fetal blood leptin mainly via placental mechanism

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Yi-meng [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Luo, Han-wen [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Kou, Hao [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Wen, Yin-xian [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Shen, Lang; Pei, Ling-guo; Zhou, Jin [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Zhang, Yuan-zhen [Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China)

    2015-11-15

    It's known that blood leptin level is reduced in intrauterine growth retardation (IUGR) fetus, and placental leptin is the major source of fetal blood leptin. This study aimed to investigate the decreased fetal blood leptin level by prenatal caffeine exposure (PCE) and its underlying placental mechanisms. Pregnant Wistar rats were intragastrically administered caffeine (30–120 mg/kg day) from gestational day 9 to 20. The level of fetal serum leptin and the expression of placental leptin-related genes were analyzed. Furthermore, we investigated the molecular mechanism of the reduced placental leptin's expression by treatment with caffeine (0.8–20 μM) in the BeWo cells. In vivo, PCE significantly decreased fetal serum leptin level in caffeine dose-dependent manner. Meanwhile, placental mRNA expression of adenosine A2a receptor (Adora2a), cAMP-response element binding protein (CREB), a short-type leptin receptor (Ob-Ra) and leptin was reduced in the PCE groups. In vitro, caffeine significantly decreased the mRNA expression of leptin, CREB and ADORA2A in concentration and time-dependent manners. The addition of ADORA2A agonist or adenylyl cyclase (AC) agonist reversed the inhibition of leptin expression induced by caffeine. PCE induced a lower level of fetal blood leptin, which the primary mechanism is that caffeine inhibited antagonized Adora2a and AC activities to decreased cAMP synthesis, thus inhibited the expression of the transcription factor CREB and target gene leptin in the placenta. Meantime, the reduced transportation of maternal leptin by placental Ob-Ra also contributed to the reduced fetal blood leptin. Together, PCE decreased fetal blood leptin mainly via reducing the expression and transportation of leptin in the placenta. - Highlights: • Caffeine reduced fetal blood leptin level. • Caffeine inhibited placental leptin production and transport. • Caffeine down-regulated placental leptin expression via antagonizing ADORA2.

  8. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

    2011-09-15

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  9. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    International Nuclear Information System (INIS)

    Wang Guangbin; Shan Ruiqin; Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan

    2011-01-01

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  10. Magnetic resonance tomography - an additive method complementary to ultrasonographic diagnosis of fetal malformations

    International Nuclear Information System (INIS)

    Bloechle, M.; Bollmann, R.; Zienert, A.; Kalache, K.; Koerner, H.; Tennstedt, C.; Ivanow, S.

    1992-01-01

    A case of prenatal sonographic diagnosis of polycystic renal degeneration is reported in this paper. With oligophydramnion established, the extent of the malformation could not be reliable diagnosed by means of sonography. It was also not possible to determine safely whether both kidneys were affected by malformation or if one possibly intact kidney was superimposed by one with dysplasia. In addition, the urinary bladder could not be sonographically delineated with reliability. Magnetic resonance tomography (MRT) was thus performed as an additional modality to complete the fetal diagnosis. The results thus obtained and the role of MRI in prenatal diagnosis and therapy are discussed. (orig.) [de

  11. Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

    Directory of Open Access Journals (Sweden)

    Gianfranca Damiani

    2014-09-01

    Full Text Available Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

  12. Recommendations for fetal echocardiography in twin pregnancy in 2016

    Directory of Open Access Journals (Sweden)

    Leszczyńska Katarzyna

    2016-01-01

    Full Text Available Progress in the fields of fetal cardiology and fetal surgery have been seen not only in singleton pregnancies but also in multiple pregnancies. Proper interpretation of prenatal echocardiography is critical to clinical decision making, family counseling and perinatal management for obstetricians, maternal fetal medicine specialists, neonatologists and pediatric cardiologists. Fetal echocardiography is one of the most challenging and time-consuming prenatal examinations to perform, especially in multiple gestations. Performing just the basic fetal exam in twin gestations may take an hour or more. Thus, it is not practical to perform this exam in all cases of multiple gestations. Therefore our review and recommendations are related to fetal echocardiography in twin gestation.

  13. A study on maternal-fetal attachment in pregnant women undergoing fetal echocardiography

    Directory of Open Access Journals (Sweden)

    Concetta Polizzi

    2017-03-01

    Full Text Available Purpose: To investigate the possible effects of the fetal echocardiography experience on the prenatal attachment process. The predictive effect of specific women’s psychological variables will be explored as well.Design and methods: This between groups study involved 85 women with pregnancy at risk who underwent the fetal echocardiography, and 83 women who were about to undergo the morphological scan. The tools employed were: the Prenatal Attachment Inventory (P.A.I. to explore the maternal-fetal attachment; the Maternity Social Support Scale to investigate the woman perception of being socially supported during pregnancy; both the Big Five Questionnaire and the FACES III to explore the personality traits of pregnant women and their perception of their couple relationship functioning.Findings: The outcomes of ANOVA do not show statistically significant differences between the two groups of the mothers-to-be with regard to the scores of the P.A.I. (F = .017; p = .897; η2 = .000, while the regression analysis of the possible effect of the maternal psychological variables on the mother-fetus relationship shows a statistically significant result only with regard to the “social support” variable (r2 = .061; df = 80; p = .025.Conclusions: It would seem that the process of the prenatal attachment develops independently whether the woman has to undergo a first level screening or a second level examination such as the fetal echocardiography.

  14. Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings

    International Nuclear Information System (INIS)

    Lee, Soo Hyun; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Han, Byoung Hee; Lee, Young Ho; Cho, Byung Jae; Kim, Seung Hyup

    2002-01-01

    The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article

  15. Prenatal exposure to traffic pollution: associations with reduced fetal growth and rapid infant weight gain.

    Science.gov (United States)

    Fleisch, Abby F; Rifas-Shiman, Sheryl L; Koutrakis, Petros; Schwartz, Joel D; Kloog, Itai; Melly, Steven; Coull, Brent A; Zanobetti, Antonella; Gillman, Matthew W; Gold, Diane R; Oken, Emily

    2015-01-01

    Prenatal air pollution exposure inhibits fetal growth, but implications for postnatal growth are unknown. We assessed weights and lengths of US infants in the Project Viva cohort at birth and 6 months. We estimated 3rd-trimester residential air pollution exposures using spatiotemporal models. We estimated neighborhood traffic density and roadway proximity at birth address using geographic information systems. We performed linear and logistic regression adjusted for sociodemographic variables, fetal growth, and gestational age at birth. Mean birth weight-for-gestational age z-score (fetal growth) was 0.17 (standard deviation [SD] = 0.97; n = 2,114), 0- to 6-month weight-for-length gain was 0.23 z-units (SD = 1.11; n = 689), and 17% had weight-for-length ≥95th percentile at 6 months of age. Infants exposed to the highest (vs. lowest) quartile of neighborhood traffic density had lower fetal growth (-0.13 units [95% confidence interval (CI) = -0.25 to -0.01]), more rapid 0- to 6-month weight-for-length gain (0.25 units [95% CI = 0.01 to 0.49]), and higher odds of weight-for-length ≥95th percentile at 6 months (1.84 [95% CI = 1.11 to 3.05]). Neighborhood traffic density was additionally associated with an infant being in both the lowest quartile of fetal growth and the highest quartile of 0- to 6-month weight-for-length gain (Q4 vs. Q1, odds ratio = 3.01 [95% CI = 1.08 to 8.44]). Roadway proximity and 3rd-trimester black carbon exposure were similarly associated with growth outcomes. For 3rd-trimester particulate matter (PM2.5), effect estimates were in the same direction, but smaller and imprecise. Infants exposed to higher traffic-related pollution in early life may exhibit more rapid postnatal weight gain in addition to reduced fetal growth.

  16. Disruption of Fetal Hormonal Programming (Prenatal Stress) Implicates Shared Risk for Sex Differences in Depression and Cardiovascular Disease

    Science.gov (United States)

    Goldstein, JM; Handa, RJ; Tobet, SA

    2014-01-01

    Comorbidity of major depressive disorder (MDD) and cardiovascular disease (CVD) represents the fourth leading cause of morbidity and mortality worldwide, and women have a two times greater risk than men. Thus understanding the pathophysiology has widespread implications for attenuation and prevention of disease burden. We suggest that sex-dependent MDD-CVD comorbidity may result from alterations in fetal programming consequent to the prenatal maternal environments that produce excess glucocorticoids, which then drive sex-dependent developmental alterations of the fetal hypothalamic-pituitary-adrenal (HPA) axis circuitry impacting mood, stress regulation, autonomic nervous system (ANS), and the vasculature in adulthood. Evidence is consistent with the hypothesis that disruptions of pathways associated with gamma aminobutyric acid (GABA) in neuronal and vascular development and growth factors have critical roles in key developmental periods and adult responses to injury in heart and brain. Understanding the potential fetal origins of these sex differences will contribute to development of novel sex-dependent therapeutics. PMID:24355523

  17. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2014-01-01

    . Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo......-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye...... anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder....

  18. The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.

    Science.gov (United States)

    Benacerraf, Beryl B

    2012-03-01

    Prenatal detection of fetal anomalies is one of the major goals of obstetrical ultrasound. The primary reason is the options that are often offered to the family and caregivers from therapy in selected cases to special care at delivery to termination of the pregnancy. An important aspect of the diagnosis is to determine whether the anomaly is expected to be lethal or associated with severe physical or mental impediments. This goal is often difficult to accomplish without a clear diagnosis. A systematic approach is essential when an abnormality is first identified sonographically to help the practitioner discover certain patterns of associated defects. The use of this logical and stepwise strategy facilitates arriving at the correct diagnosis of specific syndrome by taking all anatomic findings into account. This process focuses on first pinpointing a key or sentinel feature specific to each syndrome and which can anchor the diagnosis.

  19. Effects of prenatal stress on fetal and child development: a critical literature review.

    Science.gov (United States)

    Graignic-Philippe, R; Dayan, J; Chokron, S; Jacquet, A-Y; Tordjman, S

    2014-06-01

    Many studies have examined effects of prenatal stress on pregnancy and fetal development, especially on prematurity and birthweight, and more recently long-term effects on child behavioral and emotional development. These studies are reviewed and their limitations are discussed with regard to definitions (including the concepts of stress and anxiety), stress measurements, samples, and control for confounds such as depression. It appears necessary to assess individual stress reactivity prospectively and separately at each trimester of pregnancy, to discriminate chronic from acute stress, and to take into consideration moderator variables such as past life events, sociocultural factors, predictability, social support and coping strategies. Furthermore, it might be useful to examine simultaneously, during but also after pregnancy, stress, anxiety and depression in order to understand better their relationships and to evaluate their specific effects on pregnancy and child development. Finally, further research could benefit from an integrated psychological and biological approach studying together subjective perceived stress and objective physiological stress responses in pregnant women, and their effects on fetal and child development as well as on mother-infant interactions. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Evaluation of Outcome- Prenatal Diagnosis Indication and Results Suitability in Families Referred to our Laboratory For Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ayşegül Türkyılmaz

    2007-01-01

    Full Text Available Since our aim is to establish the importance, necessity and concept of prenatal diagnosis in our region and supply routine service at a stage which we admit as a transitional period for application, all of the materials of amniocentesis, cordocentesis and corion villi sample referred to laboratories were evaluated without refusal.When we examined prenatal diagnoses of these specimens, we found Down Risk (according to triple test result in 164 specimens (%34, fetal anomaly risk in 122 (%25, advanced age in 69 (%14 poor-obstetric anamnesis in 27(%5, Down Syndrome- infant history in 20 (%4, family request in 17, and habitual abortus (%3 etc. in specimens. Lymphocyte Culture prepared in duplicate for each specimen and chromosome were obtained from total of ten slides for each specimen. Slides were stained with Giemsa Banding Technic (GTG Banding. Total (10x481 4810 slides were evaluated for diagnosis.There were no false positive and false negative results.

  1. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    Science.gov (United States)

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome. © 2014 Japanese Teratology Society.

  2. An Overview on Prenatal Screening for Chromosomal Aberrations.

    Science.gov (United States)

    Hixson, Lucas; Goel, Srishti; Schuber, Paul; Faltas, Vanessa; Lee, Jessica; Narayakkadan, Anjali; Leung, Ho; Osborne, Jim

    2015-10-01

    This article is a review of current and emerging methods used for prenatal detection of chromosomal aneuploidies. Chromosomal anomalies in the developing fetus can occur in any pregnancy and lead to death prior to or shortly after birth or to costly lifelong disabilities. Early detection of fetal chromosomal aneuploidies, an atypical number of certain chromosomes, can help parents evaluate their pregnancy options. Current diagnostic methods include maternal serum sampling or nuchal translucency testing, which are minimally invasive diagnostics, but lack sensitivity and specificity. The gold standard, karyotyping, requires amniocentesis or chorionic villus sampling, which are highly invasive and can cause abortions. In addition, many of these methods have long turnaround times, which can cause anxiety in mothers. Next-generation sequencing of fetal DNA in maternal blood enables minimally invasive, sensitive, and reasonably rapid analysis of fetal chromosomal anomalies and can be of clinical utility to parents. This review covers traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential. © 2015 Society for Laboratory Automation and Screening.

  3. The ultrasonographic diagnosis of fetal encephalocele at 13th gestational week

    Directory of Open Access Journals (Sweden)

    Šorak Marija

    2010-01-01

    Full Text Available Background. Encephalocele presents a rare anomaly of central nervous system, developed as a consequence of neural tube closing defect during early embrional development, and it is described by a baggy formation which prolaborates through the pores of the scull, filled with brain tissue, cerebrospinal liquor and entwined with meninges. According to literature search, until this day, the earliest it can be ultrasonically detected is the 13th gestation week, with the appliance of three-dimensional ultrasound. Case report. We presented 25 years old patient, ultrasonically diagnosed with occipital fetal encephalocela at the 13th gestation week. A gestation sack was located in the right uteral corn of the two-corned uterus with one cervix. The diagnosis was confirmed also by trippled value of alpha-fetoprotein in maternal serum: 75,98 IU/mL. Conclusion. Ultrasonic examination is the method of choice for prenatal detection of a fetal anomaly. It is possible to diagnose encephalocele if it prominates above the limits of the scull.

  4. Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

    Science.gov (United States)

    Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

    2007-07-01

    To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

  5. Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

    Science.gov (United States)

    Gürel, Sebahat Atar

    2015-04-01

    Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  6. Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

    Science.gov (United States)

    Barišić, Lara Spalldi; Stanojević, Milan; Kurjak, Asim; Porović, Selma; Gaber, Ghalia

    2017-08-28

    With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three- and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2nd to the 1st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

  7. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

    Science.gov (United States)

    Chitty, L S; Griffin, D R; Meaney, C; Barrett, A; Khalil, A; Pajkrt, E; Cole, T J

    2011-03-01

    To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in maternal plasma. Data on fetuses with a confirmed diagnosis of achondroplasia were obtained from our databases, records reviewed, sonographic features and measurements determined and charts of fetal size constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies. Cases referred to our regional genetics laboratory for molecular diagnosis using cell-free fetal DNA were identified and results reviewed. Twenty-six cases were scanned in our unit. Fetal size charts showed that femur length was usually on or below the 3(rd) centile by 25 weeks' gestation, and always below the 3(rd) by 30 weeks. Head circumference was above the 50(th) centile, increasing to above the 95(th) when compared with normal for the majority of fetuses. The abdominal circumference was also increased but to a lesser extent. Commonly reported sonographic features were bowing of the femora, frontal bossing, short fingers, a small chest and polyhydramnios. Analysis of cell-free fetal DNA in six pregnancies confirmed the presence of the c.1138G > A mutation in the FGRF3 gene in four cases with achondroplasia, but not the two subsequently found to be growth restricted. These data should improve the accuracy of diagnosis of achondroplasia based on sonographic findings, and have implications for targeted molecular confirmation that can reliably and safely be carried out using cell-free fetal DNA. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

  8. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-01-01

    Abstract To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy. In the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment. PMID:26945416

  9. Fetal bowel anomalies - US and MR assessment

    Energy Technology Data Exchange (ETDEWEB)

    Rubesova, Erika [Stanford University, Department of Radiology, Lucile Packard Children' s Hospital, Stanford, CA (United States)

    2012-01-15

    The technical quality of prenatal US and fetal MRI has significantly improved during the last decade and allows an accurate diagnosis of bowel pathology prenatally. Accurate diagnosis of bowel pathology in utero is important for parental counseling and postnatal management. It is essential to recognize the US presentation of bowel pathology in the fetus in order to refer the patient for further evaluation or follow-up. Fetal MRI has been shown to offer some advantages over US for specific bowel abnormalities. In this paper, we review the normal appearance of the fetal bowel on US and MRI as well as the typical presentations of bowel pathologies. We discuss more specifically the importance of recognizing on fetal MRI the abnormalities of size and T1-weighted signal of the meconium-filled distal bowel. (orig.)

  10. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

    Science.gov (United States)

    Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

    2015-12-01

    The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

  11. Usefulness of fetal MR imaging for congenital urological anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Akasaka, Yoshinobu; Sugimura, Kazuro [Kobe Univ. (Japan). Graduate School of Medicine; Kanegawa, Kimio [Kobe Children' s Hospital (Japan)

    2002-04-01

    Despite the fact that congenital urological anomalies are not rare, the role of fetal MRI in these disorders has not been well defined. We evaluated the usefulness of MRI in the prenatal diagnosis of patients with such anomalies. A total of 23 cases were included in this study. The 23 cases were divided as follows: 7 cases of bilateral renal agenesis or severe hypogenesis (Potter sequence: PS), 8 cases of multicystic dysplastic kidney (2 cases were bilateral: MCDK), 5 cases of hydronephrosis (HN), one case of hydroureteronephrosis (HUN) and 2 cases of HN or HUN with duplication (DUP). In this study the scan time for fetal MRI was approximately 30 seconds for one sequence. Overall, the diagnostic accuracy was 65.2%; 85.2% for PS, 87.5% for MCDK, 60.0% for HN, 50.0% for HUN and 0% for DUP. Even though imaging quality was relatively poor for motion artifact in this series, we were able to diagnose PS and MCDK because of associated lung hypoplasia and its characteristic shape. The diagnosis of HN, HUN and DUP was difficult. HN was sometimes misdiagnosed as a retroperitoneal cystic mass because the dilation of calices was obscured in severe cases. In HUN and DUP cases dilation of the ureter was unclear. However, using HASTE or true FISP sequence may solve this problem. Based on this data, we conclude that fetal MRI is useful for prenatal diagnosis of urological anomalies. (author)

  12. Ultrasound diagnosis and evaluation of fetal tumors.

    Science.gov (United States)

    Kurjak, A; Zalud, I; Jurković, D; Alfirević, Z; Tomić, K

    1989-01-01

    Fetal tumors represent a rare and heterogeneous group of abnormalities. A significant proportion of them can now be diagnosed by using modern high resolution ultrasonic equipment. During 15 years there were 57 fetal tumours detected prenatally. Hygroma colli is the most frequent fetal tumor. It should be emphasized that cystic hygroma generally carries poor prognosis, and after an early diagnosis, termination of pregnancy is most logical approach. Contrary to the general opinion our own experience showed that there are cases in which prognosis could be much better as illustrated with our 4 cases. All of the treated fetuses, after surgical resection, had normal development and are now on the age of 5, 4, 3 and 2 years of life. An ovarian cyst can be suspected if a fluid-filled structure is visualized next to a fetal kidney and female external genitalia are recognizable. The ultrasound finding suggestive of an ovarian cyst is that of a pelvic cystic or complex mass in a female fetus with normal kidneys and urinary bladder and a normal gastrointestinal tract. In most cases, the normal course of fetal ovarian cyst is a spontaneous intrauterine or postnatal involution. Prenatal diagnosis improves neonatal outcome by allowing an appropriate choice of the optimal time, mode and place of delivery in order to avoid accidental and unexpected intrapartum and postnatal complications. The management of a fetus affected by an ovarian cyst depends on the size and on the echo-pattern of the cyst. It remains unclear whether in utero puncture of the cyst and evacuation of its content should be justified in cases of particularly large ovarian cyst. In our opinion intrauterine procedure can be attempted in the presence of large cyst fulfilling the fetal abdomen. We have treated actively two cases of large ovarian cysts by ultrasonically guided puncture before delivery and both fetuses underwent surgery later without complications. If properly performed puncture of the cyst seems to be

  13. Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure.

    Science.gov (United States)

    Paolozza, Angelina; Rasmussen, Carmen; Pei, Jacqueline; Hanlon-Dearman, Ana; Nikkel, Sarah M; Andrew, Gail; McFarlane, Audrey; Samdup, Dawa; Reynolds, James N

    2014-02-01

    Children with fetal alcohol spectrum disorder (FASD) or prenatal alcohol exposure (PAE) frequently exhibit impairment on tasks measuring inhibition. The objective of this study was to determine if a performance-based relationship exists between psychometric tests and eye movement tasks in children with FASD. Participants for this dataset were aged 5-17 years and included those diagnosed with an FASD (n=72), those with PAE but no clinical FASD diagnosis (n=21), and typically developing controls (n=139). Participants completed a neurobehavioral test battery, which included the NEPSY-II subtests of auditory attention, response set, and inhibition. Each participant completed a series of saccadic eye movement tasks, which included the antisaccade and memory-guided tasks. Both the FASD and the PAE groups performed worse than controls on the subtest measures of attention and inhibition. Compared with controls, the FASD group made more errors on the antisaccade and memory-guided tasks. Among the combined FASD/PAE group, inhibition and switching errors were negatively correlated with direction errors on the antisaccade task but not on the memory-guided task. There were no significant correlations in the control group. These data suggests that response inhibition deficits in children with FASD/PAE are associated with difficulty controlling saccadic eye movements which may point to overlapping brain regions damaged by prenatal alcohol exposure. The results of this study demonstrate that eye movement control tasks directly relate to outcome measures obtained with psychometric tests that are used during FASD diagnosis, and may therefore help with early identification of children who would benefit from a multidisciplinary diagnostic assessment. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Opportunities and challenges in prenatal diagnosis : towards personalized fetal genetics

    NARCIS (Netherlands)

    Lichtenbelt, K.D.

    2013-01-01

    In this thesis we studied the efficacy and utilization of prenatal screening and prenatal diagnosis in the Netherlands and the increasing options for prenatal genetic diagnosis in general. In chapter 1 background information on prenatal screening and diagnosis in pregnancies conceived through

  15. Onfalocele: Prognóstico Fetal em 51 Casos com Diagnóstico Pré-Natal Omphalocele: Fetal Prognosis in 51 Cases with Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Samir Aldalla Mustafá

    2001-02-01

    Full Text Available Objetivo: avaliar o prognóstico fetal dos casos de onfalocele com diagnóstico pré-natal. Métodos: foram analisados 51 casos de onfalocele com diagnóstico pré-natal e divididos em 3 grupos: grupo 1, onfalocele isolada; grupo 2, onfalocele com malformações estruturais associadas e cariótipo normal; grupo 3, onfalocele associada à cromossomopatia. As análises foram realizadas em relação à sobrevida geral e pós-correção cirúrgica, considerando as malformações associadas, idade gestacional no parto, peso no nascimento e tamanho da onfalocele. Resultados: o grupo 1 correspondeu a 21% (n = 11, o grupo 2 a 55% (n = 28 e o grupo 3 a 24% (n = 12. Todos os casos do grupo 3 evoluíram para óbito, e a cromossomopatia mais freqüente foi a trissomia do 18. A sobrevida foi de 80% no grupo 1 e de 25% no grupo 2. Dezesseis casos foram submetidos à correção cirúrgica (10 isoladas e 6 associadas e 81% sobreviveram (8 isoladas e 5 associadas. A mediana do peso no nascimento dos sobreviventes pós-correção cirúrgica foi 3.140 g e dos que morreram foi de 2.000 g (p = 0,148 e a idade gestacional do parto foi de 37 e de 36 semanas (p = 0,836, respectivamente. A relação das circunferências onfalocele/abdominal diminuiu com a idade gestacional, 0,88 entre 25-29 semanas e 0,65 entre 30-35 semanas (p = 0,043. Não foi observada diferença significativa no tamanho da onfalocele nos 3 grupos (p = 0,988 e influência deste prognóstico pós-correção cirúrgica (p = 0,553. Conclusão: a sobrevida geral e pós-correção cirúrgica foi de 25 e 81%, respectivamente. As malformações associadas representam o principal fator prognóstico das onfaloceles com diagnóstico pré-natal, visto que se associam com prematuridade e baixo peso.Purpose: to evaluate the prognosis of fetal omphalocele after prenatal diagnosis. Methods: fifty-one cases with prenatal diagnosis of fetal omphalocele were divided into three groups: group 1, isolated omphalocele

  16. Fetal Intervention in Right Outflow Tract Obstructive Disease: Selection of Candidates and Results

    Science.gov (United States)

    Gómez Montes, E.; Herraiz, I.; Mendoza, A.; Galindo, A.

    2012-01-01

    Objectives. To describe the process of selection of candidates for fetal cardiac intervention (FCI) in fetuses diagnosed with pulmonary atresia-critical stenosis with intact ventricular septum (PA/CS-IVS) and report our own experience with FCI for such disease. Methods. We searched our database for cases of PA/CS-IVS prenatally diagnosed in 2003–2012. Data of 38 fetuses were retrieved and analyzed. FCI were offered to 6 patients (2 refused). In the remaining it was not offered due to the presence of either favourable prognostic echocardiographic markers (n = 20) or poor prognostic indicators (n = 12). Results. The outcome of fetuses with PA/CS-IVS was accurately predicted with multiparametric scoring systems. Pulmonary valvuloplasty was technically successful in all 4 fetuses. The growth of the fetal right heart and hemodynamic parameters showed a Gaussian-like behaviour with an improvement in the first weeks and slow worsening as pregnancy advanced, probably indicating a restenosis. Conclusions. The most likely type of circulation after birth may be predicted in the second trimester of pregnancy by means of combining cardiac dimensions and functional parameters. Fetal pulmonary valvuloplasty in midgestation is technically feasible and in well-selected cases may improve right heart growth, fetal hemodynamics, and postnatal outcome. PMID:22928144

  17. Situs anomalies on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M.; Prayer, Daniela

    2012-01-01

    Objective: Situs anomalies refer to an abnormal organ arrangement, which may be associated with severe errors of development. Due regard being given to prenatal magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US), this study sought to demonstrate the in utero visualization of situs anomalies on MRI, compared to US. Materials and methods: This retrospective study included 12 fetuses with situs anomalies depicted on fetal MRI using prenatal US as a comparison modality. With an MRI standard protocol, the whole fetus was assessed for anomalies, with regard to the position and morphology of the following structures: heart; venous drainage and aorta; stomach and intestines; liver and gallbladder; and the presence and number of spleens. Results: Situs inversus totalis was found in 3/12 fetuses; situs inversus with levocardia in 1/12 fetuses; situs inversus abdominis in 2/12 fetuses; situs ambiguous with polysplenia in 3/12 fetuses, and with asplenia in 2/12 fetuses; and isolated dextrocardia in 1/12 fetuses. Congenital heart defects (CHDs), vascular anomalies, and intestinal malrotations were the most frequent associated malformations. In 5/12 cases, the US and MRI diagnoses were concordant. Compared to US, in 7/12 cases, additional MRI findings specified the situs anomaly, but CHDs were only partially visualized in six cases. Conclusions: Our initial MRI results demonstrate the visualization of situs anomalies and associated malformations in utero, which may provide important information for perinatal management. Using a standard protocol, MRI may identify additional findings, compared to US, which confirm and specify the situs anomaly, but, with limited MRI visualization of fetal CHDs.

  18. Corpus callosum agenesis: Role of fetal magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Achour Radhouane

    2016-05-01

    Full Text Available Corpus callosum agenesis (CCA was evaluated by ultrasound examination and magnetic resonance imaging (MRI with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was able to diagnose complete CCA in majority of cases. Additional neurological abnormalities including heterotopia, gyration anomaly, asymmetry of the cerebral hemispheres, and Dandy-Walker variant were documented, as well as an ocular anomaly which was described, by MRI examination. Prenatal counseling for fetal agenesis of the corpus callosum is difficult as the prognosis is uncertain. The association with other cerebral abnormalities increases the likelihood of a poor outcome and ultrasonographic assessment of the fetal brain is limited. We found MRI to be a safe and useful additional procedure to complement ultrasonographic diagnosis or suspicion of CCA.

  19. Prenatal Diagnosis of Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Özgür Özyüncü

    2010-04-01

    Full Text Available Skeletal dysplasias are a group of diseases with a wide spectrum related to bone and cartilage. Some forms are lethal whereas some forms have milder clinical progression. Prenatal diagnosis of skeletal dysplasias may be possible especially when there is an index case in the family. Ultrasonography plays the central role in prenatal diagnosis and most common sonographic features are angulation of long bones, bending of femur or bowing signin the long bones. We present a case whose follow up for fetal short extremities ended with termination of pregnancy. The differential diagnosis is hard and depend especially on the fetal x-ray. Final diagnosis was lethal type osteogenesis imperfecta.

  20. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  1. Characterization of fetal cells from the maternal circulation by microarray gene expression analysis - Could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis?

    DEFF Research Database (Denmark)

    Hatt, Lotte; Brinch, Marie; Singh, Ripudaman

    2014-01-01

    stem cell microarray analysis. Results: 39 genes were identified as candidates for unique fetal cell markers. More than half of these are genes known to be expressed in the placenta, especially in extravillous trophoblasts (EVTs). Immunohistochemical staining of placental tissue confirmed CD105......Introduction: Circulating fetal cells in maternal blood provide a tool for risk-free, non-invasive prenatal diagnosis. However, fetal cells in the maternal circulation are scarce, and to effectively isolate enough of them for reliable diagnostics, it is crucial to know which fetal cell type......(s) should be targeted. Materials and Methods: Fetal cells were enriched from maternal blood by magnetic-activated cell sorting using the endothelial cell marker CD105 and identified by XY fluorescence in situ hybridization. Expression pattern was compared between fetal cells and maternal blood cells using...

  2. Prenatal detection of microtia by MRI in a fetus with trisomy 22

    International Nuclear Information System (INIS)

    Milic, Andrea; Blaser, Susan; Robinson, Ashley; Viero, Sandra; Halliday, William; Winsor, Elizabeth; Toi, Ants; Thomas, Micki; Chitayat, David

    2006-01-01

    Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies. (orig.)

  3. Non‐invasive prenatal screening for chromosomal abnormalities ...

    African Journals Online (AJOL)

    Non‐invasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and ... fetal DNAtesting is a matter of concern, because of the low positive predictive value for these changes, and the associated significant cumulative false-positive rate.

  4. Fetal evaluation of spine dysraphism

    International Nuclear Information System (INIS)

    Bulas, Dorothy

    2010-01-01

    Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation with anomalous development of the caudal cell mass. Advances in ultrasound and MRI have dramatically improved the diagnosis and therapy of spinal dysraphism and caudal spinal anomalies both prenatally and postnatally. Advances in prenatal US including high frequency linear transducers and three dimensional imaging can provide detailed information concerning spinal anomalies. MR imaging is a complementary tool that can further elucidate spine abnormalities as well as associated central nervous system and non-CNS anomalies. Recent studies have suggested that 3-D CT can help further assess fetal spine anomalies in the third trimester. With the advent of fetal therapy including surgery, accurate prenatal diagnosis of open and closed spinal dysraphism becomes critical in appropriate counselling and perinatal management. (orig.)

  5. Fetal evaluation of spine dysraphism

    Energy Technology Data Exchange (ETDEWEB)

    Bulas, Dorothy [George Washington University Medical Center, Division of Diagnostic Imaging and Radiology, Children' s National Medical Center, Washington, DC (United States)

    2010-06-15

    Spinal dysraphism or neural tube defects (NTD) encompass a heterogeneous group of congenital spinal anomalies that result from the defective closure of the neural tube early in gestation with anomalous development of the caudal cell mass. Advances in ultrasound and MRI have dramatically improved the diagnosis and therapy of spinal dysraphism and caudal spinal anomalies both prenatally and postnatally. Advances in prenatal US including high frequency linear transducers and three dimensional imaging can provide detailed information concerning spinal anomalies. MR imaging is a complementary tool that can further elucidate spine abnormalities as well as associated central nervous system and non-CNS anomalies. Recent studies have suggested that 3-D CT can help further assess fetal spine anomalies in the third trimester. With the advent of fetal therapy including surgery, accurate prenatal diagnosis of open and closed spinal dysraphism becomes critical in appropriate counselling and perinatal management. (orig.)

  6. Application of a Consumer Health Information Needs Taxonomy to Questions in Maternal-Fetal Care.

    Science.gov (United States)

    Shenson, Jared A; Ingram, Ebone; Colon, Nadja; Jackson, Gretchen Purcell

    2015-01-01

    Pregnancy is a time when expectant mothers may have numerous questions about their unborn children, especially when congenital anomalies are diagnosed prenatally. We sought to characterize information needs of pregnant women seen in the Vanderbilt Children's Hospital Fetal Center. Participants recorded questions from diagnosis through delivery. Questions were categorized by two researchers using a hierarchical taxonomy describing consumer health information needs. Consensus category assignments were made, and inter-rater reliability was measured with Cohen's Kappa. Sixteen participants reported 398 questions in 39 subcategories, of which the most common topics were prognosis (53 questions; 13.3%) and indications for intervention (31 questions; 7.8%). Inter-rater reliability of assignments showed moderate (κ=0.57) to substantial (κ=0.75) agreement for subcategories and primary categories, respectively. Pregnant women with prenatal diagnoses have diverse unmet information needs; a taxonomy of consumer health information needs may improve the ability to meet such needs through content and system design.

  7. Fetal MRI and ultrasound of congenital CNS anomalies; Fetales MRT und Ultraschall der angeborenen ZNS-Fehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Pogledic, I.; Reith, W. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Meyberg-Solomayer, G. [Universitaetsklinikum des Saarlandes, Homburg/Saar, Klinik fuer Frauenheilkunde, Geburtsheilkunde und Reproduktionsmedizin, Homburg/Saar (Germany)

    2013-02-15

    In the last decade the newest technologies, fetal magnetic resonance imaging (MRI) and 3D ultrasound, have given an insight into the minute structures of the fetal brain. However, without knowledge of the basic developmental processes the imaging is futile. Knowledge of fetal neuroanatomy corresponding to the gestational week is necessary in order to recognize pathological structures. Furthermore, a modern neuroradiologist should be acquainted with the three steps in the formation of the cerebral cortex: proliferation, migration and differentiation of neurons in order to be in a position to suspect that there is a pathology and start recognizing and discovering the abnormalities. The fetal MRI has become an important complementary method to ultrasound especially in cortical malformations when confirmation of the prenatal diagnosis is needed and additional pathologies need to be diagnosed. In this manner these two methods help in parental counseling and treatment planning. (orig.) [German] Dank neuer Technologien (z. B. fetale MRT, 3-D-Sonographie) ist es moeglich, kleinste Hirnstrukturen darzustellen. Ohne Kenntnisse der grundlegenden Entwicklungsprozesse des Gehirns waere die Bildgebung jedoch sinnlos. Um pathologische Veraenderungen zu erkennen, ist es notwendig, den Stand der fetalen Neuroanatomie in der entsprechenden Schwangerschaftswoche zu kennen. Heutzutage sollte sich ein Neuroradiologe mit den 3 Schritten der kortikalen Entwicklung - Proliferation, Migration und Differenzierung der Neuronen - vertraut machen. Nur dann wird er in der Lage sein, pathologische Veraenderungen in Betracht zu ziehen, bzw. diese zu erkennen. Die fetale MRT ist besonders wichtig, ergaenzend zur zerebralen Sonographie, zur Diagnosebestaetigung bei kortikalen Veraenderungen und Nachweis weiterer Pathologien. In dieser Kombination ermoeglichen diese Methoden eine adaequate Beratung der Eltern und Planung der Behandlung. (orig.)

  8. Deficient maternal zinc intake-but not folate-is associated with lower fetal heart rate variability.

    Science.gov (United States)

    Spann, Marisa N; Smerling, Jennifer; Gustafsson, Hanna; Foss, Sophie; Altemus, Margaret; Monk, Catherine

    2015-03-01

    Few studies of maternal prenatal diet and child development examine micronutrient status in relation to fetal assessment. Twenty-four-hour dietary recall of zinc and folate and 20min of fetal heart rate were collected from 3rd trimester pregnant adolescents. Deficient zinc was associated with less fetal heart rate variability. Deficient folate had no associations with HRV. Neither deficient zinc nor deficient folate was related to fetal heart rate. These findings, from naturalistic observation, are consistent with emerging data on prenatal zinc supplementation using a randomized control design. Taken together, the findings suggest that maternal prenatal zinc intake is an important and novel factor for understanding child ANS development. Copyright © 2015. Published by Elsevier Ireland Ltd.

  9. Deficient maternal zinc intake—but not folate—is associated with lower fetal heart rate variability

    Science.gov (United States)

    Spann, Marisa N.; Smerling, Jennifer; Gustafsson, Hanna; Foss, Sophie; Altemus, Margaret; Monk, Catherine

    2015-01-01

    Objective Few studies of maternal prenatal diet and child development examine micronutrient status in relation to fetal assessment. Methods Twenty-four-hour dietary recall of zinc and folate and 20min of fetal heart rate were collected from 3rd trimester pregnant adolescents. Results Deficient zinc was associated with less fetal heart rate variability. Deficient folate had no associations with HRV. Neither deficient zinc nor deficient folate was related to fetal heart rate. Conclusions These findings, from naturalistic observation, are consistent with emerging data on prenatal zinc supplementation using a randomized control design. Practical Implication Taken together, the findings suggest that maternal prenatal zinc intake is an important and novel factor for understanding child ANS development. PMID:25658874

  10. Long-term neurodevelopmental outcome after fetal therapy

    NARCIS (Netherlands)

    Klink, Jeanine Monica Maria van

    2015-01-01

    An increasing number of fetal diseases are being detected prior to birth due to major improvements in prenatal ultrasound examinations and the wide implementation of screening programs. For various diseases, fetal therapy may be a life-saving option or an alternative to postnatal treatment, to

  11. Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

    Science.gov (United States)

    Lei, Ting; Feng, Jie-Ling; Xie, Ying-Jun; Xie, Hong-Ning; Zheng, Ju; Lin, Mei-Fang

    2017-11-01

    To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography. © 2017 John Wiley & Sons, Ltd.

  12. Cumulative effects of prenatal-exposure to exogenous chemicals and psychosocial stress on fetal growth: Systematic-review of the human and animal evidence.

    Science.gov (United States)

    Vesterinen, Hanna M; Morello-Frosch, Rachel; Sen, Saunak; Zeise, Lauren; Woodruff, Tracey J

    2017-01-01

    Adverse effects of prenatal stress or environmental chemical exposures on fetal growth are well described, yet their combined effect remains unclear. To conduct a systematic review on the combined impact and interaction of prenatal exposure to stress and chemicals on developmental outcomes. We used the first three steps of the Navigation Guide systematic review. We wrote a protocol, performed a robust literature search to identify relevant animal and human studies and extracted data on developmental outcomes. For the most common outcome (fetal growth), we evaluated risk of bias, calculated effect sizes for main effects of individual and combined exposures, and performed a random effects meta-analysis of those studies reporting on odds of low birthweight (LBW) by smoking and socioeconomic status (SES). We identified 17 human- and 22 animal-studies of combined chemical and stress exposures and fetal growth. Human studies tended to have a lower risk of bias across nine domains. Generally, we found stronger effects for chemicals than stress, and these exposures were associated with reduced fetal growth in the low-stress group and the association was often greater in high stress groups, with limited evidence of effect modification. We found smoking associated with significantly increased odds of LBW, with a greater effect for high stress (low SES; OR 4.75 (2.46-9.16)) compared to low stress (high SES; OR 1.95 (95% CI 1.53-2.48)). Animal studies generally had a high risk of bias with no significant combined effect or effect modification. We found that despite concern for the combined effects of environmental chemicals and stress, this is still an under-studied topic, though limited available human studies indicate chemical exposures exert stronger effects than stress, and this effect is generally larger in the presence of stress.

  13. Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

    Directory of Open Access Journals (Sweden)

    Ching-Yu Chou

    2015-03-01

    Full Text Available Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively.

  14. Effects of Prenatal Multiple Micronutrient Supplementation on Fetal Growth Factors: A Cluster-Randomized, Controlled Trial in Rural Bangladesh.

    Directory of Open Access Journals (Sweden)

    Alison D Gernand

    Full Text Available Prenatal multiple micronutrient (MM supplementation improves birth weight through increased fetal growth and gestational age, but whether maternal or fetal growth factors are involved is unclear. Our objective was to examine the effect of prenatal MM supplementation on intrauterine growth factors and the associations between growth factors and birth outcomes in a rural setting in Bangladesh. In a double-blind, cluster-randomized, controlled trial of MM vs. iron and folic acid (IFA supplementation, we measured placental growth hormone (PGH at 10 weeks and PGH and human placental lactogen (hPL at 32 weeks gestation in maternal plasma (n = 396 and insulin, insulin-like growth factor-1 (IGF-1, and IGF binding protein-1 (IGFBP-1 in cord plasma (n = 325. Birth size and gestational age were also assessed. Early pregnancy mean (SD BMI was 19.5 (2.4 kg/m2 and birth weight was 2.68 (0.41 kg. There was no effect of MM on concentrations of maternal hPL or PGH, or cord insulin, IGF-1, or IGFBP-1. However, among pregnancies of female offspring, hPL concentration was higher by 1.1 mg/L in the third trimester (95% CI: 0.2, 2.0 mg/L; p = 0.09 for interaction; and among women with height <145 cm, insulin was higher by 59% (95% CI: 3, 115%; p = 0.05 for interaction in the MM vs. IFA group. Maternal hPL and cord blood insulin and IGF-1 were positively, and IGFBP-1 was negatively, associated with birth weight z score and other measures of birth size (all p<0.05. IGF-1 was inversely associated with gestational age (p<0.05, but other growth factors were not associated with gestational age or preterm birth. Prenatal MM supplementation had no overall impact on intrauterine growth factors. MM supplementation altered some growth factors differentially by maternal early pregnancy nutritional status and sex of the offspring, but this should be examined in other studies.ClinicalTrials.gov NCT00860470.

  15. Effects of environmental stress during pregnancy on maternal and fetal plasma corticosterone and progesterone in the rat

    International Nuclear Information System (INIS)

    Fleming, D.E.; Rhees, R.W.; Williams, S.R.; Kurth, S.M.

    1986-01-01

    Prenatal stress applied during a presumed critical period (third trimester) for sexual differentiation of the brain has been shown to alter development and influence sexual behavior. This experiment was designed to study the effects of environmental stress (restraint/illumination/heat) on maternal and fetal plasma corticosterone and progesterone titers. These hormones were studied since corticosterone has been shown to alter brain differentiation and progesterone has anti-androgen properties and since the secretion of both from the adrenal cortex is stimulated by ACTH. Plasma corticosterone and progesterone titers of both stressed and control gravid rats and their fetuses were measured on gestational days 18 and 20 by radioimmunoassay. Prenatal stress significantly reduced fetal body weight and fetal adrenal weight. Maternal pituitary weight was significantly increased. Prenatal stress caused a significant elevation in maternal corticosterone and progesterone titers and in fetal corticosterone titers. There was no difference between prenatal stressed and control fetal plasma progesterone levels. These data demonstrate that environmental stress significantly increases adrenal activity beyond that brought about naturally by pregnancy, and therefore may modify sequential hormonal events during fetal development

  16. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

    Science.gov (United States)

    Armour, Christine M; Dougan, Shelley Danielle; Brock, Jo-Ann; Chari, Radha; Chodirker, Bernie N; DeBie, Isabelle; Evans, Jane A; Gibson, William T; Kolomietz, Elena; Nelson, Tanya N; Tihy, Frédérique; Thomas, Mary Ann; Stavropoulos, Dimitri J

    2018-01-01

    Background The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. Methods A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the CCMG membership-at-large for feedback and, following incorporation of feedback, was approved by the CCMG Board of Directors on 5 June 2017 and the SOGC Board of Directors on 19 June 2017. Results and conclusions Recommendations include but are not limited to: (1) CMA should be offered following a normal rapid aneuploidy screen when multiple fetal malformations are detected (II-1A) or for nuchal translucency (NT) ≥3.5 mm (II-2B) (recommendation 1); (2) a professional with expertise in prenatal chromosomal microarray analysis should provide genetic counselling to obtain informed consent, discuss the limitations of the methodology, obtain the parental decisions for return of incidental findings (II-2A) (recommendation 4) and provide post-test counselling for reporting of test results (III-A) (recommendation 9); (3) the resolution of chromosomal microarray analysis should be similar to postnatal microarray platforms to ensure small pathogenic variants are detected. To minimise the reporting of uncertain findings, it is recommended that variants of unknown significance (VOUS) smaller than 500 Kb deletion or 1 Mb duplication not be routinely

  17. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.

    Science.gov (United States)

    Armour, Christine M; Dougan, Shelley Danielle; Brock, Jo-Ann; Chari, Radha; Chodirker, Bernie N; DeBie, Isabelle; Evans, Jane A; Gibson, William T; Kolomietz, Elena; Nelson, Tanya N; Tihy, Frédérique; Thomas, Mary Ann; Stavropoulos, Dimitri J

    2018-04-01

    The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the CCMG membership-at-large for feedback and, following incorporation of feedback, was approved by the CCMG Board of Directors on 5 June 2017 and the SOGC Board of Directors on 19 June 2017. Recommendations include but are not limited to: (1) CMA should be offered following a normal rapid aneuploidy screen when multiple fetal malformations are detected (II-1A) or for nuchal translucency (NT) ≥3.5 mm (II-2B) (recommendation 1); (2) a professional with expertise in prenatal chromosomal microarray analysis should provide genetic counselling to obtain informed consent, discuss the limitations of the methodology, obtain the parental decisions for return of incidental findings (II-2A) (recommendation 4) and provide post-test counselling for reporting of test results (III-A) (recommendation 9); (3) the resolution of chromosomal microarray analysis should be similar to postnatal microarray platforms to ensure small pathogenic variants are detected. To minimise the reporting of uncertain findings, it is recommended that variants of unknown significance (VOUS) smaller than 500 Kb deletion or 1 Mb duplication not be routinely reported in the prenatal context. Additionally

  18. Prenatal choline supplementation mitigates behavioral alterations associated with prenatal alcohol exposure in rats.

    Science.gov (United States)

    Thomas, Jennifer D; Idrus, Nirelia M; Monk, Bradley R; Dominguez, Hector D

    2010-10-01

    Prenatal alcohol exposure can alter physical and behavioral development, leading to a range of fetal alcohol spectrum disorders. Despite warning labels, pregnant women continue to drink alcohol, creating a need to identify effective interventions to reduce the severity of alcohol's teratogenic effects. Choline is an essential nutrient that influences brain and behavioral development. Recent studies indicate that choline supplementation can reduce the teratogenic effects of developmental alcohol exposure. The present study examined whether choline supplementation during prenatal ethanol treatment could mitigate the adverse effects of ethanol on behavioral development. Pregnant Sprague-Dawley rats were intubated with 6 g/kg/day ethanol in a binge-like manner from gestational days 5-20; pair-fed and ad libitum chow controls were included. During treatment, subjects from each group were intubated with either 250 mg/kg/day choline chloride or vehicle. Spontaneous alternation, parallel bar motor coordination, Morris water maze, and spatial working memory were assessed in male and female offspring. Subjects prenatally exposed to alcohol exhibited delayed development of spontaneous alternation behavior and deficits on the working memory version of the Morris water maze during adulthood, effects that were mitigated with prenatal choline supplementation. Neither alcohol nor choline influenced performance on the motor coordination task. These data indicate that choline supplementation during prenatal alcohol exposure may reduce the severity of fetal alcohol effects, particularly on alterations in tasks that require behavioral flexibility. These findings have important implications for children of women who drink alcohol during pregnancy. © 2010 Wiley-Liss, Inc.

  19. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

    Science.gov (United States)

    Garnier, Arnaud; Dreux, Sophie; Vargas-Poussou, Rosa; Oury, Jean-François; Benachi, Alexandra; Deschênes, Georges; Muller, Françoise

    2010-03-01

    Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss. The responsible genes encode proteins involved in electrolyte tubular reabsorption. Prenatal manifestations, mainly recurrent polyhydramnios because of fetal polyuria, lead to premature delivery. After birth, polyuria leads to life-threatening dehydration. Prenatal genetic diagnosis needs an index case. The aim of this study was to analyze amniotic fluid biochemistry for the prediction of Bartter syndrome. We retrospectively studied 16 amniotic fluids of Bartter syndrome-affected fetuses diagnosed after birth, only six of them being genetically proven. We assayed total proteins, alpha-fetoprotein, and electrolytes and defined a Bartter index corresponding to the multiplication of total protein and of alpha-fetoprotein. Results were compared with two control groups matched for gestational age-non-Bartter polyhydramnios (n = 30) and nonpolyhydramnios (n = 60). In Bartter syndrome, we observed significant differences (p Bartter index (0.16, 0.82, and 1.0, respectively). No statistical difference was observed for electrolytes. In conclusion, Bartter syndrome can be prenatally suspected on amniotic fluid biochemistry (sensitivity 93% and specificity 100%), allowing appropriate management before and after birth.

  1. Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Ozge Ozalp Yuregir

    2012-02-01

    Full Text Available Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment and molecular (DNA mutation analysis tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000: 80-94

  2. Prenatal diagnosis of lissencephaly: A case report

    Directory of Open Access Journals (Sweden)

    Cerovac Nataša

    2016-01-01

    Full Text Available Introduction. Lissencephaly (“smooth brain” forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. Case report. We presented a case of the prenatal diagnosis of lissencephaly. A 30-year old pregnant woman was reffered to the hospital at the week 35 of gestation for magnetic resonance imaging (MRI after an ultrasound examination demonstrated fetal cerebral ventriculomegaly. Fetal MRI of the brain showed “smooth”, agyrya cortex. The female infant was born at term with birth weight of 2,500 g and Apgar score 8, showing global developmental delay. Postnatal ultrasound and MRI confirmed classical lissencephaly. She is now 8 years old and has spastic quadriparesis, mental retardation and epilepsy. Conclusion. Confirmation of the ultrasound diagnosis with MRI is desirable for the prenatal diagnosis of lissencephaly.

  3. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Paolo Guanciali Franchi

    Full Text Available From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD. The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated, 1:31 to 1:899 (second trimester screening indicated and ≤1:900 (no further action, and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR of 1:11, equivalent to a positive predictive value (PPV of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%. For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.

  4. PATTERNS OF ORBITOFACIAL AND ORBITAL GROWTH AT PRENATAL STAGE DERIVED FROM FETAL AUTOPSY STUDIES. Patrones de crecimiento órbito-facial y orbital en la etapa prenatal derivados de los estudios de autopsias fetales

    Directory of Open Access Journals (Sweden)

    Tulika Gupta

    2016-03-01

    Full Text Available Objetivo: Las mediciones orbitofaciales y orbitales del feto pueden ser útiles para el diagnóstico precoz prenatal de malformaciones craneofaciales. La mayoría de los estudios anteriores se basan en la ecografía y sólo hay unos cuantos estudios basados en autopsias fetales. El Análisis detallado de los distintos parámetros puede proporcionar una base de datos útil para una rápida referencia. Métodos: En cincuenta fetos normales de edades gestacionales diferentes, se midieron los siguientes parámetros: las distancias cantales externa e interna, la longitud de la hendidura palpebral, la longitud oropalpebral, la profundidad y la anchura de la órbita y la distancia interorbital. Resultados: El análisis estadístico reveló una correlación positiva significativa de todos estos parámetros con la edad gestacional y con el diámetro biparietal. Los patrones de crecimiento de los pará-metros orbitales y orbitofacial también demostraron una correlación significativa entre sí. Conclusión: Nuestros resultados muestran que el aumento de las partes laterales de la cara y de la longitud facial vertical se produce a un ritmo más rápido en comparación con la parte media de la cara. Las desviaciones de los datos normativos generados para los parámetros orbitales y orbitofacial ayudarán en la detección precoz de síndromes genéticos específicos. Objective: Fetal orbitofacial and orbital measurements may be helpful in early prenatal diagnosis of craniofacial malformation. Most of the earlier studies are ultrasound based and there are only a few studies based on fetal autopsies. Comprehensive analysis of various parameters can provide useful database for easy reference. Methods: In fifty normal fetuses of different gestational ages, the following parameters were measured: outer and inner canthal distances, palpebral fissure length, oropalpebral length, depth and width of orbit and inter orbital distance. Results: Statistical analysis

  5. Fetal cerebral imaging - ultrasound vs. MRI: an update.

    Science.gov (United States)

    Blondiaux, Eléonore; Garel, Catherine

    2013-11-01

    The purpose of this article is to analyze the advantages and limitations of prenatal ultrasonography (US) and magnetic resonance imaging (MRI) in the evaluation of the fetal brain. These imaging modalities should not be seen as competitive but rather as complementary. There are wide variations in the world regarding screening policies, technology, skills, and legislation about termination of pregnancy, and these variations markedly impact on the way of using prenatal imaging. According to the contribution expected from each technique and to local working conditions, one should choose the most appropriate imaging modality on a case-by-case basis. The advantages and limitations of US and MRI in the setting of fetal brain imaging are displayed. Different anatomical regions (midline, ventricles, subependymal area, cerebral parenchyma, pericerebral space, posterior fossa) and pathological conditions are analyzed and illustrated in order to compare the respective contribution of each technique. An accurate prenatal diagnosis of cerebral abnormalities is of utmost importance for prenatal counseling.

  6. Fetal endoscopic myelomeningocele closure preserves segmental neurological function

    NARCIS (Netherlands)

    Verbeek, Renate J.; Heep, Axel; Maurits, Natalia M.; Cremer, Reinhold; Hoving, Eelco W.; Brouwer, Oebele F.; Van der Hoeven, Johannes H.; Sival, Deborah A.

    AIM:   Our aim was to compare the effect of prenatal endoscopic with postnatal myelomeningocele closure (fetally operated spina bifida aperta [fSBA]) versus neonatally operated spina bifida aperta [nSBA]) on segmental neurological leg condition. METHOD:   Between 2003 and 2009, the fetal surgical

  7. Diagnóstico ecocardiográfico de cardiopatías complejas fetales: Estudio de 9 años

    Directory of Open Access Journals (Sweden)

    Miguel Pérez Ramírez

    2002-12-01

    Full Text Available Se realizó un estudio con ecocardiografía bidimensional a las pacientes que asistieron a la consulta de ultrasonido en el municipio Baracoa, provincia de Guantánamo, en el período comprendido entre enero de 1993 y diciembre del 2001, con el objetivo principal de demostrar la posibilidad de diagnosticar malformaciones cardíacas fetales complejas que no son de centros de referencias de esta afección. Entre otras variables analizadas se hallaron: efectividad del diagnóstico prenatal ecográfico de cardiopatías, tipos de cardiopatías diagnosticadas, tiempo gestacional en el momento de realizarse la ecografía, edad de la paciente embarazada, así como los resultados de las necropsias fetales. Entre los principales resultados que se obtuvieron están: que fueron diagnosticadas 21 cardiopatías, lo que representó el 84 %; la principal cardiopatía compleja diagnosticada fue el ventrículo único con 8; el tiempo gestacional más afectado fue el comprendido entre 25 y 34 semanas; el grupo etáreo más afectado fue el de 19 a 30 años. Se concluye señalando las principales alteraciones ecocardiográficas para este tipo de afección.A bidimensional echocardiography-based study was performed on patients that went to the ultrasound service department in the municipality of Baracoa, Guantánamo province, from January 1993 to December 2001. Its main objective was to prove the possibility of diagnosing complex fetal heart defects that do not correspond to reference centers of this disease. Some of the analyzed variables were: effectiveness of the prenatal echographic diagnosis of heart defects, types of diagnosed heart defects, gestational time at the moment of echography, age of the pregnant patient as well as the results of the fetal necropsies. Among the main results obtained were: twenty-one heart defects were diagnosed for 84% of the total; the main diagnosed heart defect was having only one ventricle in 8 cases; the most affected gestational

  8. Prenatal and postnatal evaluation of polymicrogyria with band heterotopia.

    Science.gov (United States)

    Nagaraj, Usha D; Hopkin, Robert; Schapiro, Mark; Kline-Fath, Beth

    2017-09-01

    The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings. Polymicrogyria with band heterotopia can occur and can be diagnosed with fetal MRI. The coexistence of corpus callosum anomalies and megalencephaly comprises a rare phenotype that has been previously described, suggesting an underlying genetic abnormality.

  9. Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

    Directory of Open Access Journals (Sweden)

    Usha D. Nagaraj, MD

    2017-09-01

    Full Text Available The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings. Polymicrogyria with band heterotopia can occur and can be diagnosed with fetal MRI. The coexistence of corpus callosum anomalies and megalencephaly comprises a rare phenotype that has been previously described, suggesting an underlying genetic abnormality.

  10. Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21

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    Ori Shen

    2014-04-01

    Full Text Available The aim of this study was to examine if isolated fetal ventricular septal defect (VSD is associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a pediatric cardiologist were reviewed. Cases with known risk factors for congenital heart disease, the presence of other major anomalies, soft signs for trisomy 21 or a positive screen test for trisomy 21 were excluded. Ninety two cases formed the study group. None of the cases in the study group had trisomy 21. The upper limit of prevalence for trisomy 21 in isolated VSD is 3%. When prenatal VSD is not associated with other major anomalies, soft markers for trisomy 21 or a positive nuchal translucency or biochemical screen, a decision whether to perform genetic amniocentesis should be individualized. The currently unknown association between isolated VSD and microdeletions and microduplications should be considered when discussing this option.

  11. Partial Trisomy 16p (16p12.2→pter and Partial Monosomy 22q (22q13.31 →qter Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Partial trisomy 16p can be associated with fetal ascites and ventriculomegaly in the second trimester. Prenatal sonographic detection of fetal ascites in association with ventriculomegaly should alert chromosomal abnormalities and prompt cytogenetic investigation, which may lead to the identification of an unexpected parental translocation involving chromosomal segments associated with cerebral and vascular abnormalities.

  12. Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Badillo, Andrea T.

    2017-01-01

    Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management. We retrospectively reviewed 12 prenatally diagnosed cases of small-bowel obstruction evaluated by both US and MRI from 2005 to 2015. We analyzed gestational age at evaluation, US and MRI findings, gestational age at delivery and postnatal outcomes. The final diagnoses were jejunal atresia (7), ileal atresia (1), cystic fibrosis (3) and combined jejunal and anal atresia (1). Four of the eight with jejunal atresia were found to have multiple small-bowel atresias. Prenatal perforation was noted in three. We identified a trend of increasing complexity of bowel contents corresponding to progressively distal level of obstruction, as indicated by increasing US echogenicity and high T1 signal on MRI. Seven cases of jejunal atresia and one case of ileal atresia demonstrated small ascending, transverse and descending colon (microcolon) with filling of a normal-diameter rectum. In contrast, all three fetuses with cystic fibrosis and the fetus with jejunal-anal atresia demonstrated microcolon as well as abnormal paucity or absence of rectal meconium. Polyhydramnios was present in nine. Eight were delivered prematurely, of whom seven had polyhydramnios. The fetus with jejunal and anal atresia died in utero. Postnatally, three had short gut syndrome, all resulting from multiple jejunal atresias; these three were among a subset of four fetuses whose bowel diameter measured more than 3 cm. Eight infants had no further

  13. Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Medical System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Badillo, Andrea T. [Children' s National Medical System, Division of General and Thoracic Surgery, Washington, DC (United States)

    2017-04-15

    Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management. We retrospectively reviewed 12 prenatally diagnosed cases of small-bowel obstruction evaluated by both US and MRI from 2005 to 2015. We analyzed gestational age at evaluation, US and MRI findings, gestational age at delivery and postnatal outcomes. The final diagnoses were jejunal atresia (7), ileal atresia (1), cystic fibrosis (3) and combined jejunal and anal atresia (1). Four of the eight with jejunal atresia were found to have multiple small-bowel atresias. Prenatal perforation was noted in three. We identified a trend of increasing complexity of bowel contents corresponding to progressively distal level of obstruction, as indicated by increasing US echogenicity and high T1 signal on MRI. Seven cases of jejunal atresia and one case of ileal atresia demonstrated small ascending, transverse and descending colon (microcolon) with filling of a normal-diameter rectum. In contrast, all three fetuses with cystic fibrosis and the fetus with jejunal-anal atresia demonstrated microcolon as well as abnormal paucity or absence of rectal meconium. Polyhydramnios was present in nine. Eight were delivered prematurely, of whom seven had polyhydramnios. The fetus with jejunal and anal atresia died in utero. Postnatally, three had short gut syndrome, all resulting from multiple jejunal atresias; these three were among a subset of four fetuses whose bowel diameter measured more than 3 cm. Eight infants had no further

  14. Prenatal diagnosis of conjoined twins by magnetic resonance imaging: report of two cases; Diagnostico pre-natal de gemeos unidos com uso da ressonancia nuclear magnetica: relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Souza, Alex Sandro Rolland de; Medeiros, Cynthia Coelho de; Lins, Glaucia Virginia de Queiroz [Instituto Materno Infantil Professor Fernando Figueira (IMIP), Recife, PE (Brazil); Noronha Neto, Carlos [Centro Integrado de Saude Amaury de Medeiros (CISAM), Recife, PE (Brazil); Lima, Marcelo Marques de Souza [Universidade Federal de Sao Paulo (UNIFESP/EPM), Sao Paulo, SP (Brazil)]. E-mail: alexrolland@uol.com.br

    2006-07-15

    Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome. (author)

  15. Controversias actuales para definir las alteraciones del bienestar fetal Current controversies to define changes in the fetal wellbeing

    Directory of Open Access Journals (Sweden)

    Danilo Nápoles Méndez

    2013-02-01

    Full Text Available Como propuesta de diferentes sociedades científicas se estableció el término estado fetal no tranquilizador en sustitución de sufrimiento fetal, que era considerado inespecífico. Esta revisión bibliográfica se efectuó a fin de exponer a la comunidad médica los diferentes términos con que se definen las alteraciones del bienestar fetal y la influencia que el empleo de las expresiones estado fetal no tranquilizador y riesgo de pérdida del bienestar fetal generan en la práctica de Obstetricia. Asimismo, se puso énfasis en la necesidad de buscar un lenguaje técnico más unificado y se concluyó que la formación de estos términos no determina la correspondencia existente entre la evaluación prenatal del feto y su estado al nacer.As a proposal of different scientific societies the term non reassuring fetal status was coined, substituting it by fetal distress which was considered nonspecific. This literature review was carried out in order to show to the medical community the different terms with which the changes of the fetal wellbeing are defined and the influence that the use of the expressions non reassuring fetal status and the risk of loss of the fetal well-being generate in Obstetrics. Likewise, the necessity of looking for a more unified technical language was emphasized and it was concluded that these terms do not determine the existent correspondence between the prenatal evaluation of the fetus and its status at birth.

  16. First and second trimester screening for fetal structural anomalies.

    Science.gov (United States)

    Edwards, Lindsay; Hui, Lisa

    2018-04-01

    Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over

  17. Prenatal diagnosis of Cantrell's pentalogy with conventional and three-dimensional sonography.

    Science.gov (United States)

    León, G; Chedraui, P; San Miguel, G

    2002-09-01

    Omphaloceles and gastroschisis are the most common defects of the fetal anterior abdominal wall. The association of an omphalocele with an anterior thoracic wall defect could result from a variety of congenital syndromes of which Cantrell's pentalogy is the most common. For proper surgical scheduling of the neonate, early diagnosis of each of the components of this syndrome is important. The presence of a congenital intracardiac anomaly is the best predictor of neonatal mortality. We present a case of Cantrell's pentalogy diagnosed prenatally with conventional and three-dimensional sonographic imaging, and confirmed at birth. We discuss this case and the reports in the world literature.

  18. The Danish Fetal Medicine Database

    Directory of Open Access Journals (Sweden)

    Ekelund CK

    2016-10-01

    Full Text Available Charlotte Kvist Ekelund,1 Tine Iskov Kopp,2 Ann Tabor,1 Olav Bjørn Petersen3 1Department of Obstetrics, Center of Fetal Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; 2Registry Support Centre (East – Epidemiology and Biostatistics, Research Centre for Prevention and Health, Glostrup, Denmark; 3Fetal Medicine Unit, Aarhus University Hospital, Aarhus Nord, Denmark Aim: The aim of this study is to set up a database in order to monitor the detection rates and false-positive rates of first-trimester screening for chromosomal abnormalities and prenatal detection rates of fetal malformations in Denmark. Study population: Pregnant women with a first or second trimester ultrasound scan performed at all public hospitals in Denmark are registered in the database. Main variables/descriptive data: Data on maternal characteristics, ultrasonic, and biochemical variables are continuously sent from the fetal medicine units' Astraia databases to the central database via web service. Information about outcome of pregnancy (miscarriage, termination, live birth, or stillbirth is received from the National Patient Register and National Birth Register and linked via the Danish unique personal registration number. Furthermore, results of all pre- and postnatal chromosome analyses are sent to the database. Conclusion: It has been possible to establish a fetal medicine database, which monitors first-trimester screening for chromosomal abnormalities and second-trimester screening for major fetal malformations with the input from already collected data. The database is valuable to assess the performance at a regional level and to compare Danish performance with international results at a national level. Keywords: prenatal screening, nuchal translucency, fetal malformations, chromosomal abnormalities

  19. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

    DEFF Research Database (Denmark)

    Lou, Stina; Petersen, Olav B.; Jørgensen, Finn Stener

    2018-01-01

    INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (> 90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences...... of implementing a comprehensive, national prenatal screening guideline. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark MATERIAL AND METHODS: Data on invasive...... procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry RESULTS: From 1973-1993 screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994...

  20. Clinical utility of fetal autopsy and its impact on genetic counseling.

    Science.gov (United States)

    Nayak, Shalini S; Shukla, Anju; Lewis, Leslie; Kadavigere, Rajagopal; Mathew, Mary; Adiga, Prashanth K; Vasudeva, Akhila; Kumar, Pratap; Shetty, Jyothi; Shah, Hitesh; Girisha, Katta M

    2015-07-01

    We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling. Detailed fetal autopsy was carried out in fetuses referred for examination. Clinical utility of fetal autopsy and its impact on counseling were measured by adapting previously published parameters. We performed autopsy in 230 fetuses. There were 106 cases with single system and 92 cases with multisystem involvement. We confirmed prenatal findings in 23% of cases and observed additional findings in 37% of cases. In 23% of cases, autopsy findings differed enough to change the diagnosis. However, in 17% of fetuses, no cause of fetal loss was determined. Risk of recurrence became clear in 30.3% of the fetuses, and risk remained the same, but the diagnosis was different in 4.8% of cases after autopsy. Hence, autopsy led to refinement of the risk of recurrence in 36% of cases. Autopsy aided prenatal counseling of couples in 77% of cases by either confirming the prenatal findings (35%) or providing new information/ruling out a diagnosis (42%). The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort. © 2015 John Wiley & Sons, Ltd.

  1. [Effect of music on fetal behaviour].

    Science.gov (United States)

    Malinova, M; Malinova, M

    2004-01-01

    Antenatal music stimulation shown to elicit fetal heart rate and body movement responses, indicating that prenatal experience with music influences auditory functional development. The slower tempo resulted in less movement variation.

  2. Prenatal MRI in correlation with ultrasound

    International Nuclear Information System (INIS)

    Balev, B.; Baleva, D.; Ivanova, D.; Popova, R.

    2012-01-01

    Full text: Fetal MRI is an already established method in prenatal imaging, with complementary to US role. Most common considerations for fetal MRI are CNS anomalies and urogenital anomalies. Practically, the most frequent indication is ultrasonographically established ventriculomegaly. We introduce our experience in fetal MRI, presenting the distribution of pathological findings and our protocols. We have examined 33 fetuses for a 3-year period. Among these 13 cases were affected by CNS anomalies (neural tube defects, Dandy-Walker, cerebellar hypoplasia, agenesis of corpus callosum, aqueductal atresia, etc.), 11 fetuses are affected by urogenital anomalies (pieloureteral stenosis, VUR, renal agenesis, etc.), 5 with other pathology (congenital tumor, ovarian cysts, etc.) and 4 are normal fetuses. The findings in most interesting cases are reviewed; in some of them we present imaging-pathological correlation and/or follow up imaging. Main advantages of fetal MRI over US consist of acquiring objective and reproducible images, giving the opportunity of multiple expert-leveled reviews; exceptionally high detail concerning CNS-anatomy; additional confidence in excluding presence of concomitant anomalies; independence from calavarial ossification and maternal obesity. Ultrasound remains the main tool for prenatal imaging. MRI has similar sensitivity and higher specificity, thus serving as an arbitrage method and improving accuracy about outcome prognosis

  3. Evolution of ventricular outpouching through the fetal and postnatal periods: Unabating dilemma of serial observation or surgical correction

    Directory of Open Access Journals (Sweden)

    Niraj Kumar Dipak

    2017-07-01

    Full Text Available Ventricular outpouching is a rare finding in prenatal sonography and the main differential diagnoses are diverticulum, aneurysm, and pseudoaneurysm in addition to congenital cysts and clefts. The various modes of fetal presentation of congenital ventricular outpouching include an abnormal four-chamber view on fetal two-dimensional echocardiogram, fetal arrhythmia, fetal hydrops, and pericardial effusion. Left ventricular aneurysm (LVA/nonapical diverticula are usually isolated defects. Apical diverticula are always associated with midline thoracoabdominal defects (epigastric pulsating diverticulum or large omphalocele and other structural malformations of the heart. Most patients with LVA/congenital ventricular diverticulum remain clinically asymptomatic but they can potentially give rise to complications such as ventricular tachyarrhythmias, systemic embolism, sudden death, spontaneous rupture, and severe valvular regurgitation. The treatment of asymptomatic LVA and isolated congenital ventricular diverticulum is still undefined. In this review, our aim is to outline a systematic approach to a fetus detected with ventricular outpouching. Starting with prevalence and its types, issues in fetal management, natural course and evolution postbirth, and finally the perpetual dilemma of serial observation or surgical correction is discussed.

  4. Prenatal diagnosis of conjoined twins by magnetic resonance imaging: report of two cases

    International Nuclear Information System (INIS)

    Souza, Alex Sandro Rolland de; Medeiros, Cynthia Coelho de; Lins, Glaucia Virginia de Queiroz; Noronha Neto, Carlos; Lima, Marcelo Marques de Souza

    2006-01-01

    Conjoined twins have a rare prevalence and special curiosity among physicians and the general population. The reported frequency varies from 1:50,000 to 1:200,000 pregnancies. Its early diagnosis becomes very important when we think about pregnancy management, method of delivery and neonatal care. We describe two cases of conjoined twins diagnosed by ultrasound and magnetic resonance during prenatal care with the aim to better studying the fetus anatomy. The first conjoined twins were cephalopagus sharing head, thorax and abdominal wall and with two pelvis and four arms and four legs. The second were thoracopagus, united by thorax and part of abdomen. Magnetic resonance imaging contribution was not important to diagnose conjoined twins. However, it was useful to describe the shared organs, contributing to define fetal outcome. (author)

  5. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    Science.gov (United States)

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. Copyright © 2011 S. Karger AG, Basel.

  6. Prenatal Exposure to Maternal Depression and Cortisol Influences Infant Temperament

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Schetter, Christine Dunkel; Hobel, Calvin; Chicz-Demet, Aleksandra; Sandman, Curt A.

    2007-01-01

    Background: Accumulating evidence indicates that prenatal maternal and fetal processes can have a lasting influence on infant and child development. Results from animal models indicate that prenatal exposure to maternal stress and stress hormones has lasting consequences for development of the offspring. Few prospective studies of human pregnancy…

  7. The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform.

    Directory of Open Access Journals (Sweden)

    Young Joo Jeon

    Full Text Available OBJECTIVE: Recent non-invasive prenatal testing (NIPT technologies are based on next-generation sequencing (NGS. NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms. The majority of NIPT technology is associated with Illumina platform. We investigated whether fetal trisomy 18 and 21 were sensitively and specifically detectable by semiconductor sequencer: Ion Proton. METHODS: From March 2012 to October 2013, we enrolled 155 pregnant women with fetuses who were diagnosed as high risk of fetal defects at Xiamen Maternal & Child Health Care Hospital (Xiamen, Fujian, China. Adapter-ligated DNA libraries were analyzed by the Ion Proton™ System (Life Technologies, Grand Island, NY, USA with an average 0.3× sequencing coverage per nucleotide. Average total raw reads per sample was 6.5 million and mean rate of uniquely mapped reads was 59.0%. The results of this study were derived from BWA mapping. Z-score was used for fetal trisomy 18 and 21 detection. RESULTS: Interactive dot diagrams showed the minimal z-score values to discriminate negative versus positive cases of fetal trisomy 18 and 21. For fetal trisomy 18, the minimal z-score value of 2.459 showed 100% positive predictive and negative predictive values. The minimal z-score of 2.566 was used to classify negative versus positive cases of fetal trisomy 21. CONCLUSION: These results provide the evidence that fetal trisomy 18 and 21 detection can be performed with semiconductor sequencer. Our data also suggest that a prospective study should be performed with a larger cohort of clinically diverse obstetrics patients.

  8. Fetal echocardiography

    International Nuclear Information System (INIS)

    Chaubal, Nitin G.; Chaubal, Jyoti

    2009-01-01

    USG performed with a high-end machine, using a good cine-loop facility is extremely helpful in the diagnosis of fetal cardiac anomalies. In fetal echocardiography, the four-chamber view and the outflow-tract view are used to diagnose cardiac anomalies. The most important objective during a targeted anomaly scan is to identify those cases that need a dedicated fetal echocardiogram. Associated truncal and chromosomal anomalies need to be identified. This review shows how fetal echocardiography, apart from identifying structural defects in the fetal heart, can be used to look at rhythm abnormalities and other functional aspects of the fetal heart

  9. [Risk assessment for fetal trisomy 21 based on nuchal translucency measurement and biochemical screening at 11-13 weeks.].

    Science.gov (United States)

    Harðardóttir, H

    2001-05-01

    Screening for fetal aneuploidy during the first trimester using fetal nuchal translucency measurement and maternal serum free ss-hCG (ss-human chorionic gonadotropin) and PAPP-A (pregnancy associated plasma protein A) is commonly practised. An approach with a one stop clinic for assessment of risk for fetal anomalies, where pre-test counseling, blood test, ultrasound and post-test counseling is offered in one hour visit is described. Based on maternal age, biochemistry and fetal nuchal translucency measurement an estimated risk for fetal trisomies 13,18 and 21 is calculated. The main benefit of this approach in screening for fetal aneuploidy is the short turnaround time, with immediate results and a low screen positive rate. This approach leads to diagnosis of the majority (95%) of fetal aneuploidy cases. If screening is positive a diagnostic test is available with chorionic villous sampling or amniocentesis. In Iceland, fetal karyotyping is offered to women 35 years and older and performed during the second trimester, but by using this approach prenatal diagnosis can be moved to the first trimester and also offered to women of all ages. A screening approach with a series of steps from 10-15 weeks, including maternal blood test at 10 and again at 15 weeks, as well as an ultrasound and nuchal translucency measurement at 11-13 weeks, with integrated results at 15+ weeks has been proposed. This method offers even lower screen positive rate (1%) while detection rates of fetal aneuploides are high (>90%) but it requires four visits instead of one and the prolonged approach is likely to cause excess anxiety for the parents to be. If all women are to be offered prenatal sreening in the first trimester the structure of prenatal care in Iceland needs some modifications including scheduling the first prenatal visit at 8-10 weeks and teaching healthcare providers counseling regarding prenatal testing.

  10. SLC9B1 methylation predicts fetal intolerance of labor.

    Science.gov (United States)

    Knight, Anna K; Conneely, Karen N; Kilaru, Varun; Cobb, Dawayland; Payne, Jennifer L; Meilman, Samantha; Corwin, Elizabeth J; Kaminsky, Zachary A; Dunlop, Anne L; Smith, Alicia K

    2018-01-01

    Fetal intolerance of labor is a common indication for delivery by Caesarean section. Diagnosis is based on the presence of category III fetal heart rate tracing, which is an abnormal heart tracing associated with increased likelihood of fetal hypoxia and metabolic acidemia. This study analyzed data from 177 unique women who, during their prenatal visits (7-15 weeks and/or 24-32 weeks) to Atlanta area prenatal care clinics, consented to provide blood samples for DNA methylation (HumanMethylation450 BeadChip) and gene expression (Human HT-12 v4 Expression BeadChip) analyses. We focused on 57 women aged 18-36 (mean 25.4), who had DNA methylation data available from their second prenatal visit. DNA methylation patterns at CpG sites across the genome were interrogated for associations with fetal intolerance of labor. Four CpG sites (P value intolerance of labor. DNA methylation and gene expression were negatively associated when examined longitudinally during pregnancy using a linear mixed-effects model. Positive predictive values of methylation of these four sites ranged from 0.80 to 0.89, while negative predictive values ranged from 0.91 to 0.92. The four CpG sites were also associated with fetal intolerance of labor in an independent cohort (the Johns Hopkins Prospective PPD cohort). Therefore, fetal intolerance of labor could be accurately predicted from maternal blood samples obtained between 24-32 weeks gestation. Fetal intolerance of labor may be accurately predicted from maternal blood samples obtained between 24-32 weeks gestation by assessing DNA methylation patterns of SLC9B1. The identification of pregnant women at elevated risk for fetal intolerance of labor may allow for the development of targeted treatments or management plans.

  11. Fetal alcohol spectrum disorders har fået danske kriterier

    DEFF Research Database (Denmark)

    Broccia, Marcella; Vikre-Jørgensen, Jennifer; Rausgaard, Nete Lundager Klokker

    2017-01-01

    The Danish Paediatric Society presents the first Danish definition of fetal alcohol spectrum disorders (FASD) in a new guideline. FASD is an umbrella term for conditions caused by prenatal alcohol exposure. To varying degrees, fetal alcohol damages manifest as physical defects, characteristic fac...

  12. Fetal alcohol spectrum disorders har fået danske kriterier

    DEFF Research Database (Denmark)

    Broccia, Marcella; Vikre-Jørgensen, Jennifer; Rausgaard, Nete Lundager Klokker

    2017-01-01

    The Danish Paediatric Society presents the first Danish definition of fetal alcohol spectrum disorders (FASD) in a new guideline. FASD is an umbrella term for conditions caused by prenatal alcohol exposure. To varying degrees, fetal alcohol damages manifest as physical defects, characteristic...

  13. Noninvasive prenatal testing: the future is now.

    Science.gov (United States)

    Norwitz, Errol R; Levy, Brynn

    2013-01-01

    Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. Given the well-recognized association between increasing maternal age and trisomy,1-3 the primary utilization of prenatal testing has been by older mothers. This has drastically reduced the incidence of aneuploid children born to older mothers.4 Although younger women have relatively low risks of conceiving a child with aneuploidy, the majority of pregnant women are in their late teens, 20s, and early 30s. As such, most viable aneuploid babies are born to these younger mothers.5 Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed-including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks-all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk. Ultrasound and maternal serum analysis are considered screening procedures and both require follow up by CVS or amniocentesis in screen-positive cases for a definitive diagnosis of a chromosome abnormality in the fetus. The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that

  14. Prospective study of fetal hydronephrosis diagnosed by ultrasound- contribution to prevent renal damage in childhood; Estudo prospectivo da hidronefrose fetal diagnosticada por ultra-som: uma contribuicao na prevencao ao dano renal na infancia

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Eduardo A.; Cabral, Antonio Carlos V.; Leite, Henrique V.; Filgueiras, Teresa F.; Oliveira, Raquel B.B.; Vilasboas, Aranai S.; Tiburcio, Arthur E.L.; Diniz, Jose Silveiro S. [Minas Gerais Univ., Belo Horizonte, MG (Brazil). Hospital de Clinicas

    1998-03-01

    Newborns with anomalies of the urinary tract detected by fetal echography were investigated. The purpose was to identify prevalent uropathies, clinical outcome and variables of prognostic significance in patients with fetal hydronephrosis. The patients were investigated by ultrasound, micturating cystourethrography and radionuclide imaging, after beginning of chemoprophylaxis. Renal function and urinary tract infection were also studied. Eight-three patients were included in this study, 54(65,1%) of these were boys. Postnatal predominant diagnosis were pelviureteric junction obstruction (3,3%) and multicytic kidney (15,7%). Follow-up average was 35 {+-} 2.5 months. Renal function deteriored in 8 children during follow-up. Worse prognosis was associated with prenatal diagnosis before third trimester of gestation, bilateral uropathy, oligohydrammios, abnormal palpable kidney or bladder, abnormal renal function on admission and urethral obstruction. (author) 40 refs., 3 figs.

  15. Prenatal diagnosis of congenital ranula: Case Report

    Directory of Open Access Journals (Sweden)

    Aytül Çorbacıoğlu Esmer

    2013-12-01

    Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

  16. Fetal Abuse and the Criminalization of Behavior during Pregnancy.

    Science.gov (United States)

    Farr, Kathryn Ann

    1995-01-01

    Discusses efforts to criminalize fetal abuse, harm caused from a pregnant woman's use of illegal drugs. Such efforts have typically failed to withstand judicial scrutiny. Suggests that criminal prosecution for fetal abuse relies on questionable procedures, is unevenly applied, and may keep women from seeking drug treatment or prenatal care. (LKS)

  17. Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

    Directory of Open Access Journals (Sweden)

    Behnaz Moradi

    2017-12-01

    Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

  18. Developmental programming: Impact of prenatal testosterone treatment and postnatal obesity on ovarian follicular dynamics

    OpenAIRE

    Padmanabhan, V; Smith, P; Veiga-Lopez, A

    2012-01-01

    Prenatal testosterone (T) excess leads to reproductive dysfunctions in sheep with obesity exaggerating such defects. Developmental studies found ovarian reserve is similar in control and prenatal T sheep at fetal day 140, with prenatal T females showing increased follicular recruitment and persistence at 10 months of age (postpubertal). This study tested if prenatal T sheep show accelerated depletion prepubertally and if depletion of ovarian reserve would explain loss of cyclicity in prenatal...

  19. Prenatal Diagnosis of Fetal Encephalomalacia after Maternal Diabetic Ketoacidosis

    Science.gov (United States)

    Love, Rozalyn; Lee, Amy; Matiasek, April; Carter, William; Ylagan, Marissa

    2014-01-01

    Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI) demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors. PMID:25452892

  20. Prenatal Diagnosis of Fetal Encephalomalacia after Maternal Diabetic Ketoacidosis

    Directory of Open Access Journals (Sweden)

    Rozalyn Love

    2014-11-01

    Full Text Available Introduction - Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case - We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion - Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors.

  1. Prenatal diagnosis of fetal encephalomalacia after maternal diabetic ketoacidosis.

    Science.gov (United States)

    Love, Rozalyn; Lee, Amy; Matiasek, April; Carter, William; Ylagan, Marissa

    2014-11-01

    Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI) demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors.

  2. Fetal tachyarrhythmia: literature data and case study

    Directory of Open Access Journals (Sweden)

    Lukianova I.S.

    2016-03-01

    Full Text Available Fetal tachyarrhythmia is unfeigned in most cases and occurs in about 1–3% of the total number of pregnancies. Most of it's kinds are ectopic intraatrial reductions. FA is usually diagnosed during the routine, starting from 18 weeks of gestation, ultrasound assessment of the fetal heart rate. Approximately 10% of fetuses with rhythm disorders are at high risk of sudden death. Supraventricular tachycardia and atrial fibrillation are the most common causes of sudden death, the same is observed for bradyarrhythmias: manifest sinus bradycardia (hypoxic genesis and expressed AV-blockade. The examination of all fetuses with arrhythmia was strongly recommended in cases of intrauterine cardiac arrest or death of the fetus in families. Arrhythmias which have been revealed during scheduled prenatal examination of the fetuses are in need of expert echocardiography assessment to determine the extent of possible pre- and postnatal risk of sudden death and the paril of arrhythmogenic cardiomyopathy formation. In case of identified life-threatening arrhythmia in fetus the pharmacological therapy, which greatly affects the favorable outcome is strongly recommended. It should be based on hemodynamic of pregnant and aimed to prevent the development of decompensation or arrhythmogenic cardiomyopathy.

  3. Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Su, Yi-Ning; Lin, Tzu-Hung; Chang, Tung-Yao; Su, Jun-Wei; Wang, Wayseen

    2013-12-01

    We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II ultrasound showed a normal amount of amniotic fluid and a singleton fetus with fetal biometry equivalent to 30 weeks except for short limbs. Fetal biometry measurements were as follows: biparietal diameter = 7.38 cm (30 weeks); head circumference = 28.14 cm (30 weeks); abdominal circumference (AC) = 24.64 cm (30 weeks); femur length (FL) = 3.97 cm ( 0.18); humerus = 3.64 cm (diagnosis of achondroplasia (ACH) was made. DNA testing for the FGFR3 gene and whole-genome array comparative genomic hybridization (aCGH) analysis were performed using cord blood DNA obtained by cordocentesis. FGFR3 mutation analysis revealed a de novo heterozygous c.833A > G, TAC > TGC transversion in exon 7 leading to a p.Tyr278Cys (Y278C) mutation in the FGFR3 protein. aCGH analysis revealed no genomic imbalance in cord blood. After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. Cytogenetic analysis of cultured placental cells revealed a karyotype of 46,XX. Prenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3. Copyright © 2013. Published by Elsevier B.V.

  4. Can postmortem fetal MR imaging replace autopsy?

    International Nuclear Information System (INIS)

    Cho, Jeong Yeon; Song, Mi Jin; Kim, Seoung Hyup

    2001-01-01

    The purposes of this study were to compare postmortem fetal MRI findings with autopsy findings and to assess whether postmortem MRI can replace autopsy. The study group consisted of 13 stillborn fetuses, seven that died immediately after birth, and five terminated because of anomalies seen on prenatal sonograms. A total 17 were male, and eight were female, and their gestational ages were from 20 to 41 (average;28.2) weeks. Spin-echo T1-and T2-weighted axial, sagittal, and coronal MR images were obtained, and autopsy findings were divided into major and minor. A major finding was defined as an anomaly or syndrome which caused fetal death or termination of the pregnancy: minor findings were classified, on the basis of gross inspection, as internal or external. MR images were retrospectively analyzed by two radiologists unaware of the autopsy findings, and by comparison with these, the postmortem MRI detection rates for major and minor findings was then determined. In seven of 25 fetuses, MR imaging revealed major findings, a dietction rate of 100%. There were two cases of anencephaly, two of trisomy-18, and one each of hydrops fetalis with large cystic hygroma, diaphragmatic hernia, and Dandy-Walker malformation. Twenty-three of 60 minor findings (38.3%) were detected by MRI. The detection rates for external and internal findings were 29.6%(8/27) and 45.5%(15/33), respectively. Although a limitation of our study is the low detection rate for minor findings, postmortem fetal MRI may help diagnose the major cause of fetal death

  5. Fetal Programming and Cardiovascular Pathology

    Science.gov (United States)

    Alexander, Barbara T.; Dasinger, John Henry; Intapad, Suttira

    2016-01-01

    Low birth weight serves as a crude proxy for impaired growth during fetal life and indicates a failure for the fetus to achieve its full growth potential. Low birth weight can occur in response to numerous etiologies that include complications during pregnancy, poor prenatal care, parental smoking, maternal alcohol consumption or stress. Numerous epidemiological and experimental studies demonstrate that birth weight is inversely associated with blood pressure and coronary heart disease. Sex and age impact the developmental programming of hypertension. In addition, impaired growth during fetal life also programs enhanced vulnerability to a secondary insult. Macrosomia, which occurs in response to maternal obesity, diabetes and excessive weight gain during gestation, is also associated with increased cardiovascular risk. Yet, the exact mechanisms that permanently change the structure, physiology and endocrine health of an individual across their lifespan following altered growth during fetal life are not entirely clear. Transmission of increased risk from one generation to the next in the absence of an additional prenatal insult indicates an important role for epigenetic processes. Experimental studies also indicate that the sympathetic nervous system, the renin angiotensin system, increased production of oxidative stress and increased endothelin play an important role in the developmental programming of blood pressure in later life. Thus, this review will highlight how adverse influences during fetal life and early development program an increased risk for cardiovascular disease including high blood pressure and provide an overview of the underlying mechanisms that contribute to the fetal origins of cardiovascular pathology. PMID:25880521

  6. Fetal programming and cardiovascular pathology.

    Science.gov (United States)

    Alexander, Barbara T; Dasinger, John Henry; Intapad, Suttira

    2015-04-01

    Low birth weight serves as a crude proxy for impaired growth during fetal life and indicates a failure for the fetus to achieve its full growth potential. Low birth weight can occur in response to numerous etiologies that include complications during pregnancy, poor prenatal care, parental smoking, maternal alcohol consumption, or stress. Numerous epidemiological and experimental studies demonstrate that birth weight is inversely associated with blood pressure and coronary heart disease. Sex and age impact the developmental programming of hypertension. In addition, impaired growth during fetal life also programs enhanced vulnerability to a secondary insult. Macrosomia, which occurs in response to maternal obesity, diabetes, and excessive weight gain during gestation, is also associated with increased cardiovascular risk. Yet, the exact mechanisms that permanently change the structure, physiology, and endocrine health of an individual across their lifespan following altered growth during fetal life are not entirely clear. Transmission of increased risk from one generation to the next in the absence of an additional prenatal insult indicates an important role for epigenetic processes. Experimental studies also indicate that the sympathetic nervous system, the renin angiotensin system, increased production of oxidative stress, and increased endothelin play an important role in the developmental programming of blood pressure in later life. Thus, this review will highlight how adverse influences during fetal life and early development program an increased risk for cardiovascular disease including high blood pressure and provide an overview of the underlying mechanisms that contribute to the fetal origins of cardiovascular pathology. © 2015 American Physiological Society.

  7. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

    Science.gov (United States)

    Bianchi, Diana W; Chudova, Darya; Sehnert, Amy J; Bhatt, Sucheta; Murray, Kathryn; Prosen, Tracy L; Garber, Judy E; Wilkins-Haug, Louise; Vora, Neeta L; Warsof, Stephen; Goldberg, James; Ziainia, Tina; Halks-Miller, Meredith

    2015-07-14

    sampled after completion of treatment for colorectal cancer and the abnormal pattern was no longer evident. In this preliminary study, a small number of cases of occult malignancy were subsequently diagnosed among pregnant women whose noninvasive prenatal testing results showed discordance with the fetal karyotype. The clinical importance of these findings will require further research.

  8. Prenatal radiation doses from radiopharmaceuticals

    International Nuclear Information System (INIS)

    Rojo, A.M.; Gomez Parada, I.M.; Di Trano, J.L.

    1998-01-01

    The radiopharmaceutical administration with diagnostic or therapeutic purpose during pregnancy implies a prenatal radiation dose. The dose assessment and the evaluation of the radiological risks become relevant due to the great radiosensitivity of the fetal tissues in development. This paper is a revision of the available data for estimating fetal doses in the cases of the more frequently used radiopharmaceuticals in nuclear medicine, taking into account recent investigation in placental crossover. The more frequent diagnostic and therapeutic procedures were analyzed according to the radiation doses implied. (author) [es

  9. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  10. Fetal abuse and neglect: an emerging controversy.

    Science.gov (United States)

    Landwirth, J

    1987-04-01

    Advances in fetal medicine have expanded opportunities for protection of fetal health and intrauterine management of an increasing number of fetal disorders. The legal rights and duties of parents to provide necessary medical treatment for the child may extend to the prenatal period. Resolution of the conflict between the rights of the fetus to be born healthy and the pregnant woman's right of privacy is difficult and controversial. It is suggested that intrusion into a woman's individual fundamental rights for the potential benefit of her fetus should be permissible only in narrowly defined circumstances.

  11. Fetal magnetic resonance imaging: methods and techniques; Fetale Magnetresonanztomographie: Methoden und Technik

    Energy Technology Data Exchange (ETDEWEB)

    Brugger, P.C. [Zentrum fuer Anatomie und Zellbiologie, Medizinische Universitaet Wien (Austria). Arbeitsgruppe Integrative Morphologie; Stuhr, F.; Lindner, C.; Prayer, D. [Medizinische Universitaet Wien (Austria). Klinik fuer Radiodiagnostik

    2006-02-15

    Since the introduction of fetal magnetic resonance imaging (MRI) into prenatal diagnostics, advances in coil technology and development of ultrafast sequences have further enhanced this technique. At present numerous sequences are available to visualize the whole fetus with high resolution and image quality, even in late stages of pregnancy. Taking into consideration the special circumstances of examination and adjusting sequence parameters to gestational age, fetal anatomy can be accurately depicted. The variety of sequences also allows further characterization of fetal tissues and pathologies. Fetal MRI not only supplies additional information to routine ultrasound studies, but also reveals fetal morphology and pathology in a way hitherto not possible. (orig.) [German] Seit Einfuehrung der fetalen Magnetresonanztomographie (MRT) in die praenatale Diagnostik wurde das Verfahren durch neue Spulentechniken und die Entwicklung ultraschneller Sequenzen kontinuierlich weiter entwickelt. Gegenwaertig steht eine Vielzahl von Sequenzen zur Verfuegung, die es erlauben, mit hoher Bildqualitaet und raeumlicher Aufloesung selbst in fortgeschrittenen Schwangerschaftsstadien den gesamten Feten darzustellen. Unter Beruecksichtigung der speziellen Untersuchungsbedingungen und des Schwangerschaftsalters kann so die fetale Anatomie genau abgebildet werden. Die Vielfalt an Sequenzen und deren gezielter Einsatz ermoeglichen es weiter, fetale Gewebe und Pathologien naeher zu charakterisierten. Auf diese Weise liefert die fetale MRT nicht nur Zusatzinformationen zur Routineultraschalluntersuchung, sie gibt auch Aufschluss ueber bestimmte fetale Morphologien und Pathologien, die bisher nicht darstellbar waren. (orig.)

  12. Prenatal MRI evaluation of limb-body wall complex

    Energy Technology Data Exchange (ETDEWEB)

    Aguirre-Pascual, Elisa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Hospital Universitario Doce de Octubre, Department of Radiology, Madrid (Spain); Epelman, Monica [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Nemours Children' s Hospital, Department of Medical Imaging, Orlando, FL (United States); Johnson, Ann M.; Chauvin, Nancy A.; Coleman, Beverly G.; Victoria, Teresa [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Philadelphia, PA (United States)

    2014-11-15

    The sonographic (US) features of limb-body wall complex have been well documented; however the literature regarding the findings on MRI in limb-body wall complex is scant. To characterize the prenatal MRI features of limb-body wall complex. We performed a retrospective review of all MRI scans of fetuses diagnosed with limb-body wall complex at our institution from 2001 to 2011. Fetuses without correlating US scans or follow-up information were excluded. Three pediatric radiologists blinded to the specific US findings reviewed the prenatal MRIs. Images were evaluated for the organ location and attachment, the body part affected, characterization of the body wall defect, and spinal, limb and umbilical cord abnormalities. Ten subjects met inclusion criteria. MRI was able to detect and characterize the body part affected and associated abnormalities. All fetuses had ventral wall defects, a small thorax and herniated liver and bowel. The kidneys were extracorporeal in three cases. The extruded organs were attached to the placenta or the uterine wall in all cases. Abnormal spinal curvatures of various degrees of severity were present in all cases. Eight cases had a short, uncoiled cord. Limb anomalies were present in 6 of the 10 cases. We illustrate the common fetal MRI findings of limb-body wall complex. The prenatal diagnosis of limb-body wall complex and the differentiation of this defect from treatable abdominal wall defects are crucial to providing appropriate guidance for patient counseling and management. (orig.)

  13. Impact of Oxidative Stress in Fetal Programming

    OpenAIRE

    Thompson, Loren P.; Al-Hasan, Yazan

    2012-01-01

    Intrauterine stress induces increased risk of adult disease through fetal programming mechanisms. Oxidative stress can be generated by several conditions, such as, prenatal hypoxia, maternal under- and overnutrition, and excessive glucocorticoid exposure. The role of oxidant molecules as signaling factors in fetal programming via epigenetic mechanisms is discussed. By linking oxidative stress with dysregulation of specific target genes, we may be able to develop therapeutic strategies that pr...

  14. The number of fetal cells in maternal blood is associated to exercise and fetal gender

    DEFF Research Database (Denmark)

    Schlütter, Jacob Mørup; Kirkegaard, Ida; Christensen, Connie Britta

    Introduction: We have established a robust method to specifically identify and isolate a placental fetal cell in maternal blood (fcmbs) at a gestational age of 12 weeks. The concentration of these cells, however, varies considerably among pregnant women (median 3 fcmbs/30 mL blood, range 0...... activity was obtained by a questionnaire and a structured interview. The number of fcmbs was assessed in 30 mL blood processed by a proprietary method developed in-house. Fetal cells in the blood, binding to fetal cell specific antibodies, were initially isolated by magnetic cell sorting. The fetal cells...... vs. 4, p=0.06) decreased the number of fcmbs, whereas coitus the evening before increased the number (4 vs. 3, p=0.11). Conclusion: The number of fcmbs is affected by normal activities. This should be taken into account when planning collection of fetal cells in connection for prenatal diagnosis...

  15. Mosaicismo inusual en un caso de diagnóstico prenatal citogenético

    Directory of Open Access Journals (Sweden)

    Luis A. Méndez Rosado

    1998-06-01

    Full Text Available Se detecta prenatalmente un paciente con una translocación recíproca entre los brazos largos de los cromosomas 13 y 18, que aparentemente era balanceada. El cariotipo de ambos padres en la sangre periférica fue normal y deciden no correr el riesgo de tener un niño afectado. En el análisis de corroboración del diagnóstico prenatal, que se realizó en el tejido fetal, se observó un mosaicismo, al aparecer la misma translocación verificada prenatalmente en el cultivo de piel y un complemento cromosómico normal 46,XX en el cultivo de sangre fetal. Por lo inusual de este mosaicismo se recomienda tener en cuenta casos como éste en las consultas de asesoramiento genético.A patient with a reciprocal translocation between the long arms of chromosomes 13 and 18, which was apparently balanced, was prenatally detected. The karyotipe of both parents in the peripheral blood was normal and they decided no to run the risk of having an affected child. In the analysis of corroboration of the prenatal diagnosis that was made with fetal tissue, mosaicism was observed on appearing the same prenatally verified translocation in the skin culture and a normal chromosomic complement 46,XX in the fetal blood culture. Due to the unusual character of this mosaicism, it is recommended to have into account cases like this is in the genetic counseling consultations.

  16. Prenatal diagnosis and treatment perspective of fetal hypothyroidism with goiter

    International Nuclear Information System (INIS)

    Gulraze, A.; Kurdi, W.; Tulbah, M.; Niaz, F.A.

    2013-01-01

    We describe two cases of fetal goiter in women with no history of thyroid disease. Diagnosis of fetal goiter during antenatal care was made by ultrasound and MRI. Congenital hypothyroidism was confirmed by fetal blood sampling that was treated with weekly intra-amniotic injections of L-thyroxin. One fetus was initially treated with four weekly intra-amniotic injections of 200 mu gms of L-thyroxin, later increased to 400 mu gms. The other fetus was treated with only three weekly intraamniotic injections of 400 mu gms of L-thyroxin. Therapeutic response was monitored by repeated ultrasound and MRI along with fetal blood sampling. At birth, none of the babies had goiter and were put on oral thyroxin. Post-natal studies were suggestive of congenital hypothyroidism due to dyshormogenesis. No abnormality was detected at follow-up. These cases highlight the role of intra-amniotic thyroxine in management of fetal hypothyroidism with goiter. (author)

  17. The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards.

    Science.gov (United States)

    Carlsson, Tommy; Starke, Veronica; Mattsson, Elisabet

    2017-05-01

    to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. cross-sectional qualitative study of messages in public online discussion boards. Swedish public discussion boards about reproductive subjects. ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches. three phases were identified in the process of moving from the diagnosis to the birth: shock, existential crisis, and life remodeling. The people posting message ('posters') moved from initial shock to existential crisis and, lastly, a phase of remodeling life later in the pregnancy. During the pregnancy, considerable worries about both antenatal and postnatal aspects were expressed. To cope with their situation, the posters distanced themselves from the diagnoses, vented their feelings, sought control, and obtained practical support from friends and relatives. expectant parents faced with a prenatal diagnosis move from initial shock to a phase of life remodeling and acceptance. Burdened with considerable worries, expectant parents cope with their situation through informational, emotional, and instrumental support from health professionals, family, friends, and peers. health professionals should make sure that expectant parents feel involved in planning their children's postnatal care, that they are offered sufficient information, and that they have access to emotional and instrumental support structures. Copyright © 2017. Published by Elsevier Ltd.

  18. Suppressed osteoclast differentiation at the chondro-osseous junction mediates endochondral ossification retardation in long bones of Wistar fetal rats with prenatal ethanol exposure

    Energy Technology Data Exchange (ETDEWEB)

    Pan, Zhengqi [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Zhang, Xianrong [Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China); Shangguan, Yangfan; Hu, Hang [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Chen, Liaobin, E-mail: lbchen@whu.edu.cn [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China); Wang, Hui, E-mail: wanghui19@whu.edu.cn [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan 430071 (China)

    2016-08-15

    Prenatal ethanol exposure (PEE) inhibits longitudinal growth of fetal bones, but the underlying mechanisms remain unknown. In this study, we aimed to investigate how PEE induces the retardation of long bone development in fetal rats. Pregnant Wistar rats were treated with ethanol or distilled water (control group) by gavage from gestational day (GD) 9 to 20. Fetuses were delivered by cesarean section on GD20. Fetal sera were collected for assessing corticosterone (CORT) level. Fetal long bones were harvested for histochemical, immunohistochemical and gene expression analysis. Primary chondrocytes were treated with ethanol or CORT for analyzing genes expression. PEE fetuses showed a significant reduction in birth weight and body length. The serum CORT concentration in PEE group was significantly increased, while the body weight, body length and femur length all were significantly decreased in the PEE group. The length of the epiphyseal hypertrophy zone was enlarged, whereas the length of the primary ossification center was significantly reduced in PEE fetuses. TUNEL assay showed reduced apoptosis in the PEE group. Further, the gene expression of osteoprotegerin (OPG) was markedly up-regulated. In vitro experiments showed that CORT (but not ethanol) treatment significantly activated the expression of OPG, while the application of glucocorticoid receptor inhibitor, mifepristone, attenuated these change induced by CORT. These results indicated that PEE-induced glucocorticoid over-exposure enhanced the expression of OPG in fetal epiphyseal cartilage and further lead to the suppressed osteoclast differentiation in the chondro-osseous junction and consequently inhibited the endochondral ossification in long bones of fetal rats. - Highlights: • Glucocorticoid but not ethanol enhanced the expression of OPG in chondrocytes. • PEE reduced osteoclast differentiation relative with over-expression of OPG. • PEE inhibited endochondral ossification in fetal long bones of

  19. Fetal and infantile alcohol-mediated associative learning in the rat.

    Science.gov (United States)

    Abate, P; Spear And, N E; Molina, J C

    2001-07-01

    Infant rats express conditioned responses to an odor experienced prenatally as a chemosensory cue associated with moderate alcohol intoxication. This study examined postnatal intake of a chemosensory cue (cineole) that had been paired with alcohol's unconditioned effects. It also tested the interaction between prenatal association and postnatal conditioning with cineole and alcohol. Pregnant female rats intubated with cineole were given ethanol (EtOH).25 or 4.0 hr later. Other groups received only water or water paired with ethanol. During postnatal day 15 (PD15), infant consumption of cineole solution was assessed. After the cineole drinking test, pups were intubated with EtOH or water to assess infant conditioning. On PD16, all pups were tested for mouthing to milk alone or to a milk-cineole solution. Statistical analysis confirmed fetal associative conditioning attributable to the unconditioned effects of prenatal alcohol. Fetuses given explicit pairings of cineole and alcohol ingested less cineole on PD15 than control fetuses given a 4-hr interval between cineole and alcohol. On PD16, consumption of cineole was significantly increased by prenatal exposure to cineole. Teratogenic effects of this dose of prenatal alcohol did not affect postnatal associative or nonassociative behavior. Prenatal associative learning can be established through temporal contiguity between fetal chemosensory stimulation and alcohol's unconditioned properties. This associative memory survives to infancy and modulates intake patterns and behavioral reactivity to substances that were prenatally paired with alcohol intoxication.

  20. Commercial landscape of noninvasive prenatal testing in the United States.

    Science.gov (United States)

    Agarwal, Ashwin; Sayres, Lauren C; Cho, Mildred K; Cook-Deegan, Robert; Chandrasekharan, Subhashini

    2013-06-01

    Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times, and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers, and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests. © 2013 John Wiley & Sons, Ltd.

  1. Glucocorticoid programming of the fetal male hippocampal epigenome.

    Science.gov (United States)

    Crudo, Ariann; Suderman, Matthew; Moisiadis, Vasilis G; Petropoulos, Sophie; Kostaki, Alisa; Hallett, Michael; Szyf, Moshe; Matthews, Stephen G

    2013-03-01

    The late-gestation surge in fetal plasma cortisol is critical for maturation of fetal organ systems. As a result, synthetic glucocorticoids (sGCs) are administered to pregnant women at risk of delivering preterm. However, animal studies have shown that fetal exposure to sGC results in increased risk of behavioral, endocrine, and metabolic abnormalities in offspring. Here, we test the hypothesis that prenatal GC exposure resulting from the fetal cortisol surge or after sGC exposure results in promoter-specific epigenetic changes in the hippocampus. Fetal guinea pig hippocampi were collected before (gestational day [GD52]) and after (GD65) the fetal plasma cortisol surge (Term∼GD67) and 24 hours after (GD52) and 14 days after (GD65) two repeat courses of maternal sGC (betamethasone) treatment (n = 3-4/gp). We identified extensive genome-wide alterations in promoter methylation in late fetal development (coincident with the fetal cortisol surge), whereby the majority of the affected promoters exhibited hypomethylation. Fetuses exposed to sGC in late gestation exhibited substantial differences in DNA methylation and histone h3 lysine 9 (H3K9) acetylation in specific gene promoters; 24 hours after the sGC treatment, the majority of genes affected were hypomethylated or hyperacetylated. However, 14 days after sGC exposure these differences did not persist, whereas other promoters became hypermethylated or hyperacetylated. These data support the hypothesis that the fetal GC surge is responsible, in part, for significant variations in genome-wide promoter methylation and that prenatal sGC treatment profoundly changes the epigenetic landscape, affecting both DNA methylation and H3K9 acetylation. This is important given the widespread use of sGC in the management of women in preterm labor.

  2. DNA methylome profiling of maternal peripheral blood and placentas reveal potential fetal DNA markers for non-invasive prenatal testing.

    Science.gov (United States)

    Xiang, Yuqian; Zhang, Junyu; Li, Qiaoli; Zhou, Xinyao; Wang, Teng; Xu, Mingqing; Xia, Shihui; Xing, Qinghe; Wang, Lei; He, Lin; Zhao, Xinzhi

    2014-09-01

    Utilizing epigenetic (DNA methylation) differences to differentiate between maternal peripheral blood (PBL) and fetal (placental) DNA has been a promising strategy for non-invasive prenatal testing (NIPT). However, the differentially methylated regions (DMRs) have yet to be fully ascertained. In the present study, we performed genome-wide comparative methylome analysis between maternal PBL and placental DNA from pregnancies of first trimester by methylated DNA immunoprecipitation-sequencing (MeDIP-Seq) and Infinium HumanMethylation450 BeadChip assays. A total of 36 931 DMRs and 45 804 differentially methylated sites (DMSs) covering the whole genome, exclusive of the Y chromosome, were identified via MeDIP-Seq and Infinium 450k array, respectively, of which 3759 sites in 2188 regions were confirmed by both methods. Not only did we find the previously reported potential fetal DNA markers in our identified DMRs/DMSs but also we verified fully the identified DMRs/DMSs in the validation round by MassARRAY EpiTYPER. The screened potential fetal DNA markers may be used for NIPT on aneuploidies and other chromosomal diseases, such as cri du chat syndrome and velo-cardio-facial syndrome. In addition, these potential markers may have application in the early diagnosis of placental dysfunction, such as pre-eclampsia. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

    Science.gov (United States)

    Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

    2016-09-01

    Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

  4. Fetal Alcohol Syndrome and Fetal Alcohol Effects in Child Development.

    Science.gov (United States)

    Pancratz, Diane R.

    This literature review defines Fetal Alcohol Syndrome (FAS) and Fetal Alcohol Effects (FAE) and considers their causes, diagnoses, prevalence, and educational ramifications. Effects of alcohol during each of the trimesters of pregnancy are summarized. Specific diagnostic characteristics of FAS are listed: (1) growth deficiency, (2) a…

  5. Prenatal ultrasound diagnosis of isolated arthrogryposis of feet.

    Science.gov (United States)

    Degani, S; Shapiro, I; Lewinsky, R; Sharf, M

    1989-01-01

    Prenatal diagnosis of isolated arthrogryposis of the feet at the ankle joint was made by ultrasound and confirmed at birth. The criteria for ruling out joint contracture are absence of fixed limb deformity, and free fetal motion.

  6. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Francesca Romana Grati

    2014-07-01

    Full Text Available Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS of a prenatal diagnosis laboratory the following items are discussed: (i The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM; (ii The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-direct preparation or long term culture; and (v The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS.

  7. Effect on school performance of prenatal exposure to ionizing radiation in Hiroshima

    International Nuclear Information System (INIS)

    Otake, Masanori; Schull, W.J.; Fujikoshi, Yasunori; Yoshimaru, Hiroshi.

    1988-08-01

    As a part of the continuing assessment of the effects on the developing embryonic and fetal brain of exposure to ionizing radiation, the school performances of prenatally exposed survivors of the atomic bombing of Hiroshima and a suitable comparison group have been studied. In this report, the changes in performance in seven school subjects according to dose are compared under the T65DR dosimetry heretofore used by ABCC-RERF, and the new dosimetry (DS86) installed in 1986. Those survivors with school performance records but without T65DR doses, or not exposed in utero, or without school records are excluded. Thus, the T65DR study group consists of 1,090 children, including 14 clinically diagnosed cases of mental retardation. The findings can be summarized as follows: Damage to the 8-15 week fetal brain appears to be lincarly related to the fetal absorbed dose, as judged by the simple regression of average school performance score on dose. This is so for both the T65DR study group and the DS86 sample with or without the 14 cases of retardation. Damage to the fetus exposed at 16-25 weeks after fertilization appears similar to that seen in the 8-15 week group. Canonical and multiple correlations also show a highly significant relationship of exposure 8-15 weeks and 16-25 weeks after fertilization to achievement in school. This trend is stronger, however, in the earliest years of schooling. In the groups exposed within 0-7 weeks following fertilization, or 26 or more weeks after fertilization, there is no evidence of a radiation-related effect on scholastic performance. These results parallel those previously found in prenatally exposed survivors with respect to achievement in standard intelligence tests in childhood. (author)

  8. Fetal Primary Cardiac Tumors During Perinatal Period

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2017-06-01

    Full Text Available Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas. Neonatal cardiac surgery for the resection of primary cardiac tumors found by fetal echocardiography has been reported sporadically. However, open fetal surgery for pericardial teratoma resection, which was performed successfully via a fetal median sternotomy in one case report, could be a promising intervention to rescue these patients with large pericardial effusions. These recent achievements undoubtedly encourage further development in early management of fetal cardiac tumors. Owing to the rarity of fetal primary cardiac tumors, relevant information in terms of prenatal diagnosis, treatment, and prognosis remains to be clarified.

  9. Fetal gastrointestinal MRI: all that glitters in T1 is not necessarily colon

    Energy Technology Data Exchange (ETDEWEB)

    Colombani, Marina [La Timone Children' s Hospital, Service de Radiopediatrie, Marseille (France); Ferry, Mathilde [Groupe Rennais d' Imagerie Medicale, Service de Radiologie, Rennes (France); Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Cassart, Marie [Erasme Hospital, Medical Imaging, Brussels (Belgium); Couture, Alain [Hopital Arnaud de Villeneuve, Pediatric Radiology, Montpellier (France); Guibaud, Laurent [Hopital Femme Mere Enfant, Pediatric and Fetal Imaging, Lyon (France); Avni, Fred [Erasme Hospital, Radiology, Brussels (Belgium); Gorincour, Guillaume [La Timone Children' s Hospital, Pediatric Radiology, Marseille (France)

    2010-07-15

    It has been described that both the colon and distal ileum present with a physiological hypersignal on T1-weighted sequences during the second and third trimesters of pregnancy because of their protein-rich meconium content, it was unclear whether the normal characteristics that have been described on fetal MRI can be applied to gastrointestinal (GI) obstructions. To analyse the localisation value of T1 hypersignal within dilated bowel loops in fetuses with gastrointestinal tract obstruction. A retrospective 4-year multicentre study analysing cases of fetal GI obstruction in which MRI demonstrated T1 hypersignal content in the dilated loops. Data collected included gestational age (GA) at diagnosis, bowel appearance on US, CFTR gene mutations and amniotic levels of gastrointestinal enzymes. The suggested prenatal diagnosis was eventually compared to postnatal imaging and surgery. Eleven patients were included. The median GA at US diagnosis was 23 weeks (range 13-32). In eight cases there was a single dilated loop, while several segments were affected in three. The median GA at MRI was 29 weeks (range 23-35). One case presented with cystic fibrosis mutations. Final prenatally suspected diagnoses were distal ileal atresia or colon in nine cases and proximal atresia in two. Postnatal findings were proximal jejunal atresia in nine cases and meconium ileus in two. In five cases the surgical findings demonstrated short bowel syndrome. In cases of fetal occlusion, T1 hypersignal should not be considered as a sign of distal ileal or colonic occlusion. The obstruction may be proximal, implying a risk of small bowel syndrome, which requires adequate parental counselling. (orig.)

  10. Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

    Science.gov (United States)

    Folliot-Le Doussal, Lise; Chadie, Alexandra; Brasseur-Daudruy, Marie; Verspyck, Eric; Saugier-Veber, Pascale; Marret, Stéphane

    2018-01-01

    Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC. This is a follow-up study conducted in Normandy (France). It included a cohort of 25 children born between January 1991 and June 2016, with a prenatal diagnosis of isolated ACC and who were followed for at least two years. The average follow-up was 8±5years. ACC was complete in 17 patients (68%), partial in 5 (20%) and hypoplastic in 3 (12%). Whereas global motor development was normal in each case, normal neurodevelopmental outcome or mild disabilities occurred in 88% children and moderate/severe neuro-disabilities were present in 12% of children. Wechsler Intelligence Scale for Children-IV evaluations and Intellectual Total Quotients were within normal range, but we observed lower scores in verbal comprehension, social judgment, executive functions. A lower score in morphosyntax was observed among 52% of children with oral language disorders. Neurodevelopmental outcome was favorable in most of our patients with isolated ACC, but mild learning disabilities emerged in older children. Long-term follow-up until school age is essential to provide early diagnosis and appropriate care support. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Diagnosis of an Omphalocele with 3 Dimension Ultrasound

    Directory of Open Access Journals (Sweden)

    Vural Dagli

    2006-12-01

    Full Text Available Fetal omphalocele is a congenital defect of the abdominal wall that allows some of the abdominal organs to protrude through it. It might be associated with chromosomal abnormalities and fetal anomalies.Two dimension (2D ultrasound is the main diagnosis\tmethod. 3D ultrasound can make the diagnosis easier. In this case report we present an omphalocele diagnosed with ultrasound prenatally. We discuss the role of 2D and 3D ultrasound while diagnosing omphalocele prenatally.

  12. Fetal RHD Genotyping Using Real-Time Polymerase Chain Reaction Analysis of Cell-Free Fetal DNA in Pregnancy of RhD Negative Women in South of Iran

    Directory of Open Access Journals (Sweden)

    Leili Moezzi

    2016-05-01

    Full Text Available Background: Maternal-fetal RhD antigen incompatibility causes approximately 50% of clinically significant alloimmunization cases. The routine use of prophylactic anti-D immunoglobulin has dramatically reduced hemolytic disease of the fetus and newborn. Recently, fetal RHD genotyping in RhD negative pregnant women has been suggested for appropriate use of anti-D immunoglobulin antenatal prophylaxis and decrease unnecessary prenatal interventions. Materials and Methods: In this prospective cohort study, in order to develop a reliable and non-invasive method for fetal RHD genotyping, cell free fetal DNA (cffDNA was extracted from maternal plasma. Real-time quantitative polymerase chain reaction (qPCR for detection of RHD exons 7, 5, 10 and intron 4 was performed and the results were compared to the serological results of cord blood cells as the gold standard method. SRY gene and hypermethylated Ras-association domain family member 1 (RASSF1A gene were used to confirm the presence of fetal DNA in male and female fetuses, respectively. Results: Out of 48 fetuses between 8 and 32 weeks (wks of gestational age (GA, we correctly diagnosed 45 cases (93.75% of RHD positive fetuses and 2 cases (4.16% of the RHD negative one. Exon 7 was amplified in one sample, while three other RHD gene sequences were not detected; the sample was classified as inconclusive, and the RhD serology result after birth showed that the fetus was RhD-negative. Conclusion: Our results showed high accuracy of the qPCR method using cffDNA for fetal RHD genotyping and implicate on the efficiency of this technique to predict the competence of anti-D immunoglobulin administration.

  13. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

    Energy Technology Data Exchange (ETDEWEB)

    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor [Medical University of Vienna, Department of Biomedical Imaging and Image-guided Therapy, Vienna (Austria); Amann, Gabriele [Medical University of Vienna, Department of Clinical Pathology, Vienna (Austria); Seidl, Rainer [Medical University of Vienna, Department of Paediatrics and Adolescent Medicine, Vienna (Austria); Bettelheim, Dieter [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Center for Anatomy and Cell Biology, Vienna (Austria)

    2016-05-15

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm{sup 2}, 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

  14. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

    International Nuclear Information System (INIS)

    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Brugger, Peter C.

    2016-01-01

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm 2 , 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

  15. Fetal absorbed doses by radiopharmaceutical administration

    International Nuclear Information System (INIS)

    Rojo, Ana M; Gomez Parada, Ines M.; Di Trano, Jose L.

    2000-01-01

    The radiopharmaceutical administration with diagnostic or therapeutic purpose during pregnancy implies a prenatal radiation dose. The dose assessment and the evaluation of the radiological risks become relevant due to the great radiosensitivity of the fetal tissues in development. This paper is a revision of the available data for estimating fetal doses in the cases of the more frequently used radiopharmaceuticals in nuclear medicine, taking into account recent investigation in placental crossover. The more frequent diagnostic and therapeutic procedures were analyzed according to the radiation doses implied. (author)

  16. Impact of Oxidative Stress in Fetal Programming

    Directory of Open Access Journals (Sweden)

    Loren P. Thompson

    2012-01-01

    Full Text Available Intrauterine stress induces increased risk of adult disease through fetal programming mechanisms. Oxidative stress can be generated by several conditions, such as, prenatal hypoxia, maternal under- and overnutrition, and excessive glucocorticoid exposure. The role of oxidant molecules as signaling factors in fetal programming via epigenetic mechanisms is discussed. By linking oxidative stress with dysregulation of specific target genes, we may be able to develop therapeutic strategies that protect against organ dysfunction in the programmed offspring.

  17. Prenatal MR imaging of congenital diaphragmatic hernias: association of MR fetal lung volume with the need for postnatal prosthetic patch repair

    Energy Technology Data Exchange (ETDEWEB)

    Hagelstein, Claudia; Weidner, Meike; Schoenberg, Stefan O.; Buesing, Karen A.; Neff, K.W. [University of Heidelberg, Institute of Clinical Radiology and Nuclear Medicine, University Medical Center Mannheim, Mannheim (Germany); Zahn, Katrin [University of Heidelberg, Department of Pediatric Surgery, University Medical Center Mannheim, Mannheim (Germany); Weiss, Christel [University of Heidelberg, Department of Medical Statistics and Biomathematics, University Medical Center Mannheim, Mannheim (Germany); Schaible, Thomas [University of Heidelberg, Department of Pediatrics, University Medical Center Mannheim, Mannheim (Germany)

    2015-01-15

    To assess whether the need for postnatal prosthetic patch repair of the diaphragmatic defect in neonates with a congenital diaphragmatic hernia (CDH) is associated with the antenatal measured observed-to-expected magnetic resonance fetal lung volume (o/e MR-FLV). The o/e MR-FLV was calculated in 247 fetuses with isolated CDH. Logistic regression analysis was used to assess the prognostic value of the individual o/e MR-FLV for association with the need for postnatal patch repair. Seventy-seven percent (77 %) of patients with a CDH (190/247) required prosthetic patch repair and the defect was closed primarily in 23 % (57/247). Patients requiring a patch had a significantly lower o/e MR-FLV (27.7 ± 10.2 %) than patients with primary repair (40.8 ± 13.8 %, p < 0.001, AUC = 0.786). With an o/e MR-FLV of 20 %, 92 % of the patients required patch repair, compared to only 24 % with an o/e MR-FLV of 60 %. The need for a prosthetic patch was further influenced by the fetal liver position (herniation/no herniation) as determined by magnetic resonance imaging (MRI; p < 0.001). Fetal liver position, in addition to the o/e MR-FLV, improves prognostic accuracy (AUC = 0.827). Logistic regression analysis based on the o/e MR-FLV is useful for prenatal estimation of the prosthetic patch requirement in patients with a CDH. In addition to the o/e MR-FLV, the position of the liver as determined by fetal MRI helps improve prognostic accuracy. (orig.)

  18. Prenatal ultrasonographic findings of multicystic dysplastic kidney: Emphasis on cyst distribution

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Min Hoan; Cho, Jeong Yeon [Samsung Cheil Hospital, Sungkunkwan University school of Medicine, Seoul (Korea, Republic of)

    2003-09-15

    To characterize the ultrasonographic findings of multicystic dysplastic kidney on prenatal ultrasonography (US) with a special emphasis on the distribution of cysts. From January 1998 to March 2003, medical records of sixty two subjects with multicystic dysplastic kidney diagnosed on prenatal US examination were retrospectively reviewed, and forty three patients confirmed either by pathology or postnatal follow-up US were selected for this study. US assessment included the time of diagnosis, laterality, size of the multicystic dysplastic and contralateral normal kidneys, distribution of cysts and associated anomalies. The distribution of cysts was categorized as subcapsular and random distribution, and interobserver agreement was determined using the cross table analysis. The largest multicystic and contralateral normal longitudinal diameters were measured, and the data were plotted on the normal reference chart. Multicystic dysplastic kidney was left sided in 55.8%, right sided in 34.8% and bilateral in 9.3%. Subcapsular distribution of cysts was observed in 68.2% (n=15) for radiologist 1 while 59.1% (n=13) for radiologist 2, showing an excellent interobserver agreement (k=0.697). The longitudinal diameter of the multicystic dysplastic kidney was above 95 percentile in 68%. Meanwhile, the diameter of the contralateral normal kidney was more commonly normal, 70%. Fetal karyotyping was done in 18 cases including 2 cases with associated major anomalies, but karyotyping was all normal. On prenatal US, subcapsular distribution of cysts in multicystic dysplastic kidney is more common than random distribution. This characteristic distribution of cysts may be helpful in the prenatal diagnosis of multicystic dysplastic kidney.

  19. Prenatal ultrasonographic findings of multicystic dysplastic kidney: Emphasis on cyst distribution

    International Nuclear Information System (INIS)

    Moon, Min Hoan; Cho, Jeong Yeon

    2003-01-01

    To characterize the ultrasonographic findings of multicystic dysplastic kidney on prenatal ultrasonography (US) with a special emphasis on the distribution of cysts. From January 1998 to March 2003, medical records of sixty two subjects with multicystic dysplastic kidney diagnosed on prenatal US examination were retrospectively reviewed, and forty three patients confirmed either by pathology or postnatal follow-up US were selected for this study. US assessment included the time of diagnosis, laterality, size of the multicystic dysplastic and contralateral normal kidneys, distribution of cysts and associated anomalies. The distribution of cysts was categorized as subcapsular and random distribution, and interobserver agreement was determined using the cross table analysis. The largest multicystic and contralateral normal longitudinal diameters were measured, and the data were plotted on the normal reference chart. Multicystic dysplastic kidney was left sided in 55.8%, right sided in 34.8% and bilateral in 9.3%. Subcapsular distribution of cysts was observed in 68.2% (n=15) for radiologist 1 while 59.1% (n=13) for radiologist 2, showing an excellent interobserver agreement (k=0.697). The longitudinal diameter of the multicystic dysplastic kidney was above 95 percentile in 68%. Meanwhile, the diameter of the contralateral normal kidney was more commonly normal, 70%. Fetal karyotyping was done in 18 cases including 2 cases with associated major anomalies, but karyotyping was all normal. On prenatal US, subcapsular distribution of cysts in multicystic dysplastic kidney is more common than random distribution. This characteristic distribution of cysts may be helpful in the prenatal diagnosis of multicystic dysplastic kidney.

  20. Prenatal meditation influences infant behaviors.

    Science.gov (United States)

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (pmeditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (pmeditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  1. Nicotine-induced retardation of chondrogenesis through down-regulation of IGF-1 signaling pathway to inhibit matrix synthesis of growth plate chondrocytes in fetal rats

    International Nuclear Information System (INIS)

    Deng, Yu; Cao, Hong; Cu, Fenglong; Xu, Dan; Lei, Youying; Tan, Yang; Magdalou, Jacques; Wang, Hui; Chen, Liaobin

    2013-01-01

    Previous studies have confirmed that maternal tobacco smoking causes intrauterine growth retardation (IUGR) and skeletal growth retardation. Among a multitude of chemicals associated with cigarette smoking, nicotine is one of the leading candidates for causing low birth weights. However, the possible mechanism of delayed chondrogenesis by prenatal nicotine exposure remains unclear. We investigated the effects of nicotine on fetal growth plate chondrocytes in vivo and in vitro. Rats were given 2.0 mg/kg·d of nicotine subcutaneously from gestational days 11 to 20. Prenatal nicotine exposure increased the levels of fetal blood corticosterone and resulted in fetal skeletal growth retardation. Moreover, nicotine exposure induced the inhibition of matrix synthesis and down-regulation of insulin-like growth factor 1 (IGF-1) signaling in fetal growth plates. The effects of nicotine on growth plates were studied in vitro by exposing fetal growth plate chondrocytes to 0, 1, 10, or 100 μM of nicotine for 10 days. Nicotine inhibited matrix synthesis and down-regulated IGF-1 signaling in chondrocytes in a concentration-dependent manner. These results suggest that prenatal nicotine exposure induces delayed chondrogenesis and that the mechanism may involve the down-regulation of IGF-1 signaling and the inhibition of matrix synthesis by growth plate chondrocytes. The present study aids in the characterization of delayed chondrogenesis caused by prenatal nicotine exposure, which might suggest a candidate mechanism for intrauterine origins of osteoporosis and osteoarthritis. - Highlights: ► Prenatal nicotine-exposure could induce delayed chondrogenesis in fetal rats. ► Nicotine inhibits matrix synthesis of fetal growth plate chondrocytes. ► Nicotine inhibits IGF-1 signaling pathway in fetal growth plate chondrocytes

  2. Nicotine-induced retardation of chondrogenesis through down-regulation of IGF-1 signaling pathway to inhibit matrix synthesis of growth plate chondrocytes in fetal rats

    Energy Technology Data Exchange (ETDEWEB)

    Deng, Yu; Cao, Hong; Cu, Fenglong [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Xu, Dan [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan 430071 (China); Lei, Youying [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Tan, Yang [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China); Magdalou, Jacques [UMR 7561 CNRS-Nancy Université, Faculté de Médicine, Vandoeuvre-lès-Nancy (France); Wang, Hui [Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan 430071 (China); Research Center of Food and Drug Evaluation, Wuhan University, Wuhan 430071 (China); Chen, Liaobin, E-mail: lbchen@whu.edu.cn [Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071 (China)

    2013-05-15

    Previous studies have confirmed that maternal tobacco smoking causes intrauterine growth retardation (IUGR) and skeletal growth retardation. Among a multitude of chemicals associated with cigarette smoking, nicotine is one of the leading candidates for causing low birth weights. However, the possible mechanism of delayed chondrogenesis by prenatal nicotine exposure remains unclear. We investigated the effects of nicotine on fetal growth plate chondrocytes in vivo and in vitro. Rats were given 2.0 mg/kg·d of nicotine subcutaneously from gestational days 11 to 20. Prenatal nicotine exposure increased the levels of fetal blood corticosterone and resulted in fetal skeletal growth retardation. Moreover, nicotine exposure induced the inhibition of matrix synthesis and down-regulation of insulin-like growth factor 1 (IGF-1) signaling in fetal growth plates. The effects of nicotine on growth plates were studied in vitro by exposing fetal growth plate chondrocytes to 0, 1, 10, or 100 μM of nicotine for 10 days. Nicotine inhibited matrix synthesis and down-regulated IGF-1 signaling in chondrocytes in a concentration-dependent manner. These results suggest that prenatal nicotine exposure induces delayed chondrogenesis and that the mechanism may involve the down-regulation of IGF-1 signaling and the inhibition of matrix synthesis by growth plate chondrocytes. The present study aids in the characterization of delayed chondrogenesis caused by prenatal nicotine exposure, which might suggest a candidate mechanism for intrauterine origins of osteoporosis and osteoarthritis. - Highlights: ► Prenatal nicotine-exposure could induce delayed chondrogenesis in fetal rats. ► Nicotine inhibits matrix synthesis of fetal growth plate chondrocytes. ► Nicotine inhibits IGF-1 signaling pathway in fetal growth plate chondrocytes.

  3. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

    2017-01-01

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  4. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

    2017-12-15

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  5. A brief history of fetal echocardiography and its impact on the management of congenital heart disease.

    Science.gov (United States)

    Maulik, Dev; Nanda, Navin C; Maulik, Devika; Vilchez, Gustavo

    2017-12-01

    Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging. Collaboration between clinicians and engineers has been central to these advances. Also discussed are the accuracy and impact of fetal echocardiography on the management of CHD, and especially its role in the prenatal diagnosis of critical CHD in individualizing the management and improving the outcome. Despite these advances, most cases of CHD are not identified prenatally, emphasizing the continuing need for further technological and educational innovation and improvement. © 2017, Wiley Periodicals, Inc.

  6. Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.

    Science.gov (United States)

    Cope, Heidi; Garrett, Melanie E; Gregory, Simon; Ashley-Koch, Allison

    2015-08-01

    The aim of the article is to examine the psychological impact, specifically symptoms of grief, post-traumatic stress and depression, in women and men who either terminated or continued a pregnancy following prenatal diagnosis of a lethal fetal defect. This project investigated a diagnostically homogeneous group composed of 158 women and 109 men who lost a pregnancy to anencephaly, a lethal neural tube defect. Participants completed the Perinatal Grief Scale, Impact of Event Scale - Revised and Beck Depression Inventory-II, which measure symptoms of grief, post-traumatic stress and depression, respectively. Demographics, religiosity and pregnancy choices were also collected. Gender-specific analysis of variance was performed for instrument total scores and subscales. Women who terminated reported significantly more despair (p = 0.02), avoidance (p = 0.008) and depression (p = 0.04) than women who continued the pregnancy. Organizational religious activity was associated with a reduction in grief (Perinatal Grief Scale subscales) in both women (p = 0.02, p = 0.04 and p = 0.03) and men (p = 0.047). There appears to be a psychological benefit to women to continue the pregnancy following a lethal fetal diagnosis. Following a lethal fetal diagnosis, the risks and benefits, including psychological effects, of termination and continuation of pregnancy should be discussed in detail with an effort to be as nondirective as possible. © 2015 John Wiley & Sons, Ltd.

  7. Fetal karyotype: can we always trust its result?

    Directory of Open Access Journals (Sweden)

    Carolina Leite Drummond

    2008-09-01

    Full Text Available We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after birth. In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Discrepant findings between fetal karyotype results and sonographic findings require great caution in their interpretation and counseling of parents. Placental confined mosaicism seems to be the most frequent cause of such discrepant results. The interpretation of fetal karyotype results should always be correlated with sonographic and clinical findings.

  8. [Clinical analysis of prenatal diagnosis and intervention for primary pleural effusion of 13 cases].

    Science.gov (United States)

    Wang, X Q; Li, W J; Yan, R L; Xiang, J W; Liu, M Y

    2018-02-25

    Objective: To optimize the clinical managements of primary fetal hydrothorax (PFHT) fetus by comparing the perinatal survival rate of different prenatal treatments. Methods: Totally 13 fetuses diagnosed with PFHT from July 2009 to December 2015 in the First Affiliated Hospital of Jinan University were collected and received prenatal expectant treatment, thoracocentesis (TC), and thoraco-amniotic shunting (TAS), respectively. The perinatal survival rate was compared among the three treatments. Results: Among 13 fetuses of PFHT, pleural effusion was absorbed or remained stable in 2(2/13) cases, and progressed in 11(11/13) cases. Six cases received expectant treatment (2 cases had termination of pregnancy due to progressing effusion, 2 cases had term delivery, and 2 cases had intrauterine death); the perinatal survival rate was 2/6. Six cases received TC (2 cases had term delivery, 2 cases had preterm delivery, and 2 cases had termination of pregnancy due to progressing effusion), the perinatal survival rate was 4/6. One case received TC+TAS (term delivery), the perinatal survival rate was 1/1. The overall perinatal survival rate of prenatal intrauterine intervention was 5/7. Conclusions: The clinical process of PFHT is changeable, and the pleural effusion will progress with gestational age. Intrauterine interventions could improve the perinatal survival rate.

  9. Fetal ventriculomegalies during pregnancy course, outcome, and psychomotor development of born children.

    Science.gov (United States)

    Dukanac Stamenkovic, J; Steric, M; Srbinovic, L; Janjic, T; Vrzic Petronijevic, S; Petronijevic, M; Cetkovic, A

    2016-01-01

    The objectives of this study were as follows: to present the course and outcome of pregnancies complicated with fetal ventriculomegaly, determine the association between prenatal ultrasound diagnoses and definitive postnatal diagnosis or diagnoses after autopsy and additional analysis, and to monitor the psychomotor development of children born with ventriculomegaly. The survey was designed as retrospective study and included 62 pregnant women who were attending a regular ultrasound examinations at the Department of Gynecology and Obstetrics, Clinical Center of Serbia, or patients who were referred from other institutions in Serbia. Ventriculomegalies were divided into three groups: mild, moderate, and severe or hydrocephalus. The most common were severe ventriculomegalies, with 34 cases (55%). Of all pregnancies complicated with ventriculomegalies, 61% were terminated. Among those continued, 88% had normal psychomotor development. In 97% ultrasonographic diagnosis was confirmed. Majority of pregnancies complicated with ventriculomegaly were continued and most of the children born with anomalies had normal psychomotor development.

  10. Maternal Fetal Attachment, Locus of Control and Adherence to STI/HIV Prevention and Prenatal Care Promotion Behaviors in Urban Women.

    Science.gov (United States)

    Kornfield, Sara L; Geller, Pamela A; Epperson, C Neill

    Young women of childbearing age are disproportionately affected by sexually transmitted infections (STIs) including HIV. In particular, young women have more frequent and more serious health problems from STI or HIV infection than men, and among women, African American women have especially high rates of infection. Pregnancy is an important time for beginning or continued STI and HIV prevention behaviors as discontinuing condom use when the contraceptive motivation is gone puts women and their fetuses at risk for contraction of STIs and HIV if they remain sexually active. There are many personal attributes that predict adherence to STI risk reduction behaviors including health related locus of control. The current study surveyed a group of 100 low-income, urban dwelling minority women during their pregnancies to determine whether maternal-fetal attachment, a characteristic specific to pregnancy, favorably influences pregnant women's health related locus of control such that women might be more inclined to engage in preventative STI/HIV risk reduction behaviors. Our findings revealed that while our sample has very high levels of MFA despite the high rate of unplanned pregnancy, condom use is not the method used to reduce the risk of contracting STIs/HIV. Rather, women are more likely to limit their number of sexual partners during pregnancy. While this is beneficial, pregnant women in non-monogamous relationships may discount the importance of condom use during pregnancy. Prenatal care providers can provide education about condom use as a beneficial prenatal care behavior similar to taking prenatal vitamins.

  11. Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited.

    Science.gov (United States)

    Levaillant, J M; Touboul, C; Sinico, M; Vergnaud, A; Serero, S; Druart, L; Blondeau, J R; Abd Alsamad, I; Haddad, B; Gérard-Blanluet, M

    2005-12-01

    Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation. Copyright 2005 John Wiley & Sons, Ltd

  12. Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

    Science.gov (United States)

    Piro, Ettore; Piccione, Maria; Marrone, Gianluca; Giuffrè, Mario; Corsello, Giovanni

    2013-05-14

    Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.

  13. RE-AIM evaluation of the Alcohol and Pregnancy Project: educational resources to inform health professionals about prenatal alcohol exposure and fetal alcohol spectrum disorder.

    Science.gov (United States)

    Payne, Janet M; France, Kathryn E; Henley, Nadine; D'Antoine, Heather A; Bartu, Anne E; O'Leary, Colleen M; Elliott, Elizabeth J; Bower, Carol; Geelhoed, Elizabeth

    2011-03-01

    The objective was to evaluate the Alcohol and Pregnancy Project that provided health professionals in Western Australia (WA) with educational resources to inform them about prevention of prenatal alcohol exposure and fetal alcohol spectrum disorder (FASD). The authors developed, produced, and distributed educational resources to 3,348 health professionals in WA. Six months later, they surveyed 1,483 of these health professionals. The authors used the RE-AIM framework (reach, effectiveness, adoption, implementation, and maintenance) to evaluate the project. The educational resources were effective in producing a 31% increase in the proportion of health professionals who routinely provided pregnant women with information about the consequences of drinking alcohol during pregnancy. One hundred percent of the settings adopted the project, it reached 96.3% of the target population, it was implemented as intended, and the resources were maintained (http://www.ichr.uwa.edu.au/alcoholandpregnancy). The educational resources for health professionals have potential to contribute to reducing prenatal alcohol exposure and FASD.

  14. Neonatal outcomes in fetuses with cardiac anomalies and the impact of delivery route.

    Science.gov (United States)

    Parikh, Laura I; Grantz, Katherine L; Iqbal, Sara N; Huang, Chun-Chih; Landy, Helain J; Fries, Melissa H; Reddy, Uma M

    2017-10-01

    Congenital fetal cardiac anomalies compromise the most common group of fetal structural anomalies. Several previous reports analyzed all types of fetal cardiac anomalies together without individualized neonatal morbidity outcomes based on cardiac defect. Mode of delivery in cases of fetal cardiac anomalies varies greatly as optimal mode of delivery in these complex cases is unknown. We sought to determine rates of neonatal outcomes for fetal cardiac anomalies and examine the role of attempted route of delivery on neonatal morbidity. Gravidas with fetal cardiac anomalies and delivery >34 weeks, excluding stillbirths and aneuploidies (n = 2166 neonates, n = 2701 cardiac anomalies), were analyzed from the Consortium on Safe Labor, a retrospective cohort study of electronic medical records. Cardiac anomalies were determined using International Classification of Diseases, Ninth Revision codes and organized based on morphology. Neonates were assigned to each cardiac anomaly classification based on the most severe cardiac defect present. Neonatal outcomes were determined for each fetal cardiac anomaly. Composite neonatal morbidity (serious respiratory morbidity, sepsis, birth trauma, hypoxic ischemic encephalopathy, and neonatal death) was compared between attempted vaginal delivery and planned cesarean delivery for prenatal and postnatal diagnosis. We used multivariate logistic regression to calculate adjusted odds ratio for composite neonatal morbidity controlling for race, parity, body mass index, insurance, gestational age, maternal disease, single or multiple anomalies, and maternal drug use. Most cardiac anomalies were diagnosed postnatally except hypoplastic left heart syndrome, which had a higher prenatal than postnatal detection rate. Neonatal death occurred in 8.4% of 107 neonates with conotruncal defects. Serious respiratory morbidity occurred in 54.2% of 83 neonates with left ventricular outflow tract defects. Overall, 76.3% of pregnancies with fetal

  15. Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Serdar Kütük

    2016-04-01

    Cordocentesis showed a normal 46, XY karyotype, and no deletion of chromosome 17 was detected. Post-mortem examination of the fetus confirmed prenatal US and MRI findings. Early detection of fetal microcephaly can be a sign of lissencephaly and need to be evaluated carefully with fetal MRI, and US.

  16. Emotion-based decision-making in children with fetal alcohol spectrum disorders

    OpenAIRE

    Vaurio, Linnea

    2011-01-01

    Neurobehavioral outcomes associated with prenatal alcohol exposure range from severe intellectual deficiency to subtle attention and motor deficits. Diagnosis of individuals with fetal alcohol spectrum disorders (FASD) can be challenging especially when physical markers are absent or prenatal histories are unavailable. In addition, due to neurobehavioral similarities, individuals with FASD and those with attention-deficit/hyperactivity disorder (ADHD) can be confused clinically, making differ...

  17. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Imen Hadjkacem

    2016-11-01

    Full Text Available Objective: To identify prenatal, perinatal and postnatal risk factors in children with autism spectrum disorder (ASD by comparing them to their siblings without autistic disorders. Method: The present study is cross sectional and comparative. It was conducted over a period of three months (July–September 2014. It included 101 children: 50 ASD's children diagnosed according to DSM-5 criteria and 51 unaffected siblings. The severity of ASD was assessed by the CARS. Results: Our study revealed a higher prevalence of prenatal, perinatal and postnatal factors in children with ASD in comparison with unaffected siblings. It showed also a significant association between perinatal and postnatal factors and ASD (respectively p = 0.03 and p = 0.042. In this group, perinatal factors were mainly as type of suffering acute fetal (26% of cases, long duration of delivery and prematurity (18% of cases for each factor, while postnatal factors were represented principally by respiratory infections (24%. As for parental factors, no correlation was found between advanced age of parents at the moment of the conception and ASD. Likewise, no correlation was observed between the severity of ASD and different factors. After logistic regression, the risk factors retained for autism in the final model were: male gender, prenatal urinary tract infection, acute fetal distress, difficult labor and respiratory infection. Conclusions: The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others, as determinant variables for the genesis of ASD. Resumo: Objetivo: Identificar fatores de risco pré-natal, perinatal e pós-natal em crianças com transtorno do espectro do autismo (TEA ao compará-las a irmãos sem transtornos de autismo. Método: Este estudo é transversal e comparativo. Ele foi conduzido em um per

  18. Severe fetal and neonatal hyperthyroidism years after surgical treatment of maternal Graves' disease.

    Science.gov (United States)

    Dierickx, I; Decallonne, B; Billen, J; Vanhole, C; Lewi, L; De Catte, L; Verhaeghe, J

    2014-02-01

    Fetal/neonatal hyperthyroidism is a well-known complication of maternal Graves' disease with high concentrations of TSH-receptor antibodies (TRAb). Few data are available on the management of fetal hyperthyroidism in surgically treated Graves' disease. Clinical, ultrasound and biochemical data are reported in a fetus/neonate whose mother underwent a thyroidectomy > 10 years before and whose sibling was thin and hyperthyroid at birth. Maternal TRAb were persistently > 40 U/l; unequivocal signs of fetal hyperthyroidism were identified at 29 weeks gestational age (GA). The fetus was treated through maternal antithyroid drug (ATD) administration; the dose was reduced gradually once fetal tachycardia and valve dysfunction disappeared and normal T4 was confirmed by fetal blood sampling. Maternal euthyroidism was maintained. The neonate showed normal growth for GA and T4 concentration at birth but severe hyperthyroidism relapsed from day 13 until day 58. TSH remained strongly suppressed throughout the pre- and postnatal course. Prenatal ATD in a taper-off regime allowed normal T4 and growth in a hyperthyroid fetus from a thyroidectomised Graves' mother. Fetal TSH cannot be used to adjust the ATD dose. Prenatal ATD appears to postpone the onset but does not affect the severity or duration of the neonatal hyperthyroid flare.

  19. Developmental Programming: Prenatal Testosterone Excess and Insulin Signaling Disruptions in Female Sheep.

    Science.gov (United States)

    Lu, Chunxia; Cardoso, Rodolfo C; Puttabyatappa, Muraly; Padmanabhan, Vasantha

    2016-05-01

    Women with polycystic ovary syndrome often manifest insulin resistance. Using a sheep model of polycystic ovary syndrome-like phenotype, we explored the contribution of androgen and insulin in programming and maintaining disruptions in insulin signaling in metabolic tissues. Phosphorylation of AKT, ERK, GSK3beta, mTOR, and p70S6K was examined in the liver, muscle, and adipose tissue of control and prenatal testosterone (T)-, prenatal T plus androgen antagonist (flutamide)-, and prenatal T plus insulin sensitizer (rosiglitazone)-treated fetuses as well as 2-yr-old females. Insulin-stimulated phospho (p)-AKT was evaluated in control and prenatal T-, prenatal T plus postnatal flutamide-, and prenatal T plus postnatal rosiglitazone-treated females at 3 yr of age. GLUT4 expression was evaluated in the muscle at all time points. Prenatal T treatment increased mTOR, p-p70S6K, and p-GSK3beta levels in the fetal liver with both androgen antagonist and insulin sensitizer preventing the mTOR increase. Both interventions had partial effect in preventing the increase in p-GSK3beta. In the fetal muscle, prenatal T excess decreased p-GSK3beta and GLUT4. The decrease in muscle p-GSK3beta was partially prevented by insulin sensitizer cotreatment. Both interventions partially prevented the decrease in GLUT4. Prenatal T treatment had no effect on basal expression of any of the markers in 2-yr-old females. At 3 yr of age, prenatal T treatment prevented the insulin-stimulated increase in p-AKT in liver and muscle, but not in adipose tissue, and neither postnatal intervention restored p-AKT response to insulin stimulation. Our findings provide evidence that prenatal T excess changes insulin sensitivity in a tissue- and development-specific manner and that both androgens and insulin may be involved in the programming of these metabolic disruptions. © 2016 by the Society for the Study of Reproduction, Inc.

  20. TERMINATION OF PREGNANCY FOR FETAL ANOMALIES – ANALYSIS OF CASES OVER A 4-YEAR PERIOD

    Directory of Open Access Journals (Sweden)

    Miha Lučovnik

    2018-02-01

    Full Text Available Background: The consequence of prenatal detection of fetuses with congenital anomalies is induced ter- mination of pregnancy (TOP. The analysis of the indications for TOP and the agreements between prenatal and pathohistological findings is required to assess the quality of work and the appropriateness of diagnostic procedures. Methods: This retrospective analysis involved the indications for TOP performed for congenital fetal anomalies between January 2005 and March 2009. The TOP cases were divided into two groups: the early (up to 22 week, abortion and the late (≥ 22 weeks 0/7, delivery termina- tion group. With regard to the agreement between prenatal and pathohistological postmor- tem findings, 3 groups were created: complete agreement, agreement with additional data provided by pathohistological analysis, disagreement of findings. Results: Of the 220 cases of TOP for congenital anomalies, 180 (82 % were abortion cases and 40 (18 % were labour cases. In both groups, the most frequent causes for TOP were fetal structural abnormalities that were not due to chromosomal anomalies (102 (57 % in the abortion group and 38 (95 % in the delivery group. The percentage of chromosomal/monogenic anomalies was statistically significantly higher in the abortion (43 % than in the labour group (only 5 % (p < 0.001. Pathohistological examination was performed in 172 cases. In 126 (73 % cases the agreement between prenatal ultrasound and pathohistological find- ings was complete and in 37 (22 % pathohistological findings provided additional data on congenital anomalies that did not change the prenatally made diagnosis and would not affect the management of pregnancy. In none of the cases did pathohistological findings reject the prenatally made diagnosis. Conclusions: Fetal structural anomalies are frequent cause of TOP. Pathohistological examination of the fetus confirmed the prenatal diagnosis in all the cases, whereas in one fourth of the cases it

  1. Femur-sparing pattern of abnormal fetal growth in pregnant women from New York City after maternal Zika virus infection.

    Science.gov (United States)

    Walker, Christie L; Merriam, Audrey A; Ohuma, Eric O; Dighe, Manjiri K; Gale, Michael; Rajagopal, Lakshmi; Papageorghiou, Aris T; Gyamfi-Bannerman, Cynthia; Adams Waldorf, Kristina M

    2018-05-05

    Zika virus is a mosquito-transmitted flavivirus, which can induce fetal brain injury and growth restriction following maternal infection during pregnancy. Prenatal diagnosis of Zika virus-associated fetal injury in the absence of microcephaly is challenging due to an incomplete understanding of how maternal Zika virus infection affects fetal growth and the use of different sonographic reference standards around the world. We hypothesized that skeletal growth is unaffected by Zika virus infection and that the femur length can represent an internal standard to detect growth deceleration of the fetal head and/or abdomen by ultrasound. We sought to determine if maternal Zika virus infection is associated with a femur-sparing pattern of intrauterine growth restriction through analysis of fetal biometric measures and/or body ratios using the 2014 International Fetal and Newborn Growth Consortium for the 21st Century Project and World Health Organization Fetal Growth Chart sonographic references. Pregnant women diagnosed with a possible recent Zika virus infection at Columbia University Medical Center after traveling to an endemic area were retrospectively identified and included if a fetal ultrasound was performed. Data were collected regarding Zika virus testing, fetal biometry, pregnancy, and neonatal outcomes. The 2014 International Fetal and Newborn Growth Consortium for the 21st Century Project and World Health Organization Fetal Growth Chart sonographic standards were applied to obtain Z-scores and/or percentiles for fetal head circumference, abdominal circumference, and femur length specific for each gestational week. A novel 2014 International Fetal and Newborn Growth Consortium for the 21st Century Project standard was also developed to generate Z-scores for fetal body ratios with respect to femur length (head circumference:femur length, abdominal circumference:femur length). Data were then grouped within clinically relevant gestational age strata (34 weeks) to

  2. Prenatal Exposure to the Pesticide DDT and Hypertension Diagnosed in Women before Age 50: A Longitudinal Birth Cohort Study

    Science.gov (United States)

    Cirillo, Piera M.; Terry, Mary Beth; Krigbaum, Nickilou Y.; Flom, Julie D.; Cohn, Barbara A.

    2013-01-01

    Background: Elevated levels of the pesticide DDT (dichlorodiphenyltrichloroethane) have been positively associated with blood pressure and hypertension in studies among adults. Accumulating epidemiologic and toxicologic evidence suggests that hypertension during adulthood may also be affected by earlier life and possibly the prenatal environment. Objectives: We assessed whether prenatal exposure to the pesticide DDT increases risk of adult hypertension. Methods: We examined concentrations of DDT (p,p´- and o,p´-) and its metabolite p,p´-DDE (dichlorodiphenyldichloroethylene) in prenatal serum samples from a subset of women (n = 527) who had participated in the prospective Child Health and Development Studies birth cohort in the San Francisco Bay area while they were pregnant between 1959 and 1967. We surveyed daughters 39–47 years of age by telephone interview from 2005 to 2008 to obtain information on self-reported physician-diagnosed hypertension and use of hypertensive medication. We used multivariable regression analysis of time to hypertension based on the Cox proportional hazards model to estimate relative rates for the association between prenatal DDT exposures and hypertension treated with medication in adulthood, with adjustment for potential confounding by maternal, early-life, and adult exposures. Results: Prenatal p,p´-DDT exposure was associated with hypertension [adjusted hazard ratio (aHR) = 3.6; 95% CI: 1.8, 7.2 and aHR = 2.5; 95% CI: 1.2, 5.3 for middle and high tertiles of p,p´-DDT relative to the lowest tertile, respectively]. These associations between p,p´-DDT and hypertension were robust to adjustment for independent hypertension risk factors as well as sensitivity analyses. Conclusions: These findings suggest that the association between DDT exposure and hypertension may have its origins early in development. PMID:23591545

  3. Radioimmunoassays in prenatal genetic diagnosis

    International Nuclear Information System (INIS)

    Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

    1981-01-01

    Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

  4. Rabdomioma fetal: diagnóstico prenatal y tratamiento

    Directory of Open Access Journals (Sweden)

    Juan Felipe Jaramillo Daza

    2016-09-01

    Conclusiones: Las arritmias severas y el hidrops pueden conducir a muerte fetal como consecuencia del rabdomioma cardiaco. Por tanto, se debe llevar a cabo un seguimiento continuo, además de considerar distintos diagnósticos diferenciales.

  5. Prenatal maternal cortisol concentrations predict neurodevelopment in middle childhood.

    Science.gov (United States)

    Davis, Elysia Poggi; Head, Kevin; Buss, Claudia; Sandman, Curt A

    2017-01-01

    Glucocorticoids (cortisol in humans) are the end product of the hypothalamic-pituitary-adrenocortical (HPA) axis and are proposed as a key mechanism for programming fetal brain development. The present prospective longitudinal study evaluates the association between prenatal maternal cortisol concentrations and child neurodevelopment. Participants included a low risk sample of 91 mother-child pairs. Prenatal maternal plasma cortisol concentrations were measured at 19 and 31 gestational weeks. Brain development and cognitive functioning were assessed when children were 6-9 years of age. Structural magnetic resonance imaging scans were acquired and cortical thickness was determined. Child cognitive functioning was evaluated using standardized measures (Wechsler Intelligence Scale for Children IV and Expressive Vocabulary Test, Second Edition). Higher maternal cortisol concentrations during the third trimester were associated with greater child cortical thickness primarily in frontal regions. No significant associations were observed between prenatal maternal cortisol concentrations and child cortical thinning. Elevated third trimester maternal cortisol additionally was associated with enhanced child cognitive performance. Findings in this normative sample of typically developing children suggest that elevated maternal cortisol during late gestation exert lasting benefits for brain development and cognitive functioning 6-9 years later. The benefits of fetal exposure to higher maternal cortisol during the third trimester for child neurodevelopment are consistent with the role cortisol plays in maturation of the human fetus. It is plausible that more extreme elevations in maternal cortisol concentrations late in gestation, as well as exposure to pharmacological levels of synthetic glucocorticoids, may have neurotoxic effects on the developing fetal brain. Copyright © 2016. Published by Elsevier Ltd.

  6. Fetal alcohol syndrome – causes, diagnostic criteria and prevalence

    OpenAIRE

    Agata Horecka-Lewitowicz; Piotr Lewitowicz; Olga Adamczyk-Gruszka; Dariusz Skawiński; Monika Szpringer

    2014-01-01

    Fetal alcohol syndrome (FAS) is the outcome of alcohol exposition in the prenatal period. It is irreversible. In Poland, FAS is becoming more and more common, the diagnostic tools are limited though. It is recommended to use the 4-Digit Diagnostic Code, which evaluates the 4 basic FAS symptoms: growth retardation, dysmorphic appearance, damage to the central nervous system and prenatal alcohol exposure. It has been confirmed that there is no safe amount of alcohol for a mother to drink while ...

  7. Prenatal Exposure to Autism-Specific Maternal Autoantibodies Alters Proliferation of Cortical Neural Precursor Cells, Enlarges Brain, and Increases Neuronal Size in Adult Animals.

    Science.gov (United States)

    Martínez-Cerdeño, Verónica; Camacho, Jasmin; Fox, Elizabeth; Miller, Elaine; Ariza, Jeanelle; Kienzle, Devon; Plank, Kaela; Noctor, Stephen C; Van de Water, Judy

    2016-01-01

    Autism spectrum disorders (ASDs) affect up to 1 in 68 children. Autism-specific autoantibodies directed against fetal brain proteins have been found exclusively in a subpopulation of mothers whose children were diagnosed with ASD or maternal autoantibody-related autism. We tested the impact of autoantibodies on brain development in mice by transferring human antigen-specific IgG directly into the cerebral ventricles of embryonic mice during cortical neurogenesis. We show that autoantibodies recognize radial glial cells during development. We also show that prenatal exposure to autism-specific maternal autoantibodies increased stem cell proliferation in the subventricular zone (SVZ) of the embryonic neocortex, increased adult brain size and weight, and increased the size of adult cortical neurons. We propose that prenatal exposure to autism-specific maternal autoantibodies directly affects radial glial cell development and presents a viable pathologic mechanism for the maternal autoantibody-related prenatal ASD risk factor. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  8. Fetal Intracranial Hemorrhage (Fetal Stroke: Report of Four Antenatally Diagnosed Casesand Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ying-Fen Huang

    2006-06-01

    Conclusion: This small series demonstrate that an antenatal diagnosis of fetal stroke with intraventricular hemorrhage Grades III and IV or with brain parenchymal involvement appears to be associated with poor neurologic outcome. Due to the significant neonatal neurologic impairment and potential medicolegal implications of antepartum fetal ICH, it follows that obstetricians and sonographers should be familiar with predisposing factors and typical diagnostic imaging findings of rare in utero ICH events.

  9. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak

    2008-04-01

    Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

  10. Maternal prenatal cortisol predicts infant negative emotionality in a sex-dependent manner.

    Science.gov (United States)

    Braithwaite, Elizabeth C; Pickles, Andrew; Sharp, Helen; Glover, Vivette; O'Donnell, Kieran J; Tibu, Florin; Hill, Jonathan

    2017-06-01

    Prenatal stress influences fetal developmental trajectories, which may implicate glucocorticoid mechanisms. There is also emerging evidence that effects of prenatal stress on offspring development are sex-dependent. However, little is known about the prospective relationship between maternal prenatal cortisol levels and infant behaviour, and whether it may be different in male and female infants. We sought to address this question using data from a prospective longitudinal cohort, stratified by risk. The Wirral Child Health and Development Study (WCHADS) cohort (n=1233) included a stratified random sub-sample (n=216) who provided maternal saliva samples, assayed for cortisol, at home over two days at 32weeks of pregnancy (on waking, 30-min post-waking and during the evening) and a measure of infant negative emotionality from the Neonatal Behavioural Assessment Scale (NBAS) at five weeks-of-age. General population estimates of associations among measures were obtained using inverse probability weights. Maternal prenatal cortisol sampled on waking predicted infant negative emotionality in a sex-dependent manner (interaction term, p=0.005); female infants exposed to high levels of prenatal cortisol were more negative (Beta=0.440, p=0.042), whereas male infants were less negative (Beta=-0.407, p=0.045). There was no effect of the 30-min post-waking measure or evening cortisol. Our findings add to an emerging body of work that has highlighted sex differences in fetal programming, whereby females become more reactive following prenatal stress, and males less reactive. A more complete understanding of sex-specific developmental trajectories in the context of prenatal stress is essential for the development of targeted prevention strategies. Copyright © 2017. Published by Elsevier Inc.

  11. Application of real-time PCR of sex-independent insertion-deletion polymorphisms to determine fetal sex using cell-free fetal DNA from maternal plasma.

    Science.gov (United States)

    Ho, Sherry Sze Yee; Barrett, Angela; Thadani, Henna; Asibal, Cecille Laureano; Koay, Evelyn Siew-Chuan; Choolani, Mahesh

    2015-07-01

    Prenatal diagnosis of sex-linked disorders requires invasive procedures, carrying a risk of miscarriage of up to 1%. Cell-free fetal DNA (cffDNA) present in cell-free DNA (cfDNA) from maternal plasma offers a non-invasive source of fetal genetic material for analysis. Detection of Y-chromosome sequences in cfDNA indicates presence of a male fetus; in the absence of a Y-chromosome signal a female fetus is inferred. We aimed to validate the clinical utility of insertion-deletion polymorphisms (INDELs) to confirm presence of a female fetus using cffDNA. Quantitative real-time PCR (qPCR) for the Y-chromosome-specific sequence, SRY, was performed on cfDNA from 82 samples at 6-39 gestational weeks. In samples without detectable SRY, qPCRs for eight INDELs were performed on maternal genomic DNA and cfDNA. Detection of paternally inherited fetal alleles in cfDNA negative for SRY confirmed a female fetus. Fetal sex was correctly determined in 77/82 (93.9%) cfDNA samples. SRY was detected in all 39 samples from male-bearing pregnancies, and none of the 43 female-bearing pregnancies (sensitivity and specificity of SRY qPCR is therefore 100%; 95% CI 91%-100%). Paternally inherited fetal alleles were detected in 38/43 samples with no SRY signal, confirming the presence of a female fetus (INDEL assay sensitivity is therefore 88.4%; 95% CI 74.1%-95.6%). Since paternally inherited fetal INDELs were not used in women bearing male fetuses, the specificity of INDELs cannot be calculated. Five cfDNA samples were negative for both SRY and INDELS. We have validated a non-invasive prenatal test to confirm fetal sex as early as 6 gestational weeks using cffDNA from maternal plasma.

  12. Fetal Urinary Tract Anomalies: Review of Pathophysiology, Imaging, and Management.

    Science.gov (United States)

    Mileto, Achille; Itani, Malak; Katz, Douglas S; Siebert, Joseph R; Dighe, Manjiri K; Dubinsky, Theodore J; Moshiri, Mariam

    2018-05-01

    Common fetal anomalies of the kidneys and urinary tract encompass a complex spectrum of abnormalities that can be detected prenatally by ultrasound. Common fetal anomalies of the kidneys and urinary tract can affect amniotic fluid volume production with the development of oligohydramnios or anhydramnios, resulting in fetal pulmonary hypoplasia and, potentially, abnormal development of other fetal structures. We provide an overview of common fetal anomalies of the kidneys and urinary tract with an emphasis on sonographic patterns as well as pathologic and postnatal correlation, along with brief recommendations for postnatal management. Of note, we render an updated classification of fetal abnormalities of the kidneys and urinary tract based on the presence or absence of associated urinary tract dilation. In addition, we review the 2014 classification of urinary tract dilation based on the Linthicum multidisciplinary consensus panel.

  13. Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

    International Nuclear Information System (INIS)

    Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

    1990-01-01

    Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

  14. Prenatal exposure to systemic antibacterials and overweight and obesity in Danish schoolchildren

    DEFF Research Database (Denmark)

    Mor, A; Antonsen, S; Kahlert, J

    2015-01-01

    BACKGROUND/OBJECTIVE: Prenatal exposure to antibacterials may permanently dysregulate fetal metabolic patterns via epigenetic pathways or by altering maternal microbiota. We examined the association of prenatal exposure to systemic antibacterials with overweight and obesity in schoolchildren...... admissions during pregnancy. We defined overweight and obesity among the children using standard age- and sex-specific cutoffs. We computed sex-specific adjusted prevalence ratios (aPRs) of overweight and obesity associated with exposure to prenatal antibacterials, adjusting for maternal age at delivery....... SUBJECTS/METHODS: We conducted a prevalence study among Danish schoolchildren aged 7-16 years using data from routine school anthropometric evaluations conducted during 2002-2013. Prenatal exposure to antibacterials was ascertained by using maternal prescription dispensations and infection-related hospital...

  15. Radiological evaluation of the fetal face using three-dimensional ultrasound imaging

    Directory of Open Access Journals (Sweden)

    Bäumler M

    2012-12-01

    Full Text Available Marcel Bäumler,1–3 Michèle Bigorre,1,4 Jean-Michel Faure1,51CHU Montpellier, Centre de Compétence des Fentes Faciales, Hôpital Lapeyronie, Montpellier, 2Clinique du Parc, Imagerie de la Femme, Castelnau-le-Lez, 3Cabinet de Radiologie du Trident, Lunel, 4CHU Service de Chirurgie Plastique Pédiatrique, Hôpital Lapeyronie, Montpellier, 5CHU Montpellier, Service de Gynécologie-Obstétrique, Hôpital Arnaud de Villeneuve, Montpellier, FranceAbstract: This paper reviews screening and three-dimensional diagnostic ultrasound imaging of the fetal face. The different techniques available for analyzing biometric and morphological items of the profile, eyes, ears, lips, and hard and soft palate are commented on and briefly compared with the respective bi-dimensional techniques. The available literature supports the use of three-dimensional ultrasound in difficult prenatal diagnostic conditions because of its diagnostic accuracy, enabling improved safety of perinatal care. Globally, a marked increase has been observed in the accuracy of three-dimensional ultrasound in comparison with the bi-dimensional approach. Because there is no consensus about the performance of the different three-dimensional techniques, future studies are needed in order to compare them and to find the best technique for analysis of each of the respective facial elements. Universal prenatal standards may integrate these potential new findings in the future. At this time, the existing guidelines for prenatal facial screening should not be changed.Keywords: prenatal three-dimensional ultrasound, prenatal screening, prenatal diagnosis, cleft lip and palate, fetal profile, retrognathism

  16. Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

    Science.gov (United States)

    Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

    1977-01-01

    Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

  17. [Innovative Prenatal Testing: Clinical Applications and Ethical Considerations].

    Science.gov (United States)

    Huang, Mei-Chih; Lin, Shio-Jean; Chen, Chih-Ling; Huang, Tzu-Jung

    2017-10-01

    The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy. The following questions should be considered when applying cfDNA screening in clinical practice: 1. what is cfDNA screening, 2. who are its potential users, and 3. what ethical and policy considerations are associated with this examination? This article provides relevant information, clinical practice guidelines, and ethical / policy considerations related to cfDNA screening. Discussing cases involving different clinical situations helps promote understanding of cfDNA screening and maternal-care quality.

  18. Effect of prenatal peroxisome proliferator-activated receptor α (PPARα) agonism on postnatal development

    International Nuclear Information System (INIS)

    Palkar, Prajakta S.; Anderson, Cherie R.; Ferry, Christina H.; Gonzalez, Frank J.; Peters, Jeffrey M.

    2010-01-01

    Recent work indicates that PPARα is required for perfluorooctanoic acid (PFOA)-induced postnatal lethality resulting from prenatal exposure. The present study tested the hypothesis that relatively modest activation of PPARα during prenatal development will cause postnatal lethality, similar to that observed with PFOA, a relatively low affinity PPARα agonist. Female wild-type and Pparα-null mice were mated overnight with males of the same genotype. The presence of a copulatory plug on the morning after mating was indicative of pregnancy and considered gestation day (GD) 0. Plugged female mice were fed either a control diet or one containing clofibrate (0.5%) or Wy-14,643 (0.005%) until GD18 or until parturition. Mice were examined on GD18 or on postnatal day (PND) 20 following the prenatal exposure period. Dietary administration of clofibrate or Wy-14,643 did not affect maternal weight or weight gain, the average number of implantations, the percentage of litter loss, the average number of live/dead fetuses, average crown-rump length, or the average fetal weight on GD18 in either genotype. An increase in relative maternal liver weight and elevated expression of PPARα target genes in maternal and fetal livers on GD18 were observed, indicative of PPARα-dependent changes in both the maternal and fetal compartments. However, no defects in postnatal development were observed by either clofibrate or Wy-14,643 in either genotype by PND20. These results demonstrate that relatively low level activation of PPARα by clofibrate or Wy-14,643 during prenatal development does not cause postnatal lethality.

  19. The role of magnetic resonance imaging in fetal intervention and management

    International Nuclear Information System (INIS)

    Fink, A.M.

    2002-01-01

    Full text: The purpose of this poster is to illustrate the ability of magnetic resonance imaging (MRI) to provide detailed anatomical information in the assessment of fetal anomalies, and the role this information plays in planning maternal and fetal management and treatment. Between November 1999 and June 2001, 41 fetal MRI examinations were performed on 34 patients at the Royal Children's Hospital. The patients were referred for further imaging by neonatologists and paediatric specialists, who had been consulted following an anomaly being detected on routine obstetric ultrasound. Gestational age ranged between 19 and 36 weeks, with a mean gestational age on presentation of 23.5 weeks. All the patients were scanned with high-resolution single shot fast spin echo (SSFSE) T2 weighted sequences, in multiple planes, using a 1.5 Tesla GE LX Echo-speed magnet. Fetal MRI confirmed the diagnosis in 10 cases, added to the ultrasound diagnosis or confirmed a differential diagnosis in 11 cases, and altered the diagnosis in 9 cases (of which 4 were shown to be normal variants). MRI was able to make the diagnosis in 1 case (cervical teratoma), and guided perinatal intervention in 4 cases (1 cervical teratoma, 1 sacrococcygeal teratoma, 1 vein of Galen aneurysm, and 1 case of conjoint twins). In all of the cases to date, MR imaging has provided useful information, particularly in the area of parental counselling, and for practitioners providing fetal management options. While ultrasound remains the screening modality of choice for fetal imaging, the introduction of ultra-fast imaging sequences has dramatically improved the ability of MRI to evaluate fetal anomalies. MRI, with its excellent soft tissue contrast, large field of view, and multiplanar capabilities, frequently provides invaluable additional and complementary information to ultrasound. This is proving particularly useful in the pre-natal management and counselling, the planning of antenatal and peripartum

  20. Fetal Ovarian Cysts Diagnosed During Prenatal Ultrasound Screening

    Directory of Open Access Journals (Sweden)

    K. Emre Karaşahin

    2008-06-01

    Conclusion: Although FOCs are not usually life-threatening, the risk of losing the ovaries due to torsion during the neonatal period and the resulting sexual development disorders and infertility are very disturbing. [Taiwan J Obstet Cynecol 2008;47(2:215-217

  1. Prenatal, perinatal and postnatal factors associated with autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Imen Hadjkacem

    2016-11-01

    Conclusions: The present survey confirms the high prevalence of prenatal, perinatal and postnatal factors in children with ASD and suggests the intervention of some of these factors (acute fetal distress and difficult labor, among others, as determinant variables for the genesis of ASD.

  2. Prenatal x-ray exposure and childhood cancer in twins

    International Nuclear Information System (INIS)

    Harvey, E.B.; Boice, J.D. Jr.; Honeyman, M.; Flannery, J.T.

    1985-01-01

    A case-control study was conducted to investigate the relation between prenatal exposure to x-rays and childhood cancer, including leukemia, in over 32,000 twins born in Connecticut from 1930 to 1969. Twins as opposed to single births were chosen for study to reduce the likelihood of medical selection bias, since twins were often exposed to x-rays to diagnose the twin pregnancy or to determine fetal positioning before delivery and not because of medical conditions that may conceivably pre-dispose to cancer. Each of 31 incident cases of cancer, identified by linking the Connecticut twin and tumor registries, was matched with four twin controls according to sex, year of birth, and race. Records of hospitals, radiologists, and private physicians were searched for histories of x-ray exposure and other potentially important risk factors. Documented prenatal x-ray exposures were found for 39 per cent of the cases (12 of 31) and for 26 per cent of the controls (28 of 109). No other pregnancy, delivery, or maternal conditions were associated with cancer risk except low birth weight: 38 per cent of the cases as compared with 25 per cent of the controls weighed under 2.27 kg at birth. When birth weight was adjusted for, twins in whom leukemia or other childhood cancer developed were twice as likely to have been exposed to x-rays in utero as twins who were free of disease (relative risk, 2.4; 95 per cent confidence interval, 1.0 to 5.9). The results, though based on small numbers, provide further evidence that low-dose prenatal irradiation may increase the risk of childhood cancer

  3. Maternal-fetal communication of circadian phase in a precocious rodent, the spiny mouse

    International Nuclear Information System (INIS)

    Weaver, D.R.; Reppert, S.M.

    1987-01-01

    The development of circadian rhythms was examined in a precocious rodent species, the spiny mouse. Spiny mouse pups born and reared in constant darkness expressed robust circadian rhythms in locomotor activity as early as day 5 of live. Free-running activity rhythms of pups born and reared in constant darkness were coordinated with the dam on the day of birth. Postnatal maternal influences on pup rhythmicity are minimal in this species, as pups fostered on the day of birth to dams whose circadian phases were opposite to the pups' original dams were coordinated with their original dams on the day of birth. Studies using 2-deoxy-D-[1- 14 C]-glucose authoradiography showed that there were synchronous (coordinated) rhythms in metabolic activity in the maternal and fetal suprachiasmatic nuclei, directly demonstrating prenatal coordination of maternal and fetal rhythmicity. Maternal-fetal coordination of circadian phase was not the result of direct entrainment of the fetuses to the environmental light-dark cycle. These results demonstrate that there is prenatal communication of circadian phase in this precocious species, without demonstrable postnatal maternal influences on pup circadian rhythmicity. Spiny mice therefore represent an important animal model in which circadian rhythms in the postnatal period can be used to precisely assess prenatal influences on circadian phase

  4. CONGENITAL MALFORMATIONS: PRENATAL DIAGNOSTICS AND NOVEL CONCEPTION OF MEDICAL HELP TO NEWBORNS

    Directory of Open Access Journals (Sweden)

    Yu.F. Isakov

    2007-01-01

    Full Text Available Current views on basic prenatal diagnostics techniques, as ultrasound, maternal serum biochemical markers (alpha fetoprotein, human chorionic gonadotropin, and unconjugated estriol, and fetal biologic material (chorionic villus sampling, placenta, amniotic liquid, fetal blood, obtained with invasive techniques (chorion biopsy, amniocentesis, cordocentesis, its' efficacy and possible practical application are given in the article. These new conception announce to consolidate three branches providing maternal and children — welfare should consolidate maternal welfare outpatient clinics, maternal hospital and newborn surgery hospital — into one institute, thus allowing to success work of all stages, to avoid transportation and late surgical treatment, to reduce lethal outcomes following surgical treatment of congenital malformations. Primary results of implementation of this conception are presented in the article.Key words: prenatal diagnostics, newborns, congenital mal formations, prevention and prophylactics, diagnostics.

  5. Correlation between pre-pregnancy body mass index and maternal visceral adiposity with fetal biometry during the second trimester.

    Science.gov (United States)

    Lopes, Karina R M; Souza, Alex Sandro R; Figueiroa, José N; Alves, João Guilherme B

    2017-08-01

    To determine the correlation between pre-pregnancy body mass index (BMI) and maternal visceral adiposity with fetal biometry during the second trimester. A cross-sectional observational study was conducted among pregnant women who received prenatal care at a center in Recife, Brazil, between October 3, 2011, and September 27, 2013. Pre-pregnancy BMI was determined at the first prenatal care visit. Maternal visceral adiposity and fetal biometry were measured at the same ultrasonography session. The associations between maternal and fetal variables were evaluated using the Pearson correlation coefficient (R). The Student t test was used to test the null hypothesis of adjusted correlation coefficients. Overall, 740 women were included. No correlation was found between pre-pregnancy BMI and any of the fetal biometric variables assessed. By contrast, maternal visceral adiposity positively correlated with fetal abdominal circumference (R=0.529), estimated fetal weight (R=0.524), head circumference (R=0.521), femur length (R=0.521), and biparietal diameter (R=0.524; Ppregnancy length. Maternal visceral adiposity, but not pre-pregnancy BMI, positively correlated with fetal biometry during the second trimester. © 2017 International Federation of Gynecology and Obstetrics.

  6. Prenatal intraventricular hemorrhage in a term infant with congenital ...

    African Journals Online (AJOL)

    Intraventricular hemorrhage (IVH) occurs rarely in term infant, since subependymal area is a transient structure in fetal life. IVH in term infant indicates generally that it happened prenatally. Congenital cytomegalovirus (CMV) infection is frequent, occurring in 1% of live births. It is a severe infection leading to developmental ...

  7. Postnatal cranial ultrasonographic findings in feto-fetal transfusion syndrome.

    NARCIS (Netherlands)

    Breysem, L.; Naulaers, G.; Deprest, J.; Schoubroeck, D.V.; Daniels, H.; Lammens, M.M.Y.; Smet, M.H.

    2002-01-01

    Our objective was a retrospective evaluation of cranial US in survivors of twin pregnancy with feto-fetal transfusion syndrome (FFTS), with knowledge of prenatal treatment and neonatal/postnatal clinical data. In 18 pregnancies with FFTS (January 1996 to May 2000), pregnancy management and outcome,

  8. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

    Science.gov (United States)

    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  9. Application of a novel prenatal vertical cranial biometric measurement can improve accuracy of microcephaly diagnosis in utero.

    Science.gov (United States)

    Leibovitz, Z; Shiran, C; Haratz, K; Tamarkin, M; Gindes, L; Schreiber, L; Malinger, G; Ben-Sira, L; Lev, D; Shapiro, I; Bakry, H; Weizman, B; Zreik, A; Kidron, D; Egenburg, S; Arad, A; Lerman-Sagie, T

    2016-05-01

    To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic-like head deformation. A new vertical cranial biometric measurement was defined: the foramen magnum-to-cranium distance (FCD), measured between the foramen magnum and the upper inner cranial border along the posterior wall of the brainstem. The measurement was performed in a precise mid-sagittal plane using a three-dimensional multiplanar display of a sagittally acquired sonographic volume of the fetal head. The normal reference range was developed by measuring 396 healthy fetuses of low-risk singleton pregnancies between 15 and 40 gestational weeks. This reference was applied to 25 fetuses with microcephaly diagnosed prenatally (Fmic) based on HC ≥ 3 SD below the mean for gestational age. We determined an optimal FCD cut-off for combination with HC to detect all cases found with microcephaly at birth (micB), while excluding the fetuses with normal head circumference at birth (NHCB), who were described postnatally as having an acrocephalic-like cranial deformation. In the healthy singleton fetuses, FCD increased with gestational age, with a quadratic equation providing an optimal fit to the data (adjusted R(2) = 0.934). The measurement could be assessed in 95.2% of cases. Of the 25 cases diagnosed with Fmic prenatally, on the basis of HC alone, 14 were micB and 11 were NHCB. We observed FCD below the mean - 2SD for gestational age in all 14 micB cases, but in only four of the 11 NHCB cases (P biometric assessment in the mid-sagittal plane is feasible and correlates well with gestational age. In our series, a vertical cranial deformation was a frequent cause of a false Fmic diagnosis made on the basis of HC alone. Combination of the new vertical cranial biometric measurement with HC measurement can exclude these cases and thus improve

  10. The Influence of Maternal Prenatal and Early Childhood Nutrition and Maternal Prenatal Stress on Offspring Immune System Development and Neurodevelopmental Disorders

    Directory of Open Access Journals (Sweden)

    Andrea Horvath Marques

    2013-07-01

    Full Text Available The developing immune system and central nervous system in the fetus and child are extremely sensitive to both exogenous and endogenous signals. Early immune system programming, leading to changes that can persist over the life course, has been suggested, and other evidence suggests that immune dysregulation in the early developing brain may play a role in neurodevelopmental disorders such as autism spectrum disorder and schizophrenia. The timing of immune dysregulation with respect to gestational age and neurologic development of the fetus may shape the elicited response. This creates a possible sensitive window of programming or vulnerability. This review will explore the effects of prenatal maternal and infant nutritional status (from conception until early childhood as well as prenatal maternal stress and anxiety on early programming of immune function, and how this might influence neurodevelopment. We will describe fetal immune system development and maternal-fetal immune interactions to provide a better context for understanding the influence of nutrition and stress on the immune system. Finally, we will discuss the implications for prevention of neurodevelopmental disorders, with a focus on nutrition. Although certain micronutrient supplements have shown to both reduce the risk of neurodevelopmental disorders and enhance fetal immune development, we do not know whether their impact on immune development contributes to the preventive effect on neurodevelopmental disorders. Future studies are needed to elucidate this relationship, which may contribute to a better understanding of preventative mechanisms. Integrating studies of neurodevelopmental disorders and prenatal exposures with the simultaneous evaluation of neural and immune systems will shed light on mechanisms that underlie individual vulnerability or resilience to neurodevelopmental disorders and ultimately contribute to the development of primary preventions and early

  11. Sex determination using free fetal DNA in early pregnancy: With the approach to sex linked recessive disorders

    Directory of Open Access Journals (Sweden)

    Amir Monfaredan

    2017-03-01

    Full Text Available Introduction: Prenatal diagnosis is testing for detection of diseases or conditions in a fetus or embryo before it is born. Most of prenatal diagnostic (PD techniques are invasive and done in late stages of pregnancy. Using fetal DNA in maternal blood for fetal sex determination in early pregnancy might help in management of X-linked genetic diseases. This study aimed to investigate the accuracy of sex determination using fetal DNA in maternal blood at 8-12 weeks of gestation. Methods: In this cross-sectional study, 30 pregnant women at 8-12 weeks of gestation were enrolled. The sex-determining region Y (SRY gene expression with the internal control (IC glyceraldehyde 3-phosphate dehydrogenase (GAPDH was investigated with quantitative real-time polymerase chain reaction (PCR using specific primers and probes. Results: Accuracy of sex determination with SRY gene expression in 8-12 weeks of pregnancy were 85%, 85%, 90% and 100% respectively. Conclusion: It seems that fetal sex determining using fetal DNA in maternal blood is a reliable method for early stage of pregnancy.

  12. Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure.

    Science.gov (United States)

    Suttie, Michael; Wetherill, Leah; Jacobson, Sandra W; Jacobson, Joseph L; Hoyme, H Eugene; Sowell, Elizabeth R; Coles, Claire; Wozniak, Jeffrey R; Riley, Edward P; Jones, Kenneth L; Foroud, Tatiana; Hammond, Peter

    2017-08-01

    Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure by developing computer-based tools for screening facial form. All 415 individuals considered were evaluated by expert dysmorphologists and categorized as (i) healthy control (HC), (ii) fetal alcohol syndrome (FAS), or (iii) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS; 3D facial photographs were used to build models of facial form to support discrimination studies. Surface curvature-based delineations of facial form were introduced. (i) Facial growth in FAS, HE, and control subgroups is similar in both cohorts. (ii) Cohort consistency of agreement between clinical diagnosis and HC-FAS facial form classification is lower for midline facial regions and higher for nonmidline regions. (iii) Specific HC-FAS differences within and between the cohorts include: for HC, a smoother philtrum in Cape Coloured individuals; for FAS, a smoother philtrum in Caucasians; for control-FAS philtrum difference, greater homogeneity in Caucasians; for control-FAS face difference, greater homogeneity in Cape Coloured individuals. (iv) Curvature changes in facial profile induced by prenatal alcohol exposure are more homogeneous and greater in Cape Coloureds than in Caucasians. (v) The Caucasian HE subset divides into clusters with control-like and FAS-like facial dysmorphism. The Cape Coloured HE subset is similarly divided for nonmidline facial regions but not clearly for midline structures. (vi) The Cape Coloured HE subset with control-like facial dysmorphism shows orbital hypertelorism. Facial curvature assists the recognition of the effects of prenatal alcohol exposure and helps explain why different facial regions result in inconsistent control-FAS discrimination rates in disparate ethnic groups. Heavy prenatal alcohol exposure can give rise to orbital hypertelorism, supporting a long-standing suggestion that prenatal alcohol exposure at a particular time causes

  13. Developmental Programming: Does Prenatal Steroid Excess Disrupt the Ovarian VEGF System in Sheep?1

    Science.gov (United States)

    Ortega, Hugo Héctor; Veiga-Lopez, Almudena; Sreedharan, Shilpa; del Luján Velázquez, Melisa María; Salvetti, Natalia Raquel; Padmanabhan, Vasantha

    2015-01-01

    Prenatal testosterone (T), but not dihydrotestosterone (DHT), excess disrupts ovarian cyclicity and increases follicular recruitment and persistence. We hypothesized that the disruption in the vascular endothelial growth factor (VEGF) system contributes to the enhancement of follicular recruitment and persistence in prenatal T-treated sheep. The impact of T/DHT treatments from Days 30 to 90 of gestation on VEGFA, VEGFB, and their receptor (VEGFR-1 [FLT1], VEGFR-2 [KDR], and VEGFR-3 [FLT4]) protein expression was examined by immunohistochemistry on Fetal Days 90 and 140, 22 wk, 10 mo (postpubertal), and 21 mo (adult) of age. Arterial morphometry was performed in Fetal Day 140 and postpubertal ovaries. VEGFA and VEGFB expression were found in granulosa cells at all stages of follicular development with increased expression in antral follicles. VEGFA was present in theca interna, while VEGFB was present in theca interna/externa and stromal cells. All three receptors were expressed in the granulosa, theca, and stromal cells during all stages of follicular development. VEGFR-3 increased with follicular differentiation with the highest level seen in the granulosa cells of antral follicles. None of the members of the VEGF family or their receptor expression were altered by age or prenatal T/DHT treatments. At Fetal Day 140, area, wall thickness, and wall area of arteries from the ovarian hilum were larger in prenatal T- and DHT-treated females, suggestive of early androgenic programming of arterial differentiation. This may facilitate increased delivery of endocrine factors and thus indirectly contribute to the development of the multifollicular phenotype. PMID:26178718

  14. Use of the medical information on the internet by pregnant patients with a prenatal diagnosis of neonatal disease requiring surgery.

    Science.gov (United States)

    Usui, Noriaki; Kamiyama, Masafumi; Tani, Gakuto; Kanagawa, Takeshi; Fukuzawa, Masahiro

    2011-12-01

    The purpose of this study was to clarify the current status and the problems associated with using medical information on the internet during pregnancy in patients prenatally diagnosed with fetal abnormalities at a single Japanese institution. A written, anonymous questionnaire survey was conducted in 155 pregnant patients who had been prenatally diagnosed as having neonatal surgical diseases between January 2000 and December 2009, and their families. Forty-three out of the 75 responding families (57.3%) had used medical information available on the internet during their pregnancy. The availability of information, assessed during 2 year-increments, has increased rapidly in the past 4 years. When the explanation of a physician was compared with the information provided by the internet, the knowledge or impression of the disease was different in 60% of cases and similar in 33% of cases. More importantly, 60% of the patients felt that the information obtained from the internet was more pessimistic than the physician's explanation. The number of pregnant patients who have used medical information on the internet has rapidly increased in the recent years. Subjects who used this information were more likely to experience a sense of anxiety and feelings regarding the seriousness of the disease.

  15. Ultrasonographic fetal growth charts: an informatic approach by quantitative analysis of the impact of ethnicity on diagnoses based on a preliminary report on Salentinian population.

    Science.gov (United States)

    Tinelli, Andrea; Bochicchio, Mario Alessandro; Vaira, Lucia; Malvasi, Antonio

    2014-01-01

    Clear guidance on fetal growth assessment is important because of the strong links between growth restriction or macrosomia and adverse perinatal outcome in order to reduce associated morbidity and mortality. Fetal growth curves are extensively adopted to track fetal sizes from the early phases of pregnancy up to delivery. In the literature, a large variety of reference charts are reported but they are mostly up to five decades old. Furthermore, they do not address several variables and factors (e.g., ethnicity, foods, lifestyle, smoke, and physiological and pathological variables), which are very important for a correct evaluation of the fetal well-being. Therefore, currently adopted fetal growth charts are inadequate to support the melting pot of ethnic groups and lifestyles of our society. Customized fetal growth charts are needed to provide an accurate fetal assessment and to avoid unnecessary obstetric interventions at the time of delivery. Starting from the development of a growth chart purposely built for a specific population, in the paper, authors quantify and analyse the impact of the adoption of wrong growth charts on fetal diagnoses. These results come from a preliminary evaluation of a new open service developed to produce personalized growth charts for specific ethnicity, lifestyle, and other parameters.

  16. Roles of Melatonin in Fetal Programming in Compromised Pregnancies

    Directory of Open Access Journals (Sweden)

    Yu-Chieh Chen

    2013-03-01

    Full Text Available Compromised pregnancies such as those associated with gestational diabetes mellitus, intrauterine growth retardation, preeclampsia, maternal undernutrition, and maternal stress may negatively affect fetal development. Such pregnancies may induce oxidative stress to the fetus and alter fetal development through the epigenetic process that may affect development at a later stage. Melatonin is an oxidant scavenger that reverses oxidative stress during the prenatal period. Moreover, the role of melatonin in epigenetic modifications in the field of developmental programming has been studied extensively. Here, we describe the physiological function of melatonin in pregnancy and discuss the roles of melatonin in fetal programming in compromised pregnancies, focusing on its involvement in redox and epigenetic mechanisms.

  17. Roles of Melatonin in Fetal Programming in Compromised Pregnancies

    Science.gov (United States)

    Chen, Yu-Chieh; Sheen, Jiunn-Ming; Tiao, Miao-Meng; Tain, You-Lin; Huang, Li-Tung

    2013-01-01

    Compromised pregnancies such as those associated with gestational diabetes mellitus, intrauterine growth retardation, preeclampsia, maternal undernutrition, and maternal stress may negatively affect fetal development. Such pregnancies may induce oxidative stress to the fetus and alter fetal development through the epigenetic process that may affect development at a later stage. Melatonin is an oxidant scavenger that reverses oxidative stress during the prenatal period. Moreover, the role of melatonin in epigenetic modifications in the field of developmental programming has been studied extensively. Here, we describe the physiological function of melatonin in pregnancy and discuss the roles of melatonin in fetal programming in compromised pregnancies, focusing on its involvement in redox and epigenetic mechanisms. PMID:23466884

  18. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

  19. Fetal MRI evaluation of an intracranial mass: in utero evolution of hemorrhage

    International Nuclear Information System (INIS)

    Emamian, Seyed A.; Bulas, Dorothy I.; Vezina, Gilbert L.; Dubovsky, Elizabeth C.; Cogan, Phillip

    2002-01-01

    The role of MRI in the evaluation of fetal abnormalities is still under evaluation. We describe a case of an intracranial mass that was initially identified by prenatal ultrasound and was further evaluated by MRI. Ultimately, the findings were most consistent with hematoma secondary to an underlying dural malformation with spontaneous involution. The advantages of fetal MRI in the assessment and management of this abnormality will be discussed. (orig.)

  20. Fetal MRI evaluation of an intracranial mass: in utero evolution of hemorrhage

    Energy Technology Data Exchange (ETDEWEB)

    Emamian, Seyed A.; Bulas, Dorothy I.; Vezina, Gilbert L.; Dubovsky, Elizabeth C. [Department of Diagnostic Imaging and Radiology, Children' s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 (United States); Cogan, Phillip [Department of Neurosurgery, Children' s National Medical Center, George Washington University,Washington, DC (United States)

    2002-08-01

    The role of MRI in the evaluation of fetal abnormalities is still under evaluation. We describe a case of an intracranial mass that was initially identified by prenatal ultrasound and was further evaluated by MRI. Ultimately, the findings were most consistent with hematoma secondary to an underlying dural malformation with spontaneous involution. The advantages of fetal MRI in the assessment and management of this abnormality will be discussed. (orig.)

  1. [Prenatal cerebrovascular accidents diagnosed in the early infant stage: a series of 10 patients].

    Science.gov (United States)

    Pina-Jover, María; Martinez-Del Villar, María; Lillo-Laguna, Lucía; Jadraque-Rodriguez, Rocío; Martinez-Pastor, Pedro; Jover-Cerda, Jenaro; Gomez-Gosalvez, Francisco

    2013-07-01

    INTRODUCTION. A foetal or prenatal cerebrovascular accident (CVA) is defined as an ischaemic, thrombotic or arterial or venous haemorrhagic event that occurs between the 14th week of gestation and the onset of labour. PATIENTS AND METHODS. We report a retrospective study of a series of 10 patients suffering from a, presumably foetal, stroke that went unnoticed during the pregnancy and was diagnosed in the early infant stage. The symptoms and the age at which they were identified are highlighted. RESULTS. None of the 10 patients studied presented any relevant events in the mothers' medical history, but there were four threats of a preterm birth that were solved using the usual means and without the occurrence of any alterations that later affected the foetus. The studies that led to the diagnosis were carried out between the sixth and ninth months of life, and the reason for visiting was reported by the family as being a lower degree of mobility on one side of the body with respect to the other. Two patients presented thrombophilia. With a mean follow-up time of six years, all the patients have an associated infantile cerebral palsy, a third of them have epilepsy and 75% have learning difficulties or intellectual disability. CONCLUSIONS. When CVA are not detected in the prenatal period, it is important in primary care to look for and detect the warning signs of the psychomotor development of the infant at an early stage in order to begin a study of the case and to undertake rehabilitation as early as possible.

  2. Prenatal Alcohol Exposure and Miscarriage, Stillbirth, Preterm Delivery, and Sudden Infant Death Syndrome

    OpenAIRE

    Bailey, Beth A.; Sokol, Robert J.

    2011-01-01

    In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposure...

  3. Developmental Programming: Does Prenatal Steroid Excess Disrupt the Ovarian VEGF System in Sheep?

    Science.gov (United States)

    Ortega, Hugo Héctor; Veiga-Lopez, Almudena; Sreedharan, Shilpa; del Luján Velázquez, Melisa María; Salvetti, Natalia Raquel; Padmanabhan, Vasantha

    2015-09-01

    Prenatal testosterone (T), but not dihydrotestosterone (DHT), excess disrupts ovarian cyclicity and increases follicular recruitment and persistence. We hypothesized that the disruption in the vascular endothelial growth factor (VEGF) system contributes to the enhancement of follicular recruitment and persistence in prenatal T-treated sheep. The impact of T/DHT treatments from Days 30 to 90 of gestation on VEGFA, VEGFB, and their receptor (VEGFR-1 [FLT1], VEGFR-2 [KDR], and VEGFR-3 [FLT4]) protein expression was examined by immunohistochemistry on Fetal Days 90 and 140, 22 wk, 10 mo (postpubertal), and 21 mo (adult) of age. Arterial morphometry was performed in Fetal Day 140 and postpubertal ovaries. VEGFA and VEGFB expression were found in granulosa cells at all stages of follicular development with increased expression in antral follicles. VEGFA was present in theca interna, while VEGFB was present in theca interna/externa and stromal cells. All three receptors were expressed in the granulosa, theca, and stromal cells during all stages of follicular development. VEGFR-3 increased with follicular differentiation with the highest level seen in the granulosa cells of antral follicles. None of the members of the VEGF family or their receptor expression were altered by age or prenatal T/DHT treatments. At Fetal Day 140, area, wall thickness, and wall area of arteries from the ovarian hilum were larger in prenatal T- and DHT-treated females, suggestive of early androgenic programming of arterial differentiation. This may facilitate increased delivery of endocrine factors and thus indirectly contribute to the development of the multifollicular phenotype. © 2015 by the Society for the Study of Reproduction, Inc.

  4. Fetal alcohol spectrum disorders har fået danske kriterier

    DEFF Research Database (Denmark)

    Broccia, Marcella; Vikre-Jørgensen, Jennifer; Rausgaard, Nete Lundager Klokker

    2017-01-01

    The Danish Paediatric Society presents the first Danish definition of fetal alcohol spectrum disorders (FASD) in a new guideline. FASD is an umbrella term for conditions caused by prenatal alcohol exposure. To varying degrees, fetal alcohol damages manifest as physical defects, characteristic...... facial features and poor growth, as well as behavioural and cognitive disorders. It requires both somatic and psychological evaluation to identify these damages. Early diagnosis and identification of problems are important for prognosis as professional care has a positive preventive effect...

  5. Linkage between the Danish National Health Service Prescription Database, the Danish Fetal Medicine Database, and other Danish registries as a tool for the study of drug safety in pregnancy

    Directory of Open Access Journals (Sweden)

    Pedersen LH

    2016-05-01

    Full Text Available Lars H Pedersen,1,2 Olav B Petersen,1,2 Mette Nørgaard,3 Charlotte Ekelund,4 Lars Pedersen,3 Ann Tabor,4 Henrik T Sørensen3 1Department of Clinical Medicine, Aarhus University, 2Department of Obstetrics and Gynecology, 3Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 4Department of Fetal Medicine, Rigshospitalet, Copenhagen, Denmark Abstract: A linked population-based database is being created in Denmark for research on drug safety during pregnancy. It combines information from the Danish National Health Service Prescription Database (with information on all prescriptions reimbursed in Denmark since 2004, the Danish Fetal Medicine Database, the Danish National Registry of Patients, and the Medical Birth Registry. The new linked database will provide validated information on malformations diagnosed both prenatally and postnatally. The cohort from 2008 to 2014 will comprise 589,000 pregnancies with information on 424,000 pregnancies resulting in live-born children, ~420,000 pregnancies undergoing prenatal ultrasound scans, 65,000 miscarriages, and 92,000 terminations. It will be updated yearly with information on ~80,000 pregnancies. The cohort will enable identification of drug exposures associated with severe malformations, not only based on malformations diagnosed after birth but also including those having led to termination of pregnancy or miscarriage. Such combined data will provide a unique source of information for research on the safety of medications used during pregnancy. Keywords: malformations, teratology, therapeutic drug monitoring, epidemiological methods, registries

  6. Fast MR imaging and ultrafast MR imaging of fetal central nervous system abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Shakudo, Miyuki; Manabe, Takao; Murata, Katsuko; Matsuo, Ryoichi; Oda, Junro [Osaka City General Hospital (Japan); Inoue, Yuichi; Mochizuki, Kunizo; Yamada, Ryusaku

    2001-12-01

    The aims of this study were two: to compare the efficacy of fast MRI (breath-hold fast spin-echo T2-weighted and fast gradient-echo T1-weighted sequence) and ultrafast MRI (half-Fourier acquisition single-shot turbo spin-echo sequence) in evaluation of fetal central nervous system (CNS) abnormalities at late gestational age, and to compare the capability of fast MRI and ultrafast MRI to assess fetal CNS abnormalities with that of prenatal ultrasonography (US). Forty-nine women with fetuses at gestational ages of 26-39 weeks underwent fast MRI (29 patients) or ultrafast MRI (20 patients). In detection of motion artifact, visualization of the lateral and 4th ventricles, and differentiation between gray and white matter in cerebral hemispheres, ultrafast MRI was significantly superior to fast MRI (p<0.0001, Mann-Whitney U test). In 25 of 43 cases, US and MR diagnoses were the same and consistent with postnatal diagnosis. In 10 of 43 cases, MRI demonstrated findings additional to or different from those of US, and MR findings were confirmed postnatally. MRI, particularly ultrafast MRI, is useful for demonstrating CNS abnormalities in situations in which US is suggestive but not definitive. (author)

  7. A prenatally detected adrenal cyst treated by adrenal-sparing surgery

    African Journals Online (AJOL)

    A neonatal case of left adrenal cyst detected in utero and successfully treated by adrenal-sparing surgery is presented and discussed with review of the literature. Incidentally discovered prenatal adrenal masses present a diagnostic dilemma. Benign and malignant conditions can present as a fetal suprarenal mass. There is ...

  8. Early and late effects of prenatal corticosteroid treatment on the microRNA profiles of lung tissue in rats

    Science.gov (United States)

    YU, HONG-REN; LI, SUNG-CHOU; TSENG, WAN-NING; TAIN, YOU-LIN; CHEN, CHIH-CHENG; SHEEN, JIUNN-MING; TIAO, MAO-MENG; KUO, HO-CHANG; HUANG, CHAO-CHENG; HSIEH, KAI-SHENG; HUANG, LI-TUNG

    2016-01-01

    Glucocorticoids have been administered to mothers at risk of premature delivery to induce maturation of preterm fetal lungs and prevent the development of respiratory distress syndrome. Micro (mi)RNAs serve various crucial functions in cell proliferation, differentiation and organ development; however, few studies have demonstrated an association between miRNAs and lung development. The aim of the present study was to investigate alterations in the miRNA profiles of rat lung tissue following prenatal glucocorticoid therapy for fetal lung development. The differences in miRNA expression profiles were compared between postnatal days 7 (D7) and 120 (D120) rat lung tissues, followed by validation using reverse transcription-quantitative polymerase chain reaction. The miRNA profiles of rat lung tissues following prenatal dexamethasone (DEX) therapy were also investigated. miRNAs with 2-fold changes were selected for further analysis. At D120, 6 upregulated and 6 downregulated miRNAs were detected, compared with D7. Among these differentially expressed miRNAs, miR-101-3p and miR-99b-5p were associated with the lowest and highest expressions of miRNA at D7, respectively. A limited impact on the miRNA profiles of rat lung tissues was observed following prenatal DEX treatment, which may help to further clarify the mechanisms underlying normal lung development. However, the results of the present study cannot entirely elucidate the effects of prenatal DEX treatment on the lung development of premature infants, and further studies investigating the impact of prenatal corticosteroids on fetal lung miRNA profiles are required. PMID:26997989

  9. Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS)

    NARCIS (Netherlands)

    Donker, M.E.; Eijckelhof, B.H.; Tan, G.M.; de Vries, J.I.

    2009-01-01

    Background: Fetal Akinesia Deformation Sequence (FADS) is a rare, in most cases autosomal recessive, disorder. Its heterogeneous origin results in variable onset and expression of motor and postural anomalies. DNA-diagnostic possibilities are limited, thus prenatal diagnosis is chiefly dependent on

  10. Biopsychosocial determinants of pregnancy length and fetal growth.

    Science.gov (United States)

    St-Laurent, Jennifer; De Wals, Philippe; Moutquin, Jean-Marie; Niyonsenga, Theophile; Noiseux, Manon; Czernis, Loretta

    2008-05-01

    The causes and mechanisms related to preterm delivery and intrauterine growth restriction are poorly understood. Our objective was to assess the direct and indirect effects of psychosocial and biomedical factors on the duration of pregnancy and fetal growth. A self-administered questionnaire was distributed to pregnant women attending prenatal ultrasound clinics in nine hospitals in the Montérégie region in the province of Quebec, Canada, from November 1997 to May 1998. Prenatal questionnaires were linked with birth certificates. Theoretical models explaining pregnancy length and fetal growth were developed and tested, using path analysis. In order to reduce the number of variables from the questionnaire, a principal component analysis was performed, and the three most important new dimensions were retained as explanatory variables in the final models. Data were available for 1602 singleton pregnancies. The biophysical score, covering both maternal age and the pre-pregnancy body mass index, was the only variable statistically associated with pregnancy length. Smoking, obstetric history, maternal health and biophysical indices were direct predictors of fetal growth. Perceived stress, social support and self-esteem were not directly related to pregnancy outcomes, but were determinants of smoking and the above-mentioned biomedical variables. More studies are needed to identify the mechanisms by which adverse psychosocial factors are translated into adverse biological effects.

  11. Distinguishing between attention-deficit hyperactivity and fetal alcohol spectrum disorders in children: clinical guidelines

    Directory of Open Access Journals (Sweden)

    Elizabeth Peadon

    2010-08-01

    Full Text Available Elizabeth Peadon, Elizabeth J ElliottDiscipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, AustraliaAbstract: Fetal alcohol spectrum disorders (FASD are the physical and neurodevelopmental outcomes of fetal alcohol exposure. The behavioral phenotype of children with FASD includes difficulties with executive function, memory, planning, processing speed, and attention. Although attention deficit hyperactivity disorder (ADHD is diagnosed in up to 94% of individuals with heavy prenatal alcohol exposure, the exact relationship between FASD and ADHD is unclear. There is some evidence that ADHD in FASD may be a specific clinical subtype and thus may require a different treatment approach. Although traditional behavioral observation scales may not distinguish between the two groups, there is evidence that children with FASD have a different profile on the four-factor model of attention than children with ADHD who do not have FASD. There is a paucity of good scientific evidence on effective interventions for individuals with ADHD and FASD. There is weak evidence that children with FASD and ADHD may have a better response to dexamphetamine than methylphenidate. There is a strong need for larger, high quality studies to examine the relationship between ADHD and FASD and identify effective treatments because management of inattention and hyperactivity may improve learning and ameliorate the common secondary disabilities associated with FASD.Keywords: fetal alcohol spectrum disorders, attention deficit hyperactivity disorder

  12. What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

    Science.gov (United States)

    Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

    2010-10-01

    Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  13. Fetal programming of the metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Aleksandra Marciniak

    2017-04-01

    Full Text Available Prenatal development is currently recognized as a critical period in the etiology of human diseases. This is particularly so when an unfavorable environment interacts with a genetic predisposition. The fetal programming concept suggests that maternal nutritional imbalance and metabolic disturbances may have a persistent and intergenerational effect on the health of offspring and on the risk of diseases such as obesity, diabetes, and cardiovascular diseases.

  14. Prevention of fetal demise and growth restriction in a mouse model of fetal alcohol syndrome.

    Science.gov (United States)

    Spong, C Y; Abebe, D T; Gozes, I; Brenneman, D E; Hill, J M

    2001-05-01

    Two peptides [NAPVSIPQ (NAP) and SALLRSIPA (ADNF-9)], that are associated with novel glial proteins regulated by vasoactive intestinal peptide, are shown now to provide protective intervention in a model of fetal alcohol syndrome. Fetal demise and growth restrictions were produced after intraperitoneal injection of ethanol to pregnant mice during midgestation (E8). Death and growth abnormalities elicited by alcohol treatment during development are believed to be associated, in part, with severe oxidative damage. NAP and ADNF-9 have been shown to exhibit antioxidative and antiapoptotic actions in vitro. Pretreatment with an equimolar combination of the peptides prevented the alcohol-induced fetal death and growth abnormalities. Pretreatment with NAP alone resulted in a significant decrease in alcohol-associated fetal death; whereas ADNF-9 alone had no detectable effect on fetal survival after alcohol exposure, indicating a pharmacological distinction between the peptides. Biochemical assessment of the fetuses indicated that the combination peptide treatment prevented the alcohol-induced decreases in reduced glutathione. Peptide efficacy was evident with either 30-min pretreatment or with 1-h post-alcohol administration. Bioavailability studies with [(3)H]NAPVSIPQ indicated that 39% of the total radioactivity comigrated with intact peptide in the fetus 60 min after administration. These studies demonstrate that fetal death and growth restriction associated with prenatal alcohol exposure were prevented by combinatorial peptide treatment and suggest that this therapeutic strategy be explored in other models/diseases associated with oxidative stress.

  15. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma.

    Science.gov (United States)

    Lim, Ji Hyae; Kim, Mee Jin; Kim, Shin Young; Kim, Hye Ok; Song, Mee Jin; Kim, Min Hyoung; Park, So Yeon; Yang, Jae Hyug; Ryu, Hyun Mee

    2011-02-01

    To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma. We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma. Maternal plasmas were obtained at 27 weeks of gestational age from women carrying an achondroplasia fetus or a normal fetus. Two percent or less achondroplasia DNA was reliably detected by QF-PCR. In a woman carrying a normal fetus, analysis of cf-DNA showed only one peak of the wild-type G allele. In a woman expected an achondroplasia fetus, analysis of cf-DNA showed the two peaks of wild-type G allele and mutant-type A allele and accurately detected the fetal achondroplasia. The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia.

  16. Prenatal ultrasound diagnosis of omphalocele

    International Nuclear Information System (INIS)

    Rio Romero, Luskenia del; Blanco Figueredo, Nadia; Rodriguez Dominguez, Zulay

    2014-01-01

    Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient inquest made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Pathologically the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele

  17. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee [Dankook University Hospital, Chonan (Korea, Republic of)

    2000-03-15

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  18. Prenatal sonographic findings of Beckwith-Wiedemann syndrome: A case report

    International Nuclear Information System (INIS)

    Yoon, Won Sang; Lee, Jee Young; Lee, Yeon Hee

    2000-01-01

    The Backwith-Wiedemann syndrome (BWS) is and unusual complex with variable clinical features. Major findings included defects in the abdominal wall, macroglossia and macrosomia. These features should be amenable to prenatal ultrasound detection. Serious complications are possible in the neonatal period, which may result from the hypoglycemia or the airway obstruction due to macroglossia. Accurate prenatal diagnosis allows optimum prenatal care and prevention of serious complications. We report a case of prenatally diagnosed BWS with omphalocele, macroglossia, nephromegaly and hepatic cyst.

  19. Clinical outcome and follow-up of prenatal hydronephrosis

    Directory of Open Access Journals (Sweden)

    Afshin Safaei Asl

    2012-01-01

    Full Text Available Hydronephrosis is probably the most common congenital abnormality detected prenatally by ultrasonography This study was performed to determine the cause and outcome of prenatal hydronephrosis in our hospital. A total of 45 infants, with 57 prenatally hydronephrotic renal units, were enrolled into this study. For the purpose of this study, the degree of hydronephrosis was defined as mild, moderate or severe. Postnatal ultrasonography was performed as soon as possible in those with bilateral hyronephrosis and 3-7 days after birth in those with unilateral hydronephrosis. Voiding cystourethrogram was performed in 6-8 weeks time. In the absence of vesicoureteral reflux (VUR, Diethylenetriamene penta acetate scan was performed to exclude obstructive uropathy. There were 29 males and 16 females (male:female ratio 1.8:1, and unilateral and bilateral hydronephrosis were seen in 33 (73% and 12 (27% of the cases, res-pectively. Hydronephrosis was caused by ureteropelvic junction obstruction (UPJO in 20 (44.5%, VUR in 10 (22.2%, ureterovesical junction obstruction in four (8.9 %, posteriorurethral valves in four (8.9 %, UPJO with VUR in two (4.4% and non-VUR non-obstructive in one (2.2%. During follow-up, 16 patients (35.5% required operative intervention while seven (15.5% improved spontaneously. Fetal hydronephrosis needs close follow-up during both ante-natal and postnatal periods. In this study, the most common cause for hydronephrosis were UPJO and VUR. Also seen in this study is the noteworthy point that mild fetal hydronephrosis is relatively benign and does not require surgical intervention in most cases and surgery should be performed only if there is renal function compromise. Prenatal consultation with a pediatric nephrologist and urologist is useful in decreasing parental anxiety and facilitating postnatal management.

  20. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities.

    NARCIS (Netherlands)

    Go, A.T.; Vugt, J.M.G. van; Oudejans, C.B.

    2011-01-01

    BACKGROUND: Cell-free fetal DNA (cff DNA) and RNA can be detected in maternal plasma and used for non-invasive prenatal diagnostics. Recent technical advances have led to a drastic change in the clinical applicability and potential uses of free fetal DNA and RNA. This review summarizes the latest

  1. Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

    Science.gov (United States)

    Filges, Isabel; Friedman, Jan M

    2015-10-01

    Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis. © 2014 John Wiley & Sons, Ltd.

  2. Fetal exposure to environmental neurotoxins in Taiwan.

    Science.gov (United States)

    Jiang, Chuen-Bin; Hsi, Hsing-Cheng; Fan, Chun-Hua; Chien, Ling-Chu

    2014-01-01

    Mercury (Hg), lead (Pb), cadmium (Cd), and arsenic (As) are recognized neurotoxins in children that particularly affect neurodevelopment and intellectual performance. Based on the hypothesis that the fetal basis of adult disease is fetal toxic exposure that results in adverse outcomes in adulthood, we explored the concentrations of key neurotoxins (i.e., Hg, Pb, Cd, and As) in meconium to identify the risk factors associated with these concentrations. From January 2007 to December 2009, 545 mother-infant pairs were recruited. The geometric mean concentrations of Pb and As in the meconium of babies of foreign-born mothers (22.9 and 38.1 µg/kg dry weight, respectively) were significantly greater than those of babies of Taiwan-born mothers (17.5 and 33.0 µg/kg dry weight, respectively). Maternal age (≥30 y), maternal education, use of traditional Chinese herbs during pregnancy, and fish cutlet consumption (≥3 meals/wk) were risk factors associated with concentrations of key prenatal neurotoxins. The Taiwan government should focus more attention on providing intervention programs for immigrant mothers to help protect the health of unborn babies. Further investigation on how multiple neurotoxins influence prenatal neurodevelopment is warranted.

  3. Fetal exposure to environmental neurotoxins in Taiwan.

    Directory of Open Access Journals (Sweden)

    Chuen-Bin Jiang

    Full Text Available Mercury (Hg, lead (Pb, cadmium (Cd, and arsenic (As are recognized neurotoxins in children that particularly affect neurodevelopment and intellectual performance. Based on the hypothesis that the fetal basis of adult disease is fetal toxic exposure that results in adverse outcomes in adulthood, we explored the concentrations of key neurotoxins (i.e., Hg, Pb, Cd, and As in meconium to identify the risk factors associated with these concentrations. From January 2007 to December 2009, 545 mother-infant pairs were recruited. The geometric mean concentrations of Pb and As in the meconium of babies of foreign-born mothers (22.9 and 38.1 µg/kg dry weight, respectively were significantly greater than those of babies of Taiwan-born mothers (17.5 and 33.0 µg/kg dry weight, respectively. Maternal age (≥30 y, maternal education, use of traditional Chinese herbs during pregnancy, and fish cutlet consumption (≥3 meals/wk were risk factors associated with concentrations of key prenatal neurotoxins. The Taiwan government should focus more attention on providing intervention programs for immigrant mothers to help protect the health of unborn babies. Further investigation on how multiple neurotoxins influence prenatal neurodevelopment is warranted.

  4. Prenatal Exposure to Maternal Obesity Alters Anxiety and Stress Coping Behaviors in Aged Mice

    OpenAIRE

    Balsevich, G.; Baumann, V.; Uribe, A.; Chen, A.; Schmidt, M.

    2016-01-01

    Background: There is growing evidence that maternal obesity and prenatal exposure to a high-fat diet program fetal development to regulate the physiology and behavior of the offspring in adulthood. Yet the extent to which the maternal dietary environment contributes to adult disease vulnerability remains unclear. In the current study we tested whether prenatal exposure to maternal obesity increases the offspring's vulnerability to stress-related psychiatric disorders. Methods: We used a mouse...

  5. Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

    Science.gov (United States)

    Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

    2013-09-01

    To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

  6. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana

    2014-01-01

    ). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn...... MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd....

  7. Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis

    Science.gov (United States)

    Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

    2017-01-01

    Abstract Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. PMID:29390297

  8. Teaching Students with Fetal Alcohol Spectrum Disorder: Building Strengths, Creating Hope. Programming for Students with Special Needs. Book 10

    Science.gov (United States)

    Clarren, Sandra G. Bernstein

    2004-01-01

    "Teaching Students with Fetal Alcohol Spectrum Disorder: Building Strengths, Creating Hope" is Book 10 in the Programming for Students with Special Needs series; a revision and expansion of the 1997 Alberta Learning teacher resource, "Teaching Students with Fetal Alcohol Syndrome and Possible Prenatal Alcohol-Related Effects."…

  9. Fetal cardiology

    International Nuclear Information System (INIS)

    Meijboom, E.J.; Rijsterborgh, N.; Bom, N.

    1986-01-01

    Doppler echocardiography makes it possible to diagnose congenital heart disease in early pregnancy. It allows us to study the anatomical configuration of the fetal heart, and additionally, to evaluate the physiological conditions of the fetus. Evaluation of the direction, velocity, wave form pattern, and quantification of blood flow at the various sites in the fetal heart helps us to assess the characteristics of the fetal circulation and condition of the fetal heart. In order to use this technique in pathological situations, an initial study of the developing normal human fetal circulation was necessary. The authors studied 34 uncomplicated pregnancies by serial Doppler echocardiography. The studies were performed every 4 weeks from 16-weeks gestation to term. The pulsed Doppler sector scanner provided cardiac cross-sectional images, mitral and tricuspid blood velocities were obtained from apical four-chamber views. Angle corrected maximal and mean temporal velocities were calculated by digitizing the Doppler frequency shift recording on a graphic tablet computed with a minicomputer. The angle between the Doppler interrogation beam and the direction of blood flow was kept as small as possible in order to minimize the error

  10. Moral maturity and delinquency after prenatal alcohol exposure.

    Science.gov (United States)

    Schonfeld, Amy M; Mattson, Sarah N; Riley, Edward P

    2005-07-01

    Prenatal exposure to alcohol is associated with cognitive, behavioral and social deficits, including delinquency. Although delinquent populations and those with intellectual and behavioral deficits exhibit impaired moral judgment and reasoning, this area remains unexplored in alcohol-exposed individuals. Moral maturity and delinquency were evaluated in 27 participants with prenatal alcohol exposure (ALC group) and 29 nonexposed controls (CON group) matched on age (range: 10-18), gender, handedness, socioeconomic status and ethnicity. Moral maturity was evaluated using the Sociomoral Reflection Measure-Short Form, and delinquency was evaluated with the Conduct Disorder (CD) Questionnaire. Additional measures included social desirability and inhibition. The ALC group performed at a lower level of moral maturity than the CON group. Whereas Verbal IQ primarily predicted this difference, a deficit on the moral value judgment having to do with relationships with others was specific to prenatal alcohol exposure. Furthermore, delinquency was higher in the ALC group, and specific sociomoral values were predictive of delinquent behavior. Finally, half of the children and adolescents with a history of prenatal alcohol exposure but without fetal alcohol syndrome had probable CD. The results of this study indicate that interventions aimed at reducing delinquency in those with prenatal alcohol exposure are necessary, and targeting moral judgment for this purpose may be beneficial.

  11. Prenatal Screening Using Maternal Markers

    Directory of Open Access Journals (Sweden)

    Howard Cuckle

    2014-05-01

    Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  12. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    Science.gov (United States)

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  13. The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing : A randomised controlled trial

    NARCIS (Netherlands)

    Beulen, Lean; Van Den Berg, Michelle; Faas, Brigitte Hw; Feenstra, Ilse; Hageman, Michiel; Van Vugt, John Mg; Bekker, Mireille N.

    2016-01-01

    Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range

  14. Fetal lung volume measurement by MRI with high-speed imaging systems

    Energy Technology Data Exchange (ETDEWEB)

    Osada, Hisao; Kaku, Kenshi [Chiba Univ. (Japan). Hospital

    2002-08-01

    Although ultrasonography is widely used for fetal morphologic observation, magnetic resonance imaging (MRI) has gained popularity as a new prenatal diagnostic method with recent introduction of high-speed imaging systems. Infants with lung hypoplasia affecting respiratory function require intensive management starting immediately after birth. Therefore, accurate prenatal differential diagnosis and severity evaluation are extremely important for these fetuses. The aim of this study is to measure fetal lung volume using a computer-based, three-dimensional MRI imaging system and to evaluate the possibility of clinical applications of this procedure. A total of 96 fetuses were evaluated, all were morphologically abnormal, and MRI was done for advanced assessment from 24 to 39 weeks gestation. Three-directional views of fetal chest were imaged by Signa Horizon, 1.5 Tesla, version 5.6 (General Electronics) with the following conditions; coil: TORSO coil, sequence: SSFSE (single shot fast spin echo), slice thickness: 5 mm, and imaging speed: 2 seconds/slice. To calculate the lung volume and create three-dimensional image, the lung area in each slice was traced out, then multiplied using computer image processing. Simultaneously, the volumes of all slices were summed to give the volume of each lung. Linear regression analysis and analysis of covariance (ANCOVA) were used for statistical analyses. In all cases, clear images were obtained, and were adequate for three-dimensional evaluation of the fetal lung. Thirty-five fetuses had poor outcomes, such as intrauterine fetal death, neonatal death, and intensive respiratory care. Regression lines of lung volume versus gestational week were calculated for these fetuses with poor outcome and 61 other fetuses with good outcome. ANCOVA, with gestational week as a covariant, revealed a significant intergroup difference in the lung volume (p<0.001). Similarly, regression lines of lung volume versus fetal body weight estimated by

  15. El diagnóstico prenatal de defectos cromosómicos en Costa Rica

    Directory of Open Access Journals (Sweden)

    Isabel Castro Volio

    2004-09-01

    Full Text Available Esta es una breve reseña histórica del diagnóstico prenatal citogenético en Costa Rica. Se realiza únicamente en el Instituto de Investigaciones en Salud de la Universidad de Costa Rica desde el año 1984. Sirve a los hospitales de la seguridad social y a la medicina privada. Trabajamos con muestras de líquido amniótico y de sangre fetal enviadas por los perinatólogos, provenientes de embarazos de alto riesgo, ya sea por presentar alteraciones en el ultrasonograma, marcadores sonográficos de aneuploidía o edad materna avanzada, entre otras indicaciones menos frecuentes. El diagnóstico se realiza en el segundo y en el tercer trimestre de gestación. Como la interrupción del embarazo no es permitida, el personal médico y la familia se prepara con tiempo para recibir de la mejor manera al neonato afectado. En los casos de cariotipo normal, esta información alivia la preocupación de los padres.Prenatal diagnosis of chromosomic defects in Costa Rica. This is an historical overview of prenatal cytogenetic diagnosis in Costa Rica. It started in 1984 at the Institute for Health Research of the University of Costa Rica. This is the only fetal cytogenetic diagnosis facility in the country and serves social security as well as private patients. Perinatologists send amniotic fluid and fetal blood samples from high risk pregnancies, mainly due to abnormal ultrasound assessment, sonographic markers of aneuploidy and advanced maternal age. Second and third trimester diagnosis allows the development of coping strategies for the families of affected fetuses, since pregnancy interruption is not permitted. Normal fetal cytogenetic results provide reassurance to the parents. Rev. Biol. Trop. 52(3: 545-549. Epub 2004 Dic 15.

  16. Evaluation of single-nucleotide polymorphisms as internal controls in prenatal diagnosis of fetal blood groups.

    Science.gov (United States)

    Doescher, Andrea; Petershofen, Eduard K; Wagner, Franz F; Schunter, Markus; Müller, Thomas H

    2013-02-01

    Determination of fetal blood groups in maternal plasma samples critically depends on adequate amplification of fetal DNA. We evaluated the routine inclusion of 52 single-nucleotide polymorphisms (SNPs) as internal reference in our polymerase chain reaction (PCR) settings to obtain a positive internal control for fetal DNA. DNA from 223 plasma samples of pregnant women was screened for RHD Exons 3, 4, 5, and 7 in a multiplex PCR including 52 SNPs divided into four primer pools. Amplicons were analyzed by single-base extension and the GeneScan method in a genetic analyzer. Results of D screening were compared to standard RHD genotyping of amniotic fluid or real-time PCR of fetal DNA from maternal plasma. The vast majority of all samples (97.8%) demonstrated differences in maternal and fetal SNP patterns when tested with four primer pools. These differences were not observed in less than 2.2% of the samples most probably due to an extraction failure for adequate amounts of fetal DNA. Comparison of the fetal genotypes with independent results did not reveal a single false-negative case among samples (n = 42) with positive internal control and negative fetal RHD typing. Coamplification of 52 SNPs with RHD-specific sequences for fetal blood group determination introduces a valid positive control for the amplification of fetal DNA to avoid false-negative results. This new approach does not require a paternal blood sample. It may also be applicable to other assays for fetal genotyping in maternal blood samples. © 2012 American Association of Blood Banks.

  17. Fetal Alcohol Syndrome Disorder: diminished responsibility and mitigation of sentence.

    Science.gov (United States)

    Scott, Russ

    2018-02-01

    The objective of this study was to consider the implications of a recent Western Australia Court of Appeal decision in which an indigenous youth who had been sentenced for the manslaughter of his neonate child was later diagnosed with Fetal Alcohol Syndrome Disorder. The increased use of the 2016 Australian guide to the diagnosis of fetal alcohol spectrum disorder should be encouraged to enable clinicians to not only diagnose and manage Fetal Alcohol Syndrome Disorder, but also counsel families to prevent it.

  18. Fetal MRI: An approach to practice: A review

    Directory of Open Access Journals (Sweden)

    Sahar N. Saleem

    2014-09-01

    Full Text Available MRI has been increasingly used for detailed visualization of the fetus in utero as well as pregnancy structures. Yet, the familiarity of radiologists and clinicians with fetal MRI is still limited. This article provides a practical approach to fetal MR imaging. Fetal MRI is an interactive scanning of the moving fetus owed to the use of fast sequences. Single-shot fast spin-echo (SSFSE T2-weighted imaging is a standard sequence. T1-weighted sequences are primarily used to demonstrate fat, calcification and hemorrhage. Balanced steady-state free-precession (SSFP, are beneficial in demonstrating fetal structures as the heart and vessels. Diffusion weighted imaging (DWI, MR spectroscopy (MRS, and diffusion tensor imaging (DTI have potential applications in fetal imaging. Knowing the developing fetal MR anatomy is essential to detect abnormalities. MR evaluation of the developing fetal brain should include recognition of the multilayered-appearance of the cerebral parenchyma, knowledge of the timing of sulci appearance, myelination and changes in ventricular size. With advanced gestation, fetal organs as lungs and kidneys show significant changes in volume and T2-signal. Through a systematic approach, the normal anatomy of the developing fetus is shown to contrast with a wide spectrum of fetal disorders. The abnormalities displayed are graded in severity from simple common lesions to more complex rare cases. Complete fetal MRI is fulfilled by careful evaluation of the placenta, umbilical cord and amniotic cavity. Accurate interpretation of fetal MRI can provide valuable information that helps prenatal counseling, facilitate management decisions, guide therapy, and support research studies.

  19. Developmental programming: impact of prenatal testosterone excess on ovarian cell proliferation and apoptotic factors in sheep.

    Science.gov (United States)

    Salvetti, Natalia R; Ortega, Hugo H; Veiga-Lopez, Almudena; Padmanabhan, Vasantha

    2012-07-01

    Prenatal testosterone (T) excess leads to reproductive dysfunctions in sheep, which include increased ovarian follicular recruitment and persistence. To test the hypothesis that follicular disruptions in T sheep stem from changes in the developmental ontogeny of ovarian proliferation and apoptotic factors, pregnant Suffolk sheep were injected twice weekly with T propionate or dihydrotestosterone propionate (DHT; a nonaromatizable androgen) from Days 30 to 90 of gestation. Changes in developmental expression of proliferating cell nuclear antigen (PCNA), BCL2, BAX, activated CASP3, and FAS/FASLG were determined at Fetal Days 90 and 140, 22 wk, 10 mo, and 21 mo of age by immunocytochemisty. Prenatal T treatment induced changes in expression of proliferative and apoptotic markers in a follicle-, age-, and steroid-specific manner. Changes in BAX were evident only during fetal life and PCNA, BCL2, and CASP3 only postnatally. Prenatal T and not DHT increased PCNA and decreased BCL2 in granulosa/theca cells of antral follicles at 10 and 21 mo but decreased CASP3 in granulosa/theca cells of antral follicles at 22 wk (prepubertal) and 10 and 21 mo. Both treatments decreased BAX immunostaining in granulosa cells of Fetal Day 90 primordial/primary follicles. Neither treatment affected FAS expression at any developmental time point in any follicular compartment. Effects on BAX appear to be programmed by androgenic actions and PCNA, BCL2, and CASP3 by estrogenic actions of T. Overall, the findings demonstrate that fetal exposure to excess T disrupts the ovarian proliferation/apoptosis balance, thus providing a basis for the follicular disruptions evidenced in these females.

  20. Prenatal diagnostic decision-making in adolescents.

    Science.gov (United States)

    Plaga, Stacey L; Demarco, Kristin; Shulman, Lee P

    2005-04-01

    We sought to evaluate the prenatal decision-making of pregnant adolescents identified at increased risk for identifiable fetal genetic abnormalities. A retrospective review of records of gravid women 19 years old or younger undergoing genetic counseling from 2001-2003 (inclusive) was undertaken. Hospital-based academic center. Thirty-seven women were identified; four cases did not meet inclusion criteria. None. Decision to undergo or forgo invasive prenatal testing. Of the 33 women included in this study, the average age was 17.6 years (range: 15-19). Eighteen were Latinas, eight were African-Americans, and seven were Caucasians. Sixteen women had positive maternal serum screening outcomes; nine women sought counseling because of personal/family histories of genetic abnormalities, seven sought counseling after fetal structural anomalies were detected by ultrasound, and one woman sought counseling because she and her partner were positive for Mendelian disorder screening (sickle cell disease). Sixteen of the women (48.5%) chose to undergo invasive testing (15 amniocenteses, one chorionic villus sampling) whereas 17 (51.5%) chose to forgo invasive testing. Adolescents offered invasive prenatal diagnosis will chose to undergo or forgo such testing based on diagnostic and personal criteria as do adult women. Nonetheless, unique adolescent issues may make the process by which information is obtained and communicated during counseling to be different from counseling provided to adults. The development of new genetic screening and diagnostic protocols has and will increase the number of pregnant adolescent women who will be offered genetic counseling during their pregnancies. Such an increase in numbers will place considerably more pressure on an already taxed genetic counseling system; accordingly, new counseling paradigms will need to be developed to provide service to an expanded patient population seeking information for an increasing number of genetic issues.

  1. Fine motor skills in children with prenatal alcohol exposure or fetal alcohol spectrum disorder.

    Science.gov (United States)

    Doney, Robyn; Lucas, Barbara R; Jones, Taryn; Howat, Peter; Sauer, Kay; Elliott, Elizabeth J

    2014-01-01

    Prenatal alcohol exposure (PAE) can cause fetal alcohol spectrum disorders (FASD) and associated neurodevelopmental impairments. It is uncertain which types of fine motor skills are most likely to be affected after PAE or which assessment tools are most appropriate to use in FASD diagnostic assessments. This systematic review examined which types of fine motor skills are impaired in children with PAE or FASD; which fine motor assessments are appropriate for FASD diagnosis; and whether fine motor impairments are evident at both "low" and "high" PAE levels. A systematic review of relevant databases was undertaken using key terms. Relevant studies were extracted using a standardized form, and methodological quality was rated using a critical appraisal tool. Twenty-four studies met inclusion criteria. Complex fine motor skills, such as visual-motor integration, were more frequently impaired than basic fine motor skills, such as grip strength. Assessment tools that specifically assessed fine motor skills more consistently identified impairments than those which assessed fine motor skills as part of a generalized neurodevelopmental assessment. Fine motor impairments were associated with "moderate" to "high" PAE levels. Few studies reported fine motor skills of children with "low" PAE levels, so the effect of lower PAE levels on fine motor skills remains uncertain. Comprehensive assessment of a range of fine motor skills in children with PAE is important to ensure an accurate FASD diagnosis and develop appropriate therapeutic interventions for children with PAE-related fine motor impairments.

  2. Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

    Directory of Open Access Journals (Sweden)

    Santos Cláudia Maria Carvalho dos

    1998-01-01

    Full Text Available We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM in high-risk children, carried out in Rio de Janeiro.

  3. Developmental Programming: Impact of Excess Prenatal Testosterone on Intrauterine Fetal Endocrine Milieu and Growth in Sheep1

    OpenAIRE

    Veiga-Lopez, Almudena; Steckler, Teresa L.; Abbott, David H.; Welch, Kathleen B.; MohanKumar, Puliyur S.; Phillips, David J.; Refsal, Kent; Padmanabhan, Vasantha

    2010-01-01

    Prenatal testosterone excess in sheep leads to reproductive and metabolic disruptions that mimic those seen in women with polycystic ovary syndrome. Comparison of prenatal testosterone-treated sheep with prenatal dihydrotestosterone-treated sheep suggests facilitation of defects by androgenic as well as androgen-independent effects of testosterone. We hypothesized that the disruptive impact of prenatal testosterone on adult pathology may partially depend on its conversion to estrogen and cons...

  4. It’s More Than a Blood Test: Patients’ Perspectives on Noninvasive Prenatal Testing

    Directory of Open Access Journals (Sweden)

    Ruth M. Farrell

    2014-06-01

    Full Text Available Noninvasive prenatal testing (NIPT offers pregnant women a new risk assessment tool for fetal aneuploidy that is superior to conventional screening tests. We conducted focus groups with women who were currently pregnant or had recently delivered in the past year to characterize their perspectives about NIPT and to explore factors they would consider during decision making about its use. Women identified accuracy, early timing, testing ease, and determination of fetal sex as advantages of NIPT over other screens, and the noninvasive method of NIPT as an advantage over diagnostic tests. False positive and false negative results, anxiety, cost and insurance coverage were seen as disadvantages of NIPT. Women who do not want fetal aneuploidy information most likely will not undergo NIPT, despite its advantages over other screening tests. However, given its advantages, the decision to have NIPT is straightforward for women who want genetic information about the fetus. Women emphasized the need to make autonomous, private, and informed choices about NIPT, as they would with any prenatal genetic testing option. These perspectives may guide clinicians to conduct effective and clinically relevant counseling with pregnant women who consider utilizing this new genetic technology.

  5. MATERNAL ALCOHOL CONSUMPTION PRODUCING FETAL ALCOHOL SPECTRUM DISORDERS (FASD): QUANTITY, FREQUENCY, AND TIMING OF DRINKING

    Science.gov (United States)

    May, Philip A.; Blankenship, Jason; Marais, Anna-Susan; Gossage, J. Phillip; Kalberg, Wendy O.; Joubert, Belinda; Cloete, Marise; Barnard, Ronel; De Vries, Marlene; Hasken, Julie; Robinson, Luther K.; Adnams, Colleen M.; Buckley, David; Manning, Melanie; Parry, Charles; Hoyme, H. Eugene; Tabachnick, Barbara; Seedat, Soraya

    2013-01-01

    Background Concise, accurate measures of maternal prenatal alcohol use are needed to better understand fetal alcohol spectrum disorders (FASD). Methods Measures of drinking by mothers of children with specific FASD diagnoses and mothers of randomly-selected controls are compared and also correlated with physical and cognitive/behavioral outcomes. Results Measures of maternal alcohol use can differentiate maternal drinking associated with FASD from that of controls and some from mothers of alcohol-exposed normals. Six variables that combine quantity and frequency concepts distinguish mothers of FASD children from normal controls. Alcohol use variables, when applied to each trimester and three months prior to pregnancy, provide insight on critical timing of exposure as well. Measures of drinking, especially bingeing, correlate significantly with increased child dysmorphology and negative cognitive/behavioral outcomes in children, especially low non-verbal IQ, poor attention, and behavioral problems. Logistic regression links (palcohol consumption both within and between diagnostic groupings of mothers bearing children diagnosed within the FASD continuum. Drinking measures are empirically identified and correlated with specific child outcomes. Alcohol use, especially heavy use, should be avoided throughout pregnancy. PMID:23932841

  6. Prenatal exposition on ionizing radiations

    International Nuclear Information System (INIS)

    2001-01-01

    The Sessions on Prenatal Exposition on Ionizing Radiations was organized by the Argentine Radioprotection Society, in Buenos Aires, between 8 and 9, November 2001. In this event, were presented papers on: biological effects of ionizing radiation; the radiation protection and the pregnant woman; embryo fetal development and its relationship with the responsiveness to teratogens; radioinduced delayed mental; neonatal irradiation: neurotoxicity and modulation of pharmacological response; pre implanted mouse embryos as a model of uranium toxicity studies; hereditary effects of the radiation and new advances from the UNSCEAR 2001; doses estimation in embryo

  7. Prenatal RhD Testing : A Review of Studies Published from 2006 to 2008

    NARCIS (Netherlands)

    Legler, Tobias Joerg; Mueller, Sina Patricia; Haverkamp, Alexander; Grill, Simon; Hahn, Sinuhe

    2009-01-01

    The availability of noninvasive prenatal diagnosis for the fetal RhD status (NIPD RhD) is an obvious benefit for alloimmunized pregnant women. This review gives information about the performance characteristics of current diagnostic technologies and recent promising proof-of-principle studies.

  8. [Prenatal diagnosis. Review, personal and prospective studies].

    Science.gov (United States)

    Engel, E; Empson, J; DeLozier, D; McGee, B; da Costa Woodson, E; Engel-de Montmollin, M; Carter, T; Lorber, C; Cassidy, S B; Millis, J; Heller, R M; Boehm, F; Vanhooydonk, J

    1979-07-07

    instruments is particularly useful in cases where a severe fetal morphologic malformation cannot currently be identified by indirect visualization (ultrasound) or by analysis of cytogenetic or molecular markers. 6. Pathological accumulations of alpha-fetoprotein which are associated with diverse feto-placental abnormalities (particularly open malformations of the neural tube) can be detected in the amniotic fluid and/or maternal blood. In extension of this approach, it is foreseeable that conditions existing prenatally will be diagnosed in a growing number of cases from the study of fetal cells and molecules which can be isolated from the venous blood of pregnant women. This will become feasible as a result of some well-developed techniques which allow separation of fetal from maternal cells and metabolites, and also to some extremely fine analytic techniques, notably examination of the DNA itself by means of restriction enzymes.

  9. True Umbilical Cord Knot Leading to Fetal Demise | Ikechebelu ...

    African Journals Online (AJOL)

    The incidence of true knot of the umbilical cord is not only very low but it is often undiagnosed antenatally when present despite the availability of prenatal ultrasonography. When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. We report a very ...

  10. Developmental Programming: Impact of Prenatal Testosterone Excess on Steroidal Machinery and Cell Differentiation Markers in Visceral Adipocytes of Female Sheep.

    Science.gov (United States)

    Puttabyatappa, Muraly; Lu, Chunxia; Martin, Jacob D; Chazenbalk, Gregorio; Dumesic, Daniel; Padmanabhan, Vasantha

    2017-01-01

    Prenatal testosterone (T)-treated female sheep manifest reduced adipocyte size and peripheral insulin resistance. The small adipocyte phenotype may reflect defects in adipogenesis and its steroidal machinery. To test whether prenatal T treatment from gestational days 30 to 90 alters the visceral adipose tissue (VAT) steroidal machinery and reduces adipocyte differentiation, we examined expression of the steroidogenic enzymes, steroid receptors, and adipocyte differentiation markers at fetal day 90 and postnatal ages 10 and 21 months. Because gestational T treatment increases fetal T and maternal insulin, the contributions of these were assessed by androgen receptor antagonist or insulin sensitizer cotreatment, either separately (at fetal day 90 and 21 months of age time points) or together (10 months of age). The effects on adipogenesis were assessed in the VAT-derived mesenchymal stem cells (AT-MSCs) from pre- and postpubertal time points to evaluate the effects of pubertal steroidal changes on adipogenesis. Our results show that VAT manifests potentially a predominant estrogenic intracrine milieu (increased aromatase and estrogen receptor α) and reduced differentiation markers at fetal day 90 and postnatal 21 months of age. These changes appear to involve both androgenic and metabolic pathways. Preliminary findings suggest that prenatal T treatment reduces adipogenesis, decreases expression of differentiation, and increases expression of commitment markers at both pre- and postpubertal time points. Together, these findings suggest that (1) increased commitment of AT-MSCs to adipocyte lineage and decreased differentiation to adipocytes may underlie the small adipocyte phenotype of prenatal T-treated females and (2) excess T-induced changes in steroidal machinery in the VAT likely participate in the programming/maintenance of this defect.

  11. A tensor-based morphometry analysis of regional differences in brain volume in relation to prenatal alcohol exposure.

    Science.gov (United States)

    Meintjes, E M; Narr, K L; van der Kouwe, A J W; Molteno, C D; Pirnia, T; Gutman, B; Woods, R P; Thompson, P M; Jacobson, J L; Jacobson, S W

    2014-01-01

    Reductions in brain volumes represent a neurobiological signature of fetal alcohol spectrum disorders (FASD). Less clear is how regional brain tissue reductions differ after normalizing for brain size differences linked with FASD and whether these profiles can predict the degree of prenatal exposure to alcohol. To examine associations of regional brain tissue excesses/deficits with degree of prenatal alcohol exposure and diagnosis with and without correction for overall brain volume, tensor-based morphometry (TBM) methods were applied to structural imaging data from a well-characterized, demographically homogeneous sample of children diagnosed with FASD (n = 39, 9.6-11.0 years) and controls (n = 16, 9.5-11.0 years). Degree of prenatal alcohol exposure was significantly associated with regionally pervasive brain tissue reductions in: (1) the thalamus, midbrain, and ventromedial frontal lobe, (2) the superior cerebellum and inferior occipital lobe, (3) the dorsolateral frontal cortex, and (4) the precuneus and superior parietal lobule. When overall brain size was factored out of the analysis on a subject-by-subject basis, no regions showed significant associations with alcohol exposure. FASD diagnosis was associated with a similar deformation pattern, but few of the regions survived FDR correction. In data-driven independent component analyses (ICA) regional brain tissue deformations successfully distinguished individuals based on extent of prenatal alcohol exposure and to a lesser degree, diagnosis. The greater sensitivity of the continuous measure of alcohol exposure compared with the categorical diagnosis across diverse brain regions underscores the dose dependence of these effects. The ICA results illustrate that profiles of brain tissue alterations may be a useful indicator of prenatal alcohol exposure when reliable historical data are not available and facial features are not apparent.

  12. A tensor-based morphometry analysis of regional differences in brain volume in relation to prenatal alcohol exposure

    Directory of Open Access Journals (Sweden)

    E.M. Meintjes

    2014-01-01

    Full Text Available Reductions in brain volumes represent a neurobiological signature of fetal alcohol spectrum disorders (FASD. Less clear is how regional brain tissue reductions differ after normalizing for brain size differences linked with FASD and whether these profiles can predict the degree of prenatal exposure to alcohol. To examine associations of regional brain tissue excesses/deficits with degree of prenatal alcohol exposure and diagnosis with and without correction for overall brain volume, tensor-based morphometry (TBM methods were applied to structural imaging data from a well-characterized, demographically homogeneous sample of children diagnosed with FASD (n = 39, 9.6–11.0 years and controls (n = 16, 9.5–11.0 years. Degree of prenatal alcohol exposure was significantly associated with regionally pervasive brain tissue reductions in: (1 the thalamus, midbrain, and ventromedial frontal lobe, (2 the superior cerebellum and inferior occipital lobe, (3 the dorsolateral frontal cortex, and (4 the precuneus and superior parietal lobule. When overall brain size was factored out of the analysis on a subject-by-subject basis, no regions showed significant associations with alcohol exposure. FASD diagnosis was associated with a similar deformation pattern, but few of the regions survived FDR correction. In data-driven independent component analyses (ICA regional brain tissue deformations successfully distinguished individuals based on extent of prenatal alcohol exposure and to a lesser degree, diagnosis. The greater sensitivity of the continuous measure of alcohol exposure compared with the categorical diagnosis across diverse brain regions underscores the dose dependence of these effects. The ICA results illustrate that profiles of brain tissue alterations may be a useful indicator of prenatal alcohol exposure when reliable historical data are not available and facial features are not apparent.

  13. Noninvasive prenatal diagnosis for single gene disorders.

    Science.gov (United States)

    Allen, Stephanie; Young, Elizabeth; Bowns, Benjamin

    2017-04-01

    Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need for validation samples for rare disorders. Publications are emerging demonstrating a variety of technical approaches and feasibility of clinical application. Techniques for analysis of cell-free DNA including digital PCR, next-generation sequencing and relative haplotype dosage have been used most often for assay development. Analysis of circulating fetal cells in the maternal blood is still being investigated as a viable alternative and more recently transcervical trophoblast cells. Studies exploring ethical and social issues are generally positive but raise concerns around the routinization of prenatal testing. Further work is necessary to make testing available to all patients with a pregnancy at risk of a single gene disorder, and it remains to be seen if the development of more powerful technologies such as isolation and analysis of single cells will shift the emphasis of noninvasive prenatal diagnosis. As testing becomes possible for a wider range of conditions, more ethical questions will become relevant.

  14. Associations between Prenatal Exposure to Black Carbon and Memory Domains in Urban Children: Modification by Sex and Prenatal Stress.

    Science.gov (United States)

    Cowell, Whitney J; Bellinger, David C; Coull, Brent A; Gennings, Chris; Wright, Robert O; Wright, Rosalind J

    2015-01-01

    Whether fetal neurodevelopment is disrupted by traffic-related air pollution is uncertain. Animal studies suggest that chemical and non-chemical stressors interact to impact neurodevelopment, and that this association is further modified by sex. To examine associations between prenatal traffic-related black carbon exposure, prenatal stress, and sex with children's memory and learning. Analyses included N = 258 mother-child dyads enrolled in a Boston, Massachusetts pregnancy cohort. Black carbon exposure was estimated using a validated spatiotemporal land-use regression model. Prenatal stress was measured using the Crisis in Family Systems-Revised survey of negative life events. The Wide Range Assessment of Memory and Learning (WRAML2) was administered at age 6 years; outcomes included the General Memory Index and its component indices [Verbal, Visual, and Attention Concentration]. Relationships between black carbon and WRAML2 index scores were examined using multivariable-adjusted linear regression including effect modification by stress and sex. Mothers were primarily minorities (60% Hispanic, 26% Black); 67% had ≤12 years of education. The main effect for black carbon was not significant for any WRAML2 index; however, in stratified analyses, among boys with high exposure to prenatal stress, Attention Concentration Index scores were on average 9.5 points lower for those with high compared to low prenatal black carbon exposure (P3-way interaction = 0.04). The associations between prenatal exposure to black carbon and stress with children's memory scores were stronger in boys than in girls. Studies assessing complex interactions may more fully characterize health risks and, in particular, identify vulnerable subgroups.

  15. Organochlorine compounds and ultrasound measurements of fetal growth in the INMA cohort (Spain)

    NARCIS (Netherlands)

    M.-J. Lopez-Espinosa (Maria-Jose); M. Murcia (Mario); A. Iñiguez (Andrés); E. Vizcaino (Esther); O. Costa (Olga); A. Fernández-Somoano (Ana); M. Basterrechea (Mikel); A. Lertxundi (Aitana); M. Guxens Junyent (Mònica); M. Gascon (Mireia); F. Goñi-Irigoyen (Fernando); J.O. Grimalt (Joan O.); A. Tardón (Adonina); F. Ballester (Ferran)

    2016-01-01

    textabstractBackground: Several studies have reported decreases in birth size associated with exposure to organochlorine compounds (OCs), but uncertainties remain regarding the critical windows of prenatal exposure and the effects on fetal body segments. Objective: We examined the relationship

  16. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

    Directory of Open Access Journals (Sweden)

    Javier Sánchez

    2012-01-01

    Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

  17. Prenatal Diagnosis of Isolated Fetal Hydrocolpos Secondary to Congenital Imperforate Hymen

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2008-06-01

    Full Text Available A 32-year-old primigravida was referred to our hospital at 36 weeks of gestation with a fetal pelvic mass. Ultrasonography showed the fluid-filled area to be a 9 × 4 × 5-cm pear-shaped retrovesical mass with a funnel-shaped blind pouch at the distal end of the fetal vagina. Marked left hydronephrosis resulting from mass compression was also detected. Fetal magnetic resonance imaging further defined a pelvic lesion extending cephalically into the abdomen and caudally into the vagina. Membranal protrusion of the introitus was clearly identified. Therefore, the diagnosis of congenital imperforate hymen with hydrocolpos was established. At 38 weeks of gestation, a 2,966-g female infant was delivered vaginally with good Apgar scores. Physical examination of the neonate revealed a bulging membrane covering the vaginal opening. The presence of syndromic disorders (McKusick-Kaufman, Ellis-van Creveld or Bardet-Biedl syndromes, genitourinary and anorectal anomalies were excluded. The karyotype was 46, XX. A hymenotomy was performed on the second day of life. The infant recovered fully after hymenotomy.

  18. Three- and four-dimensional ultrasound in fetal echocardiography: an up-to-date overview

    NARCIS (Netherlands)

    Adriaanse, B.M.; Vugt, J.M.G. van; Haak, M.C.

    2016-01-01

    Congenital heart diseases (CHD) are the most commonly overlooked lesions in prenatal screening programs. Real-time two-dimensional ultrasound (2DUS) is the conventionally used tool for fetal echocardiography. Although continuous improvements in the hardware and post-processing software have resulted

  19. Prenatal diagnosis of homozygous familial hypercholesterolaemia

    International Nuclear Information System (INIS)

    Brown, M.S.; Kovanen, P.T.; Goldstein, J.L.; Eeckels, R.; Vandenberghe, K.; Van Den Berghe, H.; Fryns, J.P.; Cassiman, J.J.

    1978-01-01

    Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125 I-L.D.L. Functional consequences of L.D.L. binding to the receptor - i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification - were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life. (author)

  20. [Factors associated with the quality of prenatal care: an approach to premature birth].

    Science.gov (United States)

    Melo, Emiliana Cristina; Oliveira, Rosana Rosseto de; Mathias, Thais Aidar de Freitas

    2015-08-01

    To assess the quality of prenatal care in mothers with premature and term births and identify maternal and gestational factors associated with inadequate prenatal care. Cross-sectional study collecting data with the pregnant card, hospital records and interviews with mothers living in Maringa-PR. Data were collected from 576 mothers and their born alive infants who were attended in the public service from October 2013 to February 2014, using three different evaluation criteria. The association of prenatal care quality with prematurity was performed by univariate analysis and occurred only at Kessner criteria (CI=1.79;8.02). The indicators that contributed most to the inadequacy of prenatal care were tests of hemoglobin, urine, and fetal presentation. After logistic regression analysis, maternal and gestational variables associated to inadequate prenatal care were combined prenatal (CI=2.93;11.09), non-white skin color (CI=1.11;2.51); unplanned pregnancy (CI=1.34;3.17) and multiparity (CI=1.17;4.03). Prenatal care must follow the minimum recommended protocols, more attention is required to black and brown women, multiparous and with unplanned pregnancies to prevent preterm birth and maternal and child morbimortality.

  1. Clients’ psychosocial communication and midwives’ verbal and nonverbal communication during prenatal counseling for anomaly screening.

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van

    2016-01-01

    Objectives: This study focuses on facilitation of clients’ psychosocial communication during prenatal counseling for fetal anomaly screening. We assessed how psychosocial communication by clients is related to midwives’ psychosocial and affective communication, client-directed gaze and counseling

  2. Developmental programming: deficits in reproductive hormone dynamics and ovulatory outcomes in prenatal, testosterone-treated sheep.

    Science.gov (United States)

    Veiga-Lopez, A; Ye, W; Phillips, D J; Herkimer, C; Knight, P G; Padmanabhan, V

    2008-04-01

    Prenatal testosterone excess leads to neuroendocrine, ovarian, and metabolic disruptions, culminating in reproductive phenotypes mimicking that of women with polycystic ovary syndrome (PCOS). The objective of this study was to determine the consequences of prenatal testosterone treatment on periovulatory hormonal dynamics and ovulatory outcomes. To generate prenatal testosterone-treated females, pregnant sheep were injected intramuscularly (days 30-90 of gestation, term=147 days) with 100 mg of testosterone-propionate in cottonseed oil semi-weekly. Female offspring born to untreated control females and prenatal testosterone-treated females were then studied during their first two breeding seasons. Sheep were given two injections of prostaglandin F2alpha 11 days apart, and blood samples were collected at 2-h intervals for 120 h, 10-min intervals for 8 h during the luteal phase (first breeding season only), and daily for an additional 15 days to characterize changes in reproductive hormonal dynamics. During the first breeding season, prenatal testosterone-treated females manifested disruptions in the timing and magnitude of primary gonadotropin surges, luteal defects, and reduced responsiveness to progesterone negative feedback. Disruptions in the periovulatory sequence of events during the second breeding season included: 1) delayed but increased preovulatory estradiol rise, 2) delayed and severely reduced primary gonadotropin surge in prenatal testosterone-treated females having an LH surge, 3) tendency for an amplified secondary FSH surge and a shift in the relative balance of FSH regulatory proteins, and 4) luteal responses that ranged from normal to anovulatory. These outcomes are likely to be of relevance to developmental origin of infertility disorders and suggest that differences in fetal exposure or fetal susceptibility to testosterone may account for the variability in reproductive phenotypes.

  3. Antenatal management of recurrent fetal goitrous hyperthyroidism associated with fetal cardiac failure in a pregnant woman with persistent high levels of thyroid-stimulating hormone receptor antibody after ablative therapy.

    Science.gov (United States)

    Matsumoto, Tadashi; Miyakoshi, Kei; Saisho, Yoshifumi; Ishii, Tomohiro; Ikenoue, Satoru; Kasuga, Yoshifumi; Kadohira, Ikuko; Sato, Seiji; Momotani, Naoko; Minegishi, Kazuhiro; Yoshimura, Yasunori

    2013-01-01

    High titer of maternal thyroid-stimulating hormone receptor antibody (TRAb) in patients with Graves' disease could cause fetal hyperthyroidism during pregnancy. Clinical features of fetal hyperthyroidism include tachycardia, goiter, growth restriction, advanced bone maturation, cardiomegaly, and fetal death. The recognition and treatment of fetal hyperthyroidism are believed to be important to optimize growth and intellectual development in affected fetuses. We herein report a case of fetal treatment in two successive siblings showing in utero hyperthyroid status in a woman with a history of ablative treatment for Graves' disease. The fetuses were considered in hyperthyroid status based on high levels of maternal TRAb, a goiter, and persistent tachycardia. In particular, cardiac failure was observed in the second fetus. With intrauterine treatment using potassium iodine and propylthiouracil, fetal cardiac function improved. A high level of TRAb was detected in the both neonates. To the best of our knowledge, this is the first report on the changes of fetal cardiac function in response to fetal treatment in two siblings showing in utero hyperthyroid status. This case report illustrates the impact of prenatal medication via the maternal circulation for fetal hyperthyroidism and cardiac failure.

  4. Screening for fetal growth restriction using fetal biometry combined with maternal biomarkers.

    Science.gov (United States)

    Gaccioli, Francesca; Aye, Irving L M H; Sovio, Ulla; Charnock-Jones, D Stephen; Smith, Gordon C S

    2018-02-01

    Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Systematic reviews of randomized controlled trials do not demonstrate any benefit from universal ultrasound screening for fetal growth restriction in the third trimester, but the evidence base is not strong. Implementation of universal ultrasound screening in low-risk women in France failed to reduce the risk of complications among small-for-gestational-age infants but did appear to cause iatrogenic harm to false positives. One strategy to making progress is to improve screening by developing more sensitive and specific tests with the key goal of differentiating between healthy small fetuses and those that are small through fetal growth restriction. As abnormal placentation is thought to be the major cause of fetal growth restriction, one approach is to combine fetal biometry with an indicator of placental dysfunction. In the past, these indicators were generally ultrasonic measurements, such as Doppler flow velocimetry of the uteroplacental circulation. However, another promising approach is to combine ultrasonic suspicion of small-for-gestational-age infant with a blood test indicating placental dysfunction. Thus far, much of the research on maternal serum biomarkers for fetal growth restriction has involved the secondary analysis of tests performed for other indications, such as fetal aneuploidies. An exemplar of this is pregnancy-associated plasma protein A. This blood test is performed primarily to assess the risk of Down syndrome, but women with low first-trimester levels are now serially scanned in later pregnancy due to associations with placental causes of

  5. Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

    Directory of Open Access Journals (Sweden)

    Michail Varras

    2010-07-01

    Full Text Available Michail Varras1, Christodoulos Akrivis21Obstetrics and Gynecology Department, “Elena Venizelou” General Maternity Hospital, Athens; 2Obstetrics and Gynecology Department, “G Chatzikosta” General State Hospital, Ioannina, GreeceAbstract: Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks’ gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.Keywords: hemivertebra, congenital scoliosis, prenatal diagnosis, ultrasonography

  6. Prenatal Brain MR Imaging: Reference Linear Biometric Centiles between 20 and 24 Gestational Weeks.

    Science.gov (United States)

    Conte, G; Milani, S; Palumbo, G; Talenti, G; Boito, S; Rustico, M; Triulzi, F; Righini, A; Izzo, G; Doneda, C; Zolin, A; Parazzini, C

    2018-05-01

    Evaluation of biometry is a fundamental step in prenatal brain MR imaging. While different studies have reported reference centiles for MR imaging biometric data of fetuses in the late second and third trimesters of gestation, no one has reported them in fetuses in the early second trimester. We report centiles of normal MR imaging linear biometric data of a large cohort of fetal brains within 24 weeks of gestation. From the data bases of 2 referral centers of fetal medicine, accounting for 3850 examinations, we retrospectively collected 169 prenatal brain MR imaging examinations of singleton pregnancies, between 20 and 24 weeks of gestational age, with normal brain anatomy at MR imaging and normal postnatal neurologic development. To trace the reference centiles, we used the CG-LMS method. Reference biometric centiles for the developing structures of the cerebrum, cerebellum, brain stem, and theca were obtained. The overall interassessor agreement was adequate for all measurements. Reference biometric centiles of the brain structures in fetuses between 20 and 24 weeks of gestational age may be a reliable tool in assessing fetal brain development. © 2018 by American Journal of Neuroradiology.

  7. Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses

    Directory of Open Access Journals (Sweden)

    Khaled R. Gaber

    2015-04-01

    Conclusion: Early prenatal screening and diagnosis, through a systematic multidisciplinary approach, to all cases of mucopolysaccharidoses are recommended, to improve the quality of life and to avoid the presence of other associated fetal developmental malformations.

  8. Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

    Science.gov (United States)

    Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

    2016-05-01

    Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

  9. Prenatal alcohol exposure, CYP17 gene polymorphisms and fetal growth restriction

    NARCIS (Netherlands)

    Delpisheh, Ali; Topping, Joanne; Reyad, Manal; Tang, Aiwei; Brabin, Bernard J.

    2008-01-01

    OBJECTIVE: To determine the association of maternal CYP17 gene polymorphisms and prenatal alcohol consumption with intrauterine growth restriction (IUGR). STUDY DESIGN: A case-control study in singleton livebirths was conducted at the Liverpool Women's Hospital between 2004 and 2005. Cases (n=90)

  10. Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells

    Institute of Scientific and Technical Information of China (English)

    WU Ting; DING Xin-sheng; LI Wen-lei; YAO Juan; DENG Xiao-xuan

    2005-01-01

    Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord.The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients.This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.Methods Prenatal diagnosis was made in 8 fetuses with a family history of SMA.Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.Results The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA.Two fetuses were detected positive and the pregnancies were terminated.Conclusion Our method is effective and convenient in prenatal diagnosis of SMA.

  11. Normal renal development investigated with fetal MRI

    International Nuclear Information System (INIS)

    Witzani, Linde; Brugger, Peter Christian; Hoermann, Marcus; Kasprian, Gregor; Csapone-Balassy, Csilla; Prayer, Daniela

    2006-01-01

    Objective: To evaluate age-dependent changes in fetal kidney measurements with MRI. Patients and methods: Fetal MRI examinations were used to study the kidney length (218 fetuses), signal intensities of renal tissue, renal pelvis, and liver tissue on T2-weighted images (223 fetuses), and the whole-kidney apparent diffusion coefficient (107 fetuses). A 1.5 T superconducting unit with a phased array coil was used in patients from 16 to 39 weeks' gestation. The imaging protocol included T2-weighted single-shot fast spin-echo, T2-weighted balanced angiography and diffusion-weighted sequences. Slice thickness ranged from 3 to 5 mm. Results: Fetal kidney length as a function of gestational age was expressed by the linear regression: kidney length (mm) = 0.190 x gestational age (d) - 8.034 (R 2 0.883, p 2 /s) = 0.0302 x square (gestational age (d)) - 14.202 x gestational age (d) + 2728.6 (R 2 = 0.225, p < 0.001). Conclusion: The length, signal intensity on T2-weighted images, and apparent diffusion coefficient of the fetal kidney change significantly with gestational age. The presented data may help in the prenatal diagnosis of renal anomalies

  12. Food, growth and time: Elsie Widdowson's and Robert McCance's research into prenatal and early postnatal growth.

    Science.gov (United States)

    Buklijas, Tatjana

    2014-09-01

    Cambridge scientists Robert McCance and Elsie Widdowson are best known for their work on the British food tables and wartime food rations, but it is their research on prenatal and early postnatal growth that is today seen as a foundation of the fields studying the impact of environment upon prenatal development and, consequently, adult disease. In this essay I situate McCance's and Widdowson's 1940s human and 1950s experimental studies in the context of pre-war concerns with fetal growth and development, especially within biochemistry, physiology and agriculture; and the Second World War and post-war focus on the effects of undernutrition during pregnancy upon the fetus. I relate Widdowson's and McCance's research on the long-term effects of early undernutrition to the concern with recovery from early trauma so pertinent in post-war Europe and with sensitive (critical) periods, a concept of high importance across different fields. Finally I discuss how, following a hiatus in which fetal physiology engaged with different questions and stressed fetal autonomy, interest in the impact of environment upon prenatal growth and development revived towards the end of the twentieth century. The new field of "developmental origins of health and disease", I suggest, has provided a context in which Widdowson's and McCance's work has regained importance. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Application of ultrasound in fetal cardiac abnormalitis screening and analyzing of influencing factors

    International Nuclear Information System (INIS)

    Wu Wei; Chen Hui; Guo Hua; Fu Lijuan

    2009-01-01

    Objective: To identify the application value of ultrasound in the screening of fetal cardiac abnormalities and to reduce its affecting factors, in order to maximally decrease the birth of oaf. Methods: Adopting the method of four chamber hearts cross-section and sound beam plane head laterodeviation, 3821 fetal hearts were screened by ultrasonocardiography in middle and late fetal period. The influencing factors were also analyzed. Screening results were compared with the autopsy following induced labor and the ultrasonocardiogram after borne. Results: Total 23 cases of the cardiac anomalies were confirmed by odinopoeia or after borned, 21 cases were diagnosed by antepartum ultrasonocardiography, the detectable rate were 91.3%(21/23). And the complex cardiac anomalies were 19 cases, accounted for 82.61%(19/23), the general malformation were 4 cases, accounted for 17.39%(4/23). In 19 cases of the complex anomalies, 17 cases were diagnosed by antepartum examination in the first time, 2 cases were diagnosed by reexamination, the total detectable rate were 100%(19/19). Conclusion: Ultrasonography is not only non-invasive but also unique method in detecting fetal heart defects. It will help to diagnose definitely the vast majority of congenital malformation in the fetal heart, especially complex malformation in the middle and later fetal period. There are some limitations and chronergy in ultrasonography for the screening of fetal heart defects, which should be followed-up when the fetal appeared 'normal' in the early screening. (authors)

  14. Fetal programming and environmental exposures ...

    Science.gov (United States)

    Fetal programming is an enormously complex process that relies on numerous environmental inputs from uterine tissue, the placenta, the maternal blood supply, and other sources. Recent evidence has made clear that the process is not based entirely on genetics, but rather on a delicate series of interactions between genes and the environment. It is likely that epigenctic (“above the genome”) changes are responsible for modifying gene expression in the developing fetus, and these modifications can have long-lasting health impacts. Determining which epigenetic regulators are most vital in embryonic development will improve pregnancy outcomes and our ability to treat and prevent disorders that emerge later in life. “Fetal Programming and Environmental Exposures: Implications for Prenatal Care and Preterm Birth’ began with a keynote address by Frederick vom Saal, who explained that low-level exposure to endocrine disrupting chemicals (EDCs) perturbs hormone systems in utero and can have negative effects on fetal development. vom Saal presented data on the LOC bisphenol A (BPA), an estrogen-mimicking compound found in many plastics. He suggested that low-dose exposure to LOCs can alter the development process and enhance chances of acquiring adult diseases, such as breastcancer, diabetes, and even developmental disorders such as attention deficit disorder (ADHD).’ Fetal programming is an enormously complex process that relies on numerous environmental inputs

  15. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

  16. The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia.

    Science.gov (United States)

    Patel, S; Suchet, I

    2004-11-01

    Sirenomelia is a rare congenital abnormality characterized by a variety of anomalies involving the lower limbs, severe oligohydramnios, bilateral renal agenesis, anorectal atresia and aberrant fetal vasculature. The prenatal diagnosis and differentiation from isolated bilateral renal agenesis is severely limited by the accompanying oligohydramnios that hinders visualization of fetal anatomy. We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome.

  17. Audit of prenatal and postnatal diagnosis of isolated open spina bifida in three university hospitals in The Netherlands

    NARCIS (Netherlands)

    Olde Scholtenhuis, M. A. G.; Cohen-Overbeek, T. E.; Offringa, M.; Barth, P. G.; Stoutenbeek, Ph; Gooskens, R. H.; Wladimiroff, J. W.; Bilardo, C. M.

    2003-01-01

    Objective To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. Methods A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was

  18. Fetal origin of vascular aging

    Directory of Open Access Journals (Sweden)

    Shailesh Pitale

    2011-01-01

    Full Text Available Aging is increasingly regarded as an independent risk factor for development of cardiovascular diseases such as atherosclerosis and hypertension and their complications (e.g. MI and Stroke. It is well known that vascular disease evolve over decades with progressive accumulation of cellular and extracellular materials and many inflammatory processes. Metabolic syndrome, obesity and diabetes are conventionally recognized as risk factors for development of coronary vascular disease (CVD. These conditions are known to accelerate ageing process in general and vascular ageing in particular. Adverse events during intrauterine life may programme organ growth and favour disease later in life, popularly known as, ′Barker′s Hypothesis′. The notion of fetal programming implies that during critical periods of prenatal growth, changes in the hormonal and nutritional milieu of the conceptus may alter the full expression of the fetal genome, leading to permanent effects on a range of physiological.

  19. Prenatal stress, prematurity and asthma

    Science.gov (United States)

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C.

    2016-01-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the U.S. and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic Blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced “premature asthma”. Prenatal stress may not only cause abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring Th2 (allergic) immune responses characteristic of atopic asthma: IL-6, which has been associated with premature labor, can promote Th2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing “premature asthma”. If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common co-morbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (e.g. from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  20. Imaging of fetal chest masses

    Energy Technology Data Exchange (ETDEWEB)

    Barth, Richard A. [Lucile Packard Children' s Hospital, Stanford University School of Medicine, Department of Radiology, Stanford, CA (United States)

    2012-01-15

    Prenatal imaging with high-resolution US and rapid acquisition MRI plays a key role in the accurate diagnosis of congenital chest masses. Imaging has enhanced our understanding of the natural history of fetal lung masses, allowing for accurate prediction of outcome, parental counseling, and planning of pregnancy and newborn management. This paper will focus on congenital bronchopulmonary malformations, which account for the vast majority of primary lung masses in the fetus. In addition, anomalies that mimic masses and less common causes of lung masses will be discussed. (orig.)