WorldWideScience

Sample records for prenatal ultrasound diagnosis

  1. Ultrasound prenatal diagnosis of congenital primary aphakia: case report

    Science.gov (United States)

    Di Meglio, Filippo; Vascone, Carmine; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Valenti, Gaetano; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Cianci, Stefano

    2015-01-01

    Introduction the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. Case report we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. Conclusion a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required. PMID:26918094

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  3. 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 u...

  4. Prenatal ultrasound - slideshow

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series—Procedure, part 1 To use the sharing ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  5. 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

  6. [Prenatal ultrasound diagnosis of complex heart abnormality in routine screening].

    Science.gov (United States)

    Kronich, W; Salzer-Muhar, U; Strigl, E; Gerstner, G J

    1990-02-01

    Case report on a severe cardial malformation associated with trisomia 21, diagnosed by ultrasound-screening in the 34th week of gestation. Further diagnostic evaluation of the case and therapeutic management are described. The problems of modern malformation diagnostics by routine ultrasound scanning in pregnancy are discussed.

  7. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

    Science.gov (United States)

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov-Smirnov test. For the variables "prenatal diagnoses" and "days from the start of the treatment" the Mann-Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient.

  8. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

    Science.gov (United States)

    Castiñeyra, G; Panal, M; Lopez Presas, H; Goldschmidt, E; Sánchez, J M

    1992-01-01

    A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome. Images PMID:1619643

  9. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2012-03-01

    Full Text Available Abstract Background We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS (http://www.Illumina.com analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection. Pre-test genetic counselling was offered in all cases. In 24/207 (11,6% foetuses a clinically relevant genetic abnormality was detected. Only 8/24 abnormalities would have been detected if only routine karyotyping was performed. Submicroscopic abnormalities were found in 16/207 (7,7% cases. The array results were achieved within 1-2 weeks after amniocentesis. Conclusions Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (~0.15 Mb in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (~ > 5 Mb. Since karyotyping would have missed 66% (16/24 of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound abnormalities.

  10. 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.)

  11. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

    Directory of Open Access Journals (Sweden)

    Bhawna Satija

    2015-01-01

    Full Text Available Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG with color Doppler (CDUS and magnetic resonance imaging (MRI in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV, and negative predictive value (NPV were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta. All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity. MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity and absence of placenta accreta in 17 out of 22 patients (77.3% specificity. There were no statistical differences in sensitivity (P = 1.00 and specificity (P = 0.687 between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta

  12. Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study

    Science.gov (United States)

    Satija, Bhawna; Kumar, Sanyal; Wadhwa, Leena; Gupta, Taru; Kohli, Supreethi; Chandoke, Rajkumar; Gupta, Pratibha

    2015-01-01

    Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management. Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup. To compare the accuracy of ultrasound (USG) with color Doppler (CDUS) and magnetic resonance imaging (MRI) in prenatal diagnosis of placenta accreta. Settings and Design: Prospective study in a tertiary care setup. Materials and Methods: A prospective study was conducted on pregnant females with high clinical risk of placenta accreta. Antenatal diagnosis was established based on CDUS and MRI. The imaging findings were compared with final diagnosis at the time of delivery and/or pathologic examination. Statistical Analysis Used: The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated for both CDUS and MRI. The sensitivity and specificity values of USG and MRI were compared by the McNemar test. Results: Thirty patients at risk of placenta accreta underwent both CDUS and MRI. Eight cases of placenta accreta were identified (3 vera, 4 increta, and 1 percreta). All patients had history of previous cesarean section. Placenta previa was present in seven out of eight patients. USG correctly identified the presence of placenta accreta in seven out of eight patients (87.5% sensitivity) and the absence of placenta accreta in 19 out of 22 patients (86.4% specificity). MRI correctly identified the presence of placenta accreta in 6 out of 8 patients (75.0% sensitivity) and absence of placenta accreta in 17 out of 22 patients (77.3% specificity). There were no statistical differences in sensitivity (P = 1.00) and specificity (P = 0.687) between USG and MRI. Conclusions: Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however

  13. Prenatal Diagnosis of Amniotic Band Syndrome in the Third Trimester of Pregnancy using 3D Ultrasound

    Directory of Open Access Journals (Sweden)

    Luciano Marcondes Machado Nardozza

    2012-01-01

    Full Text Available Amniotic band syndrome is characterized by a build-up of bands and strings of fibrous tissue that adhere to the fetus and can compress parts of the fetus, thus causing malformations and even limb amputation while the fetus is still in the uterus. The clinical manifestations are extremely variable and their extent may range from a single abnormality, like a constriction ring, to multiple abnormalities. Such abnormalities are generally diagnosed at the end of the first or the beginning of the second trimester using two-dimensional ultrasonography (2DUS. Three-dimensional ultrasonography (3DUS in rendering mode allows spatial analysis of the fetus and amniotic band, thus enabling better comprehension of this pathological condition and better counseling for the parents. There has not previously been any evidence to show that 3DUS would be useful in cases of late diagnosis (third trimester of amniotic band syndrome. In the present case, a primigravid woman underwent her second obstetric ultrasound scan in the 34 th week, from which we observed two bands in contact with the right forearm, but with normal movement of this limb and its fingers. 3DUS made it possible to see the spatial relationship of these bands to the fetal body, thereby confirming their adherence to the limb. After the birth, the prenatal diagnosis of amniotic band syndrome without limb constriction was confirmed. A surgical procedure was carried out on the third day after birth to excise the bands, and the newborn was then discharged in a good general condition.

  14. [Telecommunication--a medium for improving prenatal diagnosis and gynecologic ultrasound diagnosis? Initial experiences].

    Science.gov (United States)

    Sohn, C; Beldermann, F; Wallwiener, D; Lepold, H; Bastert, G

    1997-01-01

    To establish the requirements for real-time transfer of an ultrasound examination via telecommunication network the following tests were performed: The ultrasound data were transferred from the video out of an ultrasound system to a basis terminal of the German Telekom. Simultaneously, an external video camera filmed the positioning and movements of the ultrasound transducer, and the verbal comments were recorded. These informations were transmitted to Karlsruhe and London, where they were rerouted to the examination room in Heidelberg. Here the informations were received on a Telecom reception unit/terminal and compared directly with the initial signal. The quality was sufficient if the moving ultrasound images and the camera image of the transducer as well as the oral comment were transmitted over 2 parallel ISDN lines. The delay to a real-time transmission of the examination process is only in the range of milliseconds. If only one ISDN line is used, the image quality is unsatisfactory, three parallel lines do not bring significant improvement of image quality. Telemedicine seems a new possibility to bring the knowledge of specialized centers to the practicing gynaecologists thus avoiding unnecessary referrals. Still unanswered, however, are the problem of liability, data protection and costs.

  15. 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counselling.

    Science.gov (United States)

    Lazebnik, N; Filkins, K A; Jackson, C L; Linn, K B; Doshi, N N; Hogge, W A

    1996-11-01

    The purpose of this study was to assess the benefit of ultrasound evaluation for fetuses with prenatally diagnosed 45,X/46,XY mosaicism. The charts of all patients who underwent chorionic villus sampling and/or amniocentesis between 1 March 1990 and 31 October 1995 were screened for 45,X/46,XY mosaicism. Cases were divided on the basis of the results of the confirmatory amniocentesis into two groups: (1) confined placental mosaicism (n = 4); and (2) true fetal 45,X/46,XY mosaicism (n = 4). All patients underwent high-resolution detailed ultrasound study between 16 and 22 weeks. If the initial ultrasound study failed to visualize fetal genitalia, scanning was repeated in 2 weeks. Chromosome analysis was carried out on the newborn's skin to confirm the prenatal result. Six cases were found to have 45,X/46,XY mosaicism on chorionic villus sampling. Amniocentesis indicated a normal 46,XY male karyotype for three fetuses and true fetal 45,X/46,XY mosaicism for two cases. One patient declined follow-up amniocentesis. At birth, this newborn was documented to have normal male genitalia and a 46,XY karyotype. An additional two cases underwent amniocentesis only and were documented to have 45,X/46,XY mosaicism. High-resolution detailed ultrasound study between 16 and 22 weeks revealed seven fetuses with normal male genitalia and one fetus with ambiguous genitalia. Of the four neonates with true 45,X/46,XY mosaicism this was the only one found to have ambiguous genitalia. We conclude that the work-up of patients with 45,X/46,XY mosaicism should include ultrasound study to look for ambiguous genitalia. This allows appropriate counselling regarding the natural history of the condition and aids in the planning for management in the postnatal period.

  16. Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.

    Science.gov (United States)

    Tonni, Gabriele; Centini, Giovanni; Bonasoni, Maria Paola; Ventura, Alessandro; Pattacini, Pierpaolo; Cavalli, Pietro

    2012-12-01

    Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH.

    Science.gov (United States)

    Kolarski, Milenko; Joksić, Gordana; Beres, Maja; Krstić, Aleksandar; Joksić, Ivana; Dobrojević, Boris; Nikić, Slavko

    2009-03-01

    We report the first case of Pallister-Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically. Fetal karyotype obtained by GTG banding of amniocytes revealed mosaic female karyotype 46,XX/47,XX,+mar (F-like). C-banding indicated that F-like marker does not belong to F, E or G chromosomal group. Employing targeted FISH with arm-specific probe for chromosome 12, tetrasomy 12p was confirmed. Fetal lymphocytes revealed normal female karyotype. This case showed that i(12p) could be found in pregnancy of young woman, not only in those of advanced age, as usually reported in the literature. This case also showed that intrauterine growth restriction could be one of the ultrasound markers associated with Pallister-Killian syndrome.

  19. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna; Bulas, Dorothy I. [Children' s National Health System, Department of Radiology, Washington, DC (United States)

    2016-05-15

    Craniosynostosis syndromes are uncommonly encountered in the prenatal period. Identification is challenging but important for family counseling and perinatal management. This series examines prenatal findings in craniosynostosis syndromes, comparing the complementary roles of US and MRI and emphasizing clues easily missed in the second trimester. Six prenatal cases evaluated from 2002 through 2011 were retrospectively reviewed. Referral history, gestational age, and sonographic and MRI findings were reviewed by three pediatric radiologists. Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. The gestational age at evaluation ranged from 21 to 33 weeks. All six were evaluated by MRI and US, with two undergoing repeat evaluation in the third trimester, yielding a total of eight MRIs and US exams. The referral history suggested cloverleaf skull in two cases but did not suggest craniosynostosis syndrome in any case. In four, the referral suggested central nervous system (CNS) findings that were not confirmed by MRI; additional CNS findings were discovered in the remaining two. In four cases, developing turricephaly resulted in a characteristic ''lampshade'' contour of the fetal head. Hypertelorism and proptosis were present in five, with proptosis better appreciated by MRI. Digit abnormalities were present in all, seen equally well by MRI and US. Lung abnormalities in the second trimester in one fetus resolved by the third trimester. Prenatal diagnosis of craniosynostosis syndromes is difficult prior to the third trimester. MRI and US have complementary roles in evaluation of these patients. (orig.)

  20. Prenatal diagnosis of hemimegalencephaly.

    Science.gov (United States)

    Lang, Shih-Shan; Goldberg, Ethan; Zarnow, Deborah; Johnson, Mark P; Storm, Phillip B; Heuer, Gregory G

    2014-01-01

    In recent literature, there have been case reports of prenatal diagnosis of hemimegalencephaly, an extremely rare entity characterized by enlargement of all or portions of 1 cerebral hemisphere and intractable seizures. A unique case is presented of hemimegalencephaly of a fetus diagnosed in utero. A 27-year-old woman presented at 32 weeks' gestation for fetal magnetic resonance imaging after an abnormal fetal ultrasound. Fetal magnetic resonance imaging showed hemimegalencephaly of the left cerebral hemisphere with abnormal gyration. The patient was born via cesarean section at 39 weeks' gestation. He had continuous infantile spasms and partial-onset seizures starting on day 1 of life, and electroencephalography showed burst suppression. The patient's seizures were initially managed with antiepileptics, prednisolone, and a ketogenic diet; however, he was hospitalized multiple times because of status epilepticus. At 6 months of age, he underwent a successful anatomic left hemispherectomy. In utero diagnosis of complex developmental brain anomalies allows a multidisciplinary approach to provide optimal prenatal patient treatment and parental counseling. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Fetal brain tumors: Prenatal diagnosis by ultrasound and magnetic resonance imaging

    Institute of Scientific and Technical Information of China (English)

    Hérbene; José; Milani; Edward; Araujo; Júnior; Sérgio; Cavalheiro; Patrícia; Soares; Oliveira; Wagner; Jou; Hisaba; Enoch; Quinderé; Sá; Barreto; Maurício; Mendes; Barbosa; Luciano; Marcondes; Nardozza; Antonio; Fernandes; Moron

    2015-01-01

    Congenital central nervous system tumors diagnosed during pregnancy are rare, and often have a poor prognosis. The most frequent type is the teratoma. Use of ultrasound and magnetic resonance image allows the suspicion of brain tumors during pregnancy. However, the definitive diagnosis is only confirmed after birth by histology. The purpose of this mini-review article is to describe the general clinical aspects of intracranial tumors and describe the main fetal brain tumors.

  2. A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound

    Directory of Open Access Journals (Sweden)

    Gollop Thomaz Rafael

    1999-01-01

    Full Text Available Fetal hydantoin syndrome (FHS is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase, vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility.

  3. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    Science.gov (United States)

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  4. 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.

  5. Prenatal Diagnosis of Arachnoid Cysts

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-09-01

    Full Text Available Arachnoid cysts are a rare central nervous system malformation, representing only 1% of all intracranial masses in newborns. Primary (congenital arachnoid cysts are benign accumulation of clear fluid between the dura and the brain substance throughout the cerebrospinal axis in relation to the arachnoid membrane and do not communicate with the subarachnoid space. Secondary (acquired arachnoid cysts result from hemorrhage, trauma, and infection and usually communicate with the subarachnoid space. The common locations of arachnoid cysts are the surface of the brain at the level of main brain fissures, such as sylvian, rolandic and interhemispheric fissures, sella turcica, the anterior cranial fossa, and the middle cranial fossa. Arachnoid cysts may be associated with ventriculomegaly and dysgenesis of corpus callosum. Prenatal ultrasound and magnetic resonance imaging have led to the increased diagnosis of fetal arachnoid cysts. This article provides a thorough review of fetal arachnoid cysts, including prenatal diagnosis, differential diagnosis and associated chromosomal abnormalities, as well as comprehensive illustrations of perinatal imaging findings of fetal arachnoid cysts. Prenatal diagnosis of intracranial hypoechoic lesions should include a differential diagnosis of arachnoid cysts and prompt genetic investigations.

  6. Prenatal Diagnosis of WAGR Syndrome

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.

  7. Human prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    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.

  8. Prenatal diagnosis of a giant foetal lymphangioma and haemangiolymphoma in the second trimester using 2D and 3D ultrasound.

    Science.gov (United States)

    Mittermayer, C; Blaicher, W; Deutinger, J; Bernaschek, G; Lee, A

    2003-12-01

    Lymphangiomas are benign tumours of the lymphatic system. Early prenatal diagnosis is important to permit a planned delivery and provide adequate postnatal care. It thereby improves prognosis and allows the option of terminating the pregnancy if poor outcome is predicted. We report two cases, a giant haemangiolymphoma and a lymphangioma. 2D and 3D US findings are presented and differential diagnosis, therapeutic options and prognosis are discussed.

  9. A case of ultrasound-guided prenatal diagnosis of prune belly syndrome in Papua New Guinea--implications for management.

    Science.gov (United States)

    Ome, Maria; Wangnapi, Regina; Hamura, Nancy; Umbers, Alexandra J; Siba, Peter; Laman, Moses; Bolnga, John; Rogerson, Sheryle; Unger, Holger W

    2013-05-07

    Prune belly syndrome is a rare congenital malformation of unknown aetiology and is characterised by abnormalities of the urinary tract, a deficiency of abdominal musculature and bilateral cryptorchidism in males. We report a case of prune belly syndrome from Papua New Guinea, which was suspected on pregnancy ultrasound scan and confirmed upon delivery. A 26-year-old married woman, Gravida 3 Para 2, presented to antenatal clinic in Madang, Papua New Guinea, at 21(+5) weeks' gestation by dates. She was well with no past medical or family history of note. She gave consent to participate in a clinical trial on prevention of malaria in pregnancy and underwent repeated ultrasound examinations which revealed a live fetus with persistent megacystis and anhydramnios. Both mother and clinicians agreed on conservative management of the congenital abnormality. The mother spontaneously delivered a male fetus weighing 2010 grams at 34 weeks' gestation with grossly abnormal genitalia including cryptorchidism, penile aplasia and an absent urethral meatus, absent abdominal muscles and hypoplastic lungs. The infant passed away two hours after delivery. This report discusses the implications of prenatal detection of severe congenital abnormalities in PNG. This first, formally reported, case of prune belly syndrome from a resource-limited setting in the Oceania region highlights the importance of identifying and documenting congenital abnormalities. Women undergoing antenatal ultrasound examinations must be carefully counseled on the purpose and the limitations of the scan. The increasing use of obstetric ultrasound in PNG will inevitably result in a rise in prenatal detection of congenital abnormalities. This will need to be met with adequate training, referral mechanisms and better knowledge of women's attitudes and beliefs on birth defects and ultrasound. National medicolegal guidance regarding induced abortion and resuscitation of a fetus with severe congenital abnormalities may

  10. Prenatal ultrasound diagnosis and outcome of placenta previa accreta after cesarean delivery: a systematic review and meta-analysis.

    Science.gov (United States)

    Jauniaux, Eric; Bhide, Amar

    2017-07-01

    Women with a history of previous cesarean delivery, presenting with a placenta previa, have become the largest group with the highest risk for placenta previa accreta. The objective of the study was to evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with 1 or more prior cesarean deliveries. We searched PubMed, Google Scholar, clinicalTrials.gov, and MEDLINE for studies published between 1982 and November 2016. Criteria for the study were cohort studies that provided data on previous mode of delivery, placenta previa, or low-lying placenta on prenatal ultrasound imaging and pregnancy outcome. The initial search identified 171 records, of which 5 retrospective and 9 prospective cohort studies were eligible for inclusion in the quantitative analysis. The studies were scored on methodological quality using the Quality Assessment of Diagnostic Accuracy Studies tool. The 14 cohort studies included 3889 pregnancies presenting with placenta previa or low-lying placenta and 1 or more prior cesarean deliveries screened for placenta accreta. There were 328 cases of placenta previa accreta (8.4%), of which 298 (90.9%) were diagnosed prenatally by ultrasound. The incidence of placenta previa accreta was 4.1% in women with 1 prior cesarean and 13.3% in women with ≥2 previous cesarean deliveries. The pooled performance of ultrasound for the antenatal detection of placenta previa accreta was higher in prospective than retrospective studies, with a diagnostic odds ratios of 228.5 (95% confidence interval, 67.2-776.9) and 80.8 (95% confidence interval, 13.0-501.4), respectively. Only 2 studies provided detailed data on the relationship between the depth of villous invasion and the number of previous cesarean deliveries, independently of the depth of the villous invasion. A cesarean hysterectomy was performed in

  11. Prenatal diagnosis in multiple pregnancy.

    Science.gov (United States)

    Taylor, M J; Fisk, N M

    2000-08-01

    Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres. Copyright 2000 Harcourt Publishers Ltd.

  12. Hemimegalencephaly: prenatal diagnosis and outcome.

    Science.gov (United States)

    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.

  13. Prenatal diagnosis of 47,XXX.

    Science.gov (United States)

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  14. Prenatal ultrasound diagnosis of fetalbody stalk anomaly%胎儿体蒂异常的产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    毛利萍

    2015-01-01

    目的:探讨产前超声诊断胎儿体蒂异常的价值。方法回顾性分析本院产前超声诊断的7例胎儿体蒂异常超声声像图特点及随访结果。结果7例胎儿均合并有多种畸形,7例均有前腹壁严重缺损及腹腔多个脏器外突、脊柱侧弯、脐带过短;6例伴有肢体缺失或肢体畸形;3例合并单脐动脉;4例于宫腔内见羊膜带;2例伴有骶尾部脊柱裂并相应的颅内改变;1例合并有心脏室间隔缺损。7例胎儿中仅2例合并羊水过少。结论产前超声检查是诊断胎儿体蒂异常的可靠方法,值得在临床推广应用。%Objective: To investigate the prenatal ultrasound diagnosis of fetal body stalk anomaly value. Methods A retrospective analysis of our hospital 7 cases of prenatal ultrasound diagnosis of fetal body stalk anomaly ultrasound sonographic features and follow-up results.Results: 7 cases of fetus were combined with multiple malformations, 7 cases were anterior abdominal wall defect of abdominal multiple viscera and severe external condyle, scoliosis, umbilical cord is too short; 6 cases with limb loss or limb malformations; single umbilical artery of 3 cases with; 4 cases in the intrauterine amniotic bands; 2 cases of intracranial with lumbosacral the tail spinal column fracture and the corresponding change ;there were 1 cases with ventricular septal defect. 7 cases of fetal in only 2 of cases witholigohydramnios.Conclusion: Prenatal ultrasound diagnosis of fetal is a reliable method of body stalk anomaly, it is worth to popularize in the clinical application.

  15. 产前超声在诊断胎儿隐性脊柱裂中的价值%Prenatal ultrasound diagnosis of fetal spina bifida occulta

    Institute of Scientific and Technical Information of China (English)

    许玲; 徐延峰; 鞠志叶; 董发进; 胡冰; 接连利; 吴乃森

    2009-01-01

    目的 探讨隐性脊柱裂的超声表现,提高产前超声对此类畸形的认识.方法 回顾性分析9例产前诊断为胎儿隐性脊柱裂的超声表现,并与放射影像学资料对比,总结其声像图特点.结果 产前超声诊断隐性脊柱裂9例,经尸解、X线摄片或出生后MRI证实,8例诊断正确,另1例为显性脊柱裂.胎儿隐性脊柱裂的超声表现具有特征性,其声像图特点为:①胎儿脊柱正常生理弯曲消失;②病变部位椎骨骨化中心排列异常,椎板缺如,椎管开放;③背部皮肤连续完整,无囊状物交出及胎头形状改变.结论 超声检查是诊断隐性脊柱裂的可靠方法.%Objective To investgate the ultrasound appearance of prenatal spina bifida occulta (SBO) to improve the recognition of this kind of abnormality. Methods A total of 9 cases of SBO which were diagnosticated by prenatal ultrasound were reviewed retrospectively. The results were compared with radiological and pathological results. Results Prenatal ultrasound diagnosed 9 SBO cases, which were confirmed by autopsy, X-ray or MRI (8 SBO cases and 1 spinal bifida manifesta cases). The sonogram features of SBOwere the disaooearance of physiological curvature of spine,abnormal arrangement of intravertebral body in diseased region, the absence of vertebral plate with opening vertebral arch, and the normal skin outline on the back, with out outstanding cyst or the skull Conclusion Prenatal ultrasound is a reliability method in the diagnosis of SBO.

  16. The effectiveness of ultrasound screening in the prenatal diagnosis of fetal malformation%胎儿肢体畸形的产前超声诊断价值

    Institute of Scientific and Technical Information of China (English)

    吕小利; 薛玉; 许建萍; 张歆; 吴新财; 陈宝定

    2015-01-01

    目的:探讨超声筛查诊断胎儿肢体畸形的价值。方法超声筛查8368名孕16~34周的孕妇,运用二维连续顺序追踪超声检测法(SCSA)结合三维超声表面及透明成像模式检查胎儿肢体。结果引产后胎儿肢体畸形22例,产前超声检出21例[9例双足内翻,1例一足外翻,2例四肢短小畸形,1例左小腿缺如,1例双上肢前臂缺如,3例肢体姿势异常,1例双侧桡骨缺失,3例多指(趾)]。其中19例合并其他畸形,1例漏诊及3例部分漏诊。结论二维超声连续顺序追踪检测法结合三维超声表面及透明成像法是产前检出胎儿肢体畸形的有效方法。%Objective To evaluate the effectiveness of ultrasound screening and diagnosis of fetal limb defor-mities. Methods Ultrasound screening of 8 368 cases of pregnancy 16 to 34 weeks pregnant , focus on detection of fetus′limbs by using systematic continuous sequence approach (SCSA) combined with three-dimensional ultrasound. Results After development of fetal limb deformity in 22 cases, prenatal ultrasound detected 21 cases, including 9 cases of varus feet,1 case of valgus foot , 2 cases of short limb deformity, 1 case with left leg absent,1 case of upper forearm absent, 1 cases of pairs of limb posture abnormalities, 3 cases of pairs of limb posture abnormalities, 1 case of Congenital radiu deficiency ,and 3 cases of multiple fingers (toes), with 19 cases complicate with other malformations,1 case of missed diagnosis and missed parts of 3 cases. Conclusion The method of systematic continuous sequence ap-proach (SCSA) in two-dimensional ultrasound combined with three-dimensional ultrasound screening are effective tools for use in prenatal identification ofetal limb deformities.

  17. 血管前置的产前超声筛查与诊断%Prenatal ultrasound screening and diagnosis of vasa previa

    Institute of Scientific and Technical Information of China (English)

    李胜利; 陈秀兰; 文华轩

    2011-01-01

    血管前置是导致围产儿死亡的一个危险因素,经阴道分娩围产儿死亡率高.超声检查是产前诊断血管前置最可靠且简便、易推广的检查方法.当产前超声检查发现低置胎盘、双叶胎盘、副胎盘、多叶胎盘、多胎妊娠、帆状胎盘等高危发病因素时,需详细检查宫颈内口,常规的检查方法是经腹超声检查,当因胎先露阻挡等原因显示宫颈内口不满意时,需结合经会阴超声检查或经阴道超声检查;经阴道超声检查是该3种检查方法中最可靠的显示方法,但合并阴道活动性出血或宫颈机能不全时不宜使用.对于产前诊断血管前置的病例,建议于临产前行选择性剖宫产术.%Vasa previa is a dangerous factor which may result in fetal demise. Vaginal delivery may lead to high fetal mortality. Ultrasound is the most reliable, simple and generalized way for diagnosis of prenatal vasa previa. If the following high risk factors are detected by prenatal ultrasound, such as low lying placenta, bi-lobed placenta, succenturiate lobe, multi-lobed placenta, multiple pregnancy and velamentous insertion of the cord, the internal cervical os is necassary for examination. Transabdominal ultrasound is the routine way to observe the internal cervical os. But if internal cervical os is not satisfied to observe internal cervical os because of fetal presentation,transperineal or transvaginal ultrasound is recommended. Transvaginal ultrasound is the most reliable way. However, it is not recommended to perform once the mother is complicated with active bleeding or cervical incompetence. Elective caesarean section should be offered prior to the onset of labour for cases that have been diagnosed of prenatal vasa previa.

  18. Prenatal magnetic resonance imaging as a useful adjunctive to ultrasound-enhanced diagnosis in case of a giant foetal tumour of the neck.

    Science.gov (United States)

    Mittermayer, C; Brugger, P C; Lee, A; Horcher, E; Hayde, M; Bernaschek, G; Prayer, D

    2005-02-01

    Large cervical masses in the prenatal period are rare and can cause life threatening situations after birth. All available diagnostic techniques should therefore be used to determine the best mode of delivery in the case of such malformation. A large cervical mass was detected by ultrasound in a 41-year-old women, gravida 4, para 3, at 29 + 5 weeks of gestation. US imaging was most consistent with the diagnosis of a large cervical teratoma, but it was not possible to sufficiently evaluate the cervical anatomy of the oropharynx and trachea. An MRI scan demonstrated a distorted oropharynx and a trachea displaced to the right and posteriorly, but not detectable from the middle of the neck up to the larynx. Based on these facts, an EXIT procedure was planned and performed at 30 + 5 weeks of gestation. Foetal MRI provided valuable anatomical information for all specialists deciding on the indication and the pre-therapeutic planning of the EXIT procedure.

  19. Prenatal Diagnosis, Fetal Surgery, Recurrence Risk and Differential Diagnosis of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Prenatal screening with α-fetoprotein (AFP and ultrasonography have allowed the prenatal diagnosis of neural tube defects (NTDs in current obstetric care, and open spina bifida has been considered a potential candidate for in utero treatment in modern pediatric surgery. This article provides an overview of maternal serum AFP screening, amniotic fluid AFP assays, amniotic fluid acetylcholinesterase immunoassays and level II ultrasound for NTDs, prenatal repair of fetal myelomeningocele, recurrence risk of NTDs, and differential diagnosis of NTDs on prenatal ultrasound.

  20. 胎盘植入产前超声诊断的临床应用价值%Clinical Value of Prenatal Ultrasound Diagnosis of Placenta Implantation

    Institute of Scientific and Technical Information of China (English)

    欧阳一兵; 郭晓燕; 温穗文; 余桂云

    2014-01-01

    目的:探讨产前超声诊断在胎盘植入的临床应用价值。方法回顾性分析34例经由临床及病理学证实为胎盘植入的孕妇相关资料,分析其多普勒超声检查的声像学特征,及胎盘植入与产后出血及胎盘的关系。结果经由产前超声诊断提示共11例确诊,占比32.4%,出现漏诊23例,占比67.6%;经产前超声诊断提示胎盘植入的11例患者的影像学特征主要有:胎盘后间隙部分或者全部消失,胎盘有内漩涡流形成,胎盘附着处的子宫肌层菲薄及胎盘异常性增厚等,产后大出血与非产后大出血的胎盘植入发生率为(56.3%vs11.1%),胎盘前置与非胎盘前置的胎盘植入发生率为(71.4%vs 5.0%),前壁胎盘与非前壁胎盘的发生率为(53.3%vs15.8%),P<0.05。结论经超声检查对胎盘植入进行产前的诊断,对预防产后出血、保障母婴平安有着重要的价值。%Objective To explore the clinical value of prenatal ultrasound diagnosis of placenta implantation .Methods Doing retrospective analysis of 34 cases with placenta implantation confirmed by clinical and pathological pregnant relevant information, analyzing features of Doppler ultrasonographic and relationship of postpartum hemorrhage with placenta implantation placenta .Results Among 34 cases, 11 cases were diagnosed as placenta implantation by prenatal ultrasound , accounting for 32.4%.23 cases were missed , accounting for 66.7%.The main imaging characteristics were as follows:some or all of clearance of behind placenta disappeared , there was vortex flow in the placenta formation ,and there was myometrium meager attachment of the placenta and placental abnormalities thickening in the 11 pla-centa implantation of 34 cases patients diagnosed by prenatal ultrasound.Incidence of placenta accreta in postpartum hemorrhage patients and non-postpartum hemorrhage patients was 56.3%vs11.1%,incidence of placenta accreta

  1. 产前超声诊断胎儿出生缺陷的临床分析%The Clinical Study on the Diagnosis of Fetal Birth Defect by Prenatal Ultrasound Examination

    Institute of Scientific and Technical Information of China (English)

    马澜竹

    2015-01-01

    目的:探究产前超声诊断对胎儿出生缺陷的临床分析。方法选取2012年4月~2013年12月在我院就诊的627例孕妇进行产前的超声诊断,观察超声检查的图像。结果产前超声诊断的符合率为95.12%,漏诊率为4.9%,符合率较高,准确率高,有统计学意义(P<0.05)。结论产前的超声诊断能够准确检查出胎儿的出生缺陷问题,提高优生优育,为胎儿出生缺陷干预重要有效的方法。%Objective Clinical study on the diagnosis of fetal birth defect by prenatal ultrasound examination is to be investigated. Methods Chose 627 pregnant women who were received and treated in hospital from April 2012 to December 2013 and get them tested by prenatal ultrasound examination. And then make an observation on ultrasound image. Results The accuracy of prenatal ultrasound examination was up to 95.12%,and misdiagnosis probability was 4.9%; the prenatal diagnosis was of high accuracy and its outcome had statistic value(P<0.05). Conclusion Prenatal ultrasound examination is of high accuracy in diagnosis of fetal birth defect which is beneficial to improve sound birth and superior nurture; it is a quite effective way to prevent from fetal birth defect.

  2. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  3. Teaching prenatal ultrasound to family medicine residents.

    Science.gov (United States)

    Dresang, Lee T; Rodney, William MacMillan; Dees, Jason

    2004-02-01

    Prenatal ultrasound is a powerful diagnostic tool, but there has been little research on how to teach ultrasound to family physicians. The available evidence supports teaching through didactics followed by supervised scanning. Didactic topics include physics and machine usage, indications, fetal biometry, anatomic survey, practice management, ethical issues, and resources. Supervised scanning reinforces the didactic components of training. A "hand-on-hand" supervised scanning technique is recommended for the transmission of psychomotor skills in these sessions. Curricula for teaching ultrasound should include information on which residents will be taught prenatal ultrasound, who will teach them, how to create time for learning ultrasound skills, and how to test for competency. The literature suggests that competency can be achieved within 25-50 supervised scans. Measures of competency include examination and qualitative analysis of scanning. Competency-based testing needs further development because no uniform standards have been established.

  4. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with tr

  5. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.

    NARCIS (Netherlands)

    Ettema, A.M.; Wenghoefer, M.; Hansmann, M.; Carels, C.E.L.; Borstlap, W.A.; Berge, S.J.

    2010-01-01

    OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with tr

  6. PRENATAL DIAGNOSIS IN ORGANIC ACIDEMIA

    Directory of Open Access Journals (Sweden)

    Hedieh SANEIFARD

    2012-03-01

    Full Text Available Organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.Because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.Three approaches to prenatal diagnosis may be possible, including measurement of analytes in amniotic fluid or use of cells obtained by Choronic Villus sampling (CVS or amniocentesis to either assay enzyme activity or extract DNA for molecular genetic testing.Biochemical genetic testing: Prenatal diagnosis for pregnancies at increased risk for propionic acidemia, methylmalonic acidemia, biotin-unresponsive3-methylcrotonyl-CoA carboxylase deficiency, glutaric acidemia type 1, ketothiolase deficiency, methylmalonic aciduria and homocystinuria, cblC type, and isovaleric acidemia is possible by analysis of amniotic fluid if highly accurate quantitative methods are used to measure the appropriate analytes. Amniocentesis is usually performed at approximately 15 to 18 weeks gestation.Prenatal diagnosis for pregnancies at increased risk for MSUD is possible by measurement of enzyme activity in fetal cells obtained by chorionic villous sampling(CVS at approximately ten to 12 weeks gestation or amniocentesis usually performed at approximately 15 to 18 weeks gestation.(If cells from CVS are used, extreme care must be taken to assure that they are fetal rather than maternal cells.Molecular genetic testing:Prenatal diagnosis for pregnancies at increased risk for all disorders is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks of gestation or chorionic villous sampling (CVS at approximately ten to 12 weeks of gestation. Both disease-causing allels of an affected family member must be identified before prenatal testing.Preimplantation genetic diagnosis (PGD

  7. Investigation on prenatal ultrasound diagnosis of fetal agenesis of septum pellucidum cavity%胎儿透明隔腔缺如的产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    符燕鸣

    2015-01-01

    Objective To study the prenatal ultrasound diagnosis of fetus isolation chamber is absent . Methods Our hospital from October 2012 to October 2014 pregnant women for prenatal ultrasonic examination system between 8650 cases, including 8 cases of symptoms, the isolation chamber was absent for key observe cerebral ultrasound , ultrasonic characteristics and analyze its related abnormalities .Results All the 8 cases of fetal prenatal brain two-dimensional ultrasonic are transparent insulation cavity , its deficiency such as fetal related deformities has the following kinds: 1 ) the subcallosal sacral defect in 1 case, for lack of completeness; 2 ) holoprosencephaly in 2 cases, including leaves in 1 case, half leaf type 1 case;3) split brain malformation in 1 case;4) hole brain in 1 case; 5) type water anencephaly in 1 case; 6) severe hydrocephalus in 2 cases, including 1 case caused by midbrain aqueduct stenosis , 1 case caused by open spina bifida .Conclusions Cavity of septum pellucidum can be used as a middle and late ultrasonic observation important index of the fetal central nervous system development , if the isolation chamber is absent tend to cause various brain malformation fetus , such as frontal lesions and midline structure dysplasia .In double top diameter plane make prenatal ultrasound can observe transparent insulation cavity , it can be as an important observation methods have transparent insulation cavity.%目的:研究胎儿透明隔腔缺如的产前超声诊断。方法选取我院自2012年10月至2014年10月间进行产前系统超声检查的孕妇8650例,其中有8例透明隔腔缺如症状,对其进行颅脑超声重点观察,并且分析其相关畸形超声特征。结果所有8例胎儿的产前颅脑二维超声均未显示透明隔腔,其缺如胎儿的相关畸形有以下几种:(1)胼骶体缺失1例,为完全性缺失;(2)前脑无裂畸形2例,其中包括无叶型1例,半叶型1例;(3)脑裂畸形1

  8. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  9. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  10. 产前超声诊断全前脑畸形的价值%The value of prenatal ultrasound diagnosis of holoprosencephaly.

    Institute of Scientific and Technical Information of China (English)

    胡翔

    2015-01-01

    Objective:To analyze the application value of prenatal ultrasonography in diagnosis of fetal holoprosencephaly. Methods:From 2009 May to 2014 year in August in our hospital for prenatal ultrasound diagnosis for clinical data of 20 cases of pregnant women of fetal holoprosencephaly. Were analyzed retrospectively, observation of fetal intracranial structure, ring structure and blood flow of the brain artery of Willis, the facial organs and other organs combined anomalies. Results:In 20 cases of fetal holoprosencephaly, 12 cases with alobar holoprosencephaly, 7 cases with semilobar holoprosencephaly, and were associated with facial deformities, mainly manifested as cyclopia, eyes from too close, single nostril nose deformity or trunk, trunk deformity, malformed and central type of cleft lip and palate at the same time; 2 cases with both hands and feet shaft multi finger (toe) malformation, 2 cases combined with omphalocele. 1 cases of phyllodes holoprosencephaly, not complicated with facial deformities and other organs. CDFI display part of the forebrain of fetal cerebral arterial circle of Willis perfusion abnormal or there is a reverse flow phenomenon, the lack of integrity of the structure. Conclusion:Prenatal ultrasound is a non invasive, sensitive in detecting fetal holoprosencephaly and malformation, and of holoprosencephaly type, is of great significance to guide the prenatal counseling and clinical treatment.%目的:分析产前超声在胎儿全前脑畸形诊断中的应用价值.方法:选择2009年5月至2014年8月在我院接受产前超声检查被诊断为胎儿全前脑畸形的20例孕妇的临床资料进行回顾性分析,观察胎儿颅内结构、大脑Willis动脉环结构及血流情况、颜面部器官以及其他器官合并畸形情况.结果:在20例全前脑畸形胎儿中,12例为无叶全前脑、7例为半叶全前脑,且均伴有颜面部畸形,主要表现为独眼畸形、眼距过近、单鼻孔、无鼻孔长鼻畸形或象鼻畸

  11. 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.

  12. 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

    diagnosis and highlighting the importance of the fetal ultrasound in the identification of fetus with this dysplasia. CASE DESCRIPTION: The patient is the second son of young parents without family history of genetic diseases. The fetal ultrasound performed with 35 weeks of gestation showed polyhydramnios, prominent forehead and disproportion between skull and trunk, with thoracic hypoplasia and shortening of long bones, suggestive of thanatophoric dysplasia. At birth, the child was small and presented: hypotonia, macrocephaly, large fontanel, middle face hypoplasia, bulging eyes, nevus flammeus in the nose and eyelids, low nasal bridge, micrognathia, short neck and thorax, and an important shortening of arms, forearms, thighs and legs. Radiographic evaluation showed a great transverse diameter of the skull, thorax with short ribs and diminished vertebral bodies, shortening and deformity of the long bones of upper and lower limbs (with curved femora and hypoplasia of the pelvis. These features confirmed the prenatal diagnosis of thanatophoric dysplasia. The patient died few days after birth due to respiratory insufficiency. COMMENTS: Fetal ultrasound is a non-invasive method capable of diagnosing several bone dysplasias, including the thanatophoric one. The intrauterine diagnosis allows the differential diagnosis of the condition as well as the genetic counseling for the family.

  13. Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

    Science.gov (United States)

    Victorine, Anna S; Weida, Jennifer; Hines, Karrie A; Robinson, Barrett; Torres-Martinez, Wilfredo; Weaver, David D

    2014-03-01

    Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

  14. Pallister-Killian syndrome: difficulties of prenatal diagnosis.

    Science.gov (United States)

    Doray, Bérénice; Girard-Lemaire, Françoise; Gasser, Bernard; Baldauf, Jean-Jacques; De Geeter, Bernard; Spizzo, Michèle; Zeidan, Charles; Flori, Elisabeth

    2002-06-01

    The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

  15. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Application of early prenatal systemic ultrasound screening in diagnosis of fetal deformity%早孕期超声筛查在胎儿结构畸形诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    霍晓恺; 刘泰石; 解耀锃

    2016-01-01

    Objective To explore the clinical value of early prenatal systemic ultrasound screening in diagnosis of fetal deformity.Methods Sixty-four pregnant women who accepted prenatal ultrasound examination during 11 to 13 +6 gestational weeks in the Second People ’ s Hospital of Liaocheng City from May 2013 to May 2015 were selected to do the early prenatal ultrasound screening.Medium-term prenatal ultrasound was done among the cases of 22 -24 +6 weeks of pregnancy (continuous scan method), and the final results were tracked. Results The fetus deformity detection rates of early prenatal ultrasound screening and medium-term prenatal ultrasound in both groups were not obviously different (χ2 =1.03,P>1.03).Compared to the detection rates of single early prenatal ultrasound screening or single medium-term prenatal ultrasound, the deformity rate in the joint early prenatal ultrasound and medium-term prenatal ultrasound showed significant difference (χ2 =4.53,P<0.05; χ2 =5.39, P<0.05).There were 36 types of fetal structural deformity detected in early prenatal ultrasound.The top three were as follows: cervical cystic carcinoma and NT thickening ( 33.33%) , facial abnormality (25.00%), and anterior abdominal wall abnormality (11.11%).There were 42 types of fetal structural deformity detected in medium-term prenatal ultrasound.The top three were as follows: cardiovascular abnormalities (30.95%), facial abnormalities (21.43%), and central nervous system abnormalities (11.11%).In the results of systemic ultrasound screening in early and medium-term pregnancy, the distribution rates of all kinds of structural deformity were significantly different (χ2 value ranged 4.55 to 6.32, all P<0.05).Conclusion The detection rate of fetal structural deformity is higher in early prenatal systemic ultrasound screening which, however, cannot completely replace the medium-term ultrasound.The joint examination of early and medium-term prenatal ultrasound is suggested to improve the detection

  17. Prenatal diagnosis of interruption of the inferior vena cava by ultrasound%下腔静脉离断产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    姚远; 李胜利; 陈秀兰; 文华轩; 廖玉媚; 肖志莲

    2012-01-01

    目的 探讨胎儿下腔静脉离断产前超声声像图特征和有效诊断切面,以提高其产前超声诊断准确率.方法 回顾性分析我院2006年1月至2010年5月诊断的10例下腔静脉离断胎儿(其中7例经引产后尸体解剖证实)产前超声声像图,与正常超声声像图对比,总结其产前超声声像图特征及有效切面.结果 10例下腔静脉离断胎儿,9例合并严重心内结构畸形,7例合并心外结构畸形(其中5例合并内脏反位).本组10例下腔静脉离断胎儿产前超声声像图均表现为四腔心切面异常(奇静脉扩张)、上腹部横切面异常(正常下腔静脉不能显示)、胸腹部斜冠状切面异常[离断的下腔静脉异位连接于奇(半奇)静脉并穿过膈肌连于腔静脉]及右心房纵切面异常(肝上段下腔静脉入右心房,肾上段肝段间的下腔静脉缺失并离断).结论 下腔静脉离断常合并心内、外结构畸形.下腔静脉离断胎儿在四腔心切面、上腹部横切面、胸腹部斜冠状切面及右心房纵切面上均有特征性超声声像图表现.识别下腔静脉离断特征性超声声像图表现可明显提高其产前超声检出率和诊断准确率.%Objective To investigate ultrasound characteristics and effective diagnosis views of interruption of the inferior vena cava. Methods Between January 2006 and May 2010, 10 fetuses were diagnosed as interruption of the inferior vena cava by ultrasound in our hospital. Seven cases of them were confirmed by autopsy. Their ultrasound images were retrospectively reviewed and compared with normal ones. Results Among the ten fetuses, 9 were complicated with severe cardiac malformations and 7 were complicated with outside cardiac malformations ( including 5 with situ inverse ). For all the 10 cases, dilated venae azygos could be found in four-chamber view, normal inferior vena cava could not be found in the upper abdominal view, inferior vena cava connected with venae azygos or

  18. 产前超声诊断胎儿主动脉闭锁%Prenatal ultrasound diagnosis of fetal aortic atresia

    Institute of Scientific and Technical Information of China (English)

    许燕; 何敬海; 接连利; 程建; 高翔; 刘清华

    2012-01-01

    目的 探讨产前超声诊断胎儿主动脉闭锁的临床价值.方法 回顾性分析9例经引产后尸检证实的主动脉闭锁胎儿的产前超声心动图表现,总结其声像图特征.结果 9例主动脉闭锁胎儿声像图显示升主动脉及主动脉弓细窄7例,升主动脉及主动脉弓显示不清2例,彩色多普勒血流显像9例胎儿均显示主动脉与左心室无血流连接,主动脉弓显示反向血流.9例胎儿中6例伴发左心发育不良,2例伴发室间隔缺损,左心室发育良好,1例伴发完全型房室间隔缺损.9例胎儿检出时平均孕龄(26.0±2.6)周,孕龄最小者仅为孕16周.结论 产前超声诊断胎儿主动脉闭锁具有重要临床价值;升主动脉、主动脉弓细窄或显示不清,主动脉与左心室无血流连接及主动脉弓内反向血流是主要诊断依据;彩色多普勒血流显像有助于早期诊断.%Objective To investigate the clinical value of prenatal ultrasonography in diagnosing fetal aortic atresia.Methods Ultrasound images of 9 cases with fetal aortic atresia confirmed by autopsy were retrospectively analysed and summarized.Results Fetal echocardiography showed ascending aorta and aortic arch were thin in seven cases and unclear in two cases.Color Doppler flow imaging showed fetal aorta no blood connection with left ventricle and reverse blood flow in aortic arch among all 9 cases.There were 6 cases associated with hypoplastic left heart syndrome,two cases associated with ventricular septal defect and well-developed left ventricle,one case complicated with complete atrioventricular septal defect.Nine cases were detected at average gestational age (26.0 ± 2.6) weeks,minimum gestational age was only 16 weeks pregnant.Conclusions Prenatal ultrasound diagnosis of fetal aortic atresia has important clinical value.Ascending aorta and aortic arch are thin or unclear,no blood flow connection between fetal aorta and left ventricle and reverse blood flow in aortic arch are

  19. 胎儿肢体畸形的产前超声诊断分析%Prenatal ultrasound diagnosis and analysis of fetal limb deformities

    Institute of Scientific and Technical Information of China (English)

    张晓慧; 肖利军; 邓旦; 梁燕; 廖明松; 罗丹

    2014-01-01

    目的:探讨胎儿肢体畸形超声声像图特征及方法学特点。方法回顾性分析2010年5月至2012年5月在成都军区总医院接受系统性超声检查的6336例孕妇,使用连续顺序追踪超声法(SCSA )检测胎儿上下肢长骨,观察手足时加用弧形扫查法,动态观察胎儿肢体的形态、结构、姿势及运动等情况。系统检查完成后对可疑或畸形部位进行三维成像作为补充,对胎儿肢体畸形的产前超声诊断结果进行分析。结果6336例孕妇经引产或出生后证实的胎儿肢体畸形20例,产前超声检出18例,分别为四肢短小畸形5例,致死性侏儒3例,海豹肢畸形1例,双侧桡骨缺失1例,一侧手缺失1例,双下肢小腿缺失1例,多指(趾)2例,足内翻3例,重叠指1例;2例漏诊分别为多指及重叠指。结论末端指趾数目及手足姿势异常易漏诊,是检查的难点和重点。%Objective To explore the ultrasonographic characteristics and methodology characteristics of fetal limb deformities . Methods A retrospective analysis was made on 6 336 pregnant women accepting systematic prenatal ultrasonography during the period of May 2010 to May 2012 in the General Hospital of Chengdu Military Region .The long bones of the upper and lower limbs were scanned by using the systematic continuous sequence approach (SCSA) and by adding the arc rotaryprocess for observing the hands and feet ,fetal limbs morphology ,structure ,posture and movement ,etc .were dynamically observed .The suspected position or fetal limb deformities were examined with three-dimensional(3D) ultrasonography as the supplementary .The prenatal ultrasound examination results of fetal limb deformities were analyzed .Results Among 6 336 pregnant women ,20 cases of fetal limb deformi-ties were confirmed by induced labor or after birth ,18 cases were diagnosed by the prenatal ultrsound ,including 5 cases of short limbs deformity ,3 cases of fatal

  20. Interobserver agreement in detailed prenatal diagnosis of congenital heart disease by telemedicine using four-dimensional ultrasound with spatiotemporal image correlation

    NARCIS (Netherlands)

    Adriaanse, B.M.; Tromp, C.H.; Simpson, J.M.; Mieghem, T. van; Kist, W.J.; Kuik, D.J.; Oepkes, D.; Vugt, J.M. van; Haak, M.C.

    2012-01-01

    OBJECTIVE: To evaluate the clinical accuracy of four-dimensional (4D) echocardiography in the detailed prenatal diagnosis of congenital heart disease (CHD) in a telemedicine setting. METHODS: Ten second-trimester spatiotemporal image correlation (STIC) volumes were sent to three observers in differe

  1. Pai syndrome: challenging prenatal diagnosis and management

    Energy Technology Data Exchange (ETDEWEB)

    Blouet, Marie [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); University of Lower Normandie, Caen (France); Belloy, Frederique [Centre Hospitalier Universitaire de Caen, Department of Radiology, Caen (France); Jeanne-Pasquier, Corinne [Centre Hospitalier Universitaire de Caen, Department of Pathology, Caen (France); Leporrier, Nathalie [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire de Caen, Department of Genetics, Caen (France); Benoist, Guillaume [University of Lower Normandie, Caen (France); Centre Hospitalier Universitaire, Pole Femmes-Enfants, Department of Obstetrics and Gynecology, Caen (France)

    2014-09-15

    Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome. (orig.)

  2. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    Science.gov (United States)

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  3. Prenatal ultrasound in diagnosis of fetal pulmornary sequestration malformations%胎儿隔离肺畸形的产前超声诊断探讨

    Institute of Scientific and Technical Information of China (English)

    李伟霞; 周宇

    2012-01-01

    Objective To explore the diagnostic value and clinical significance of ultrasonography in the fetal pulmonary sequestration (PS). Methods Fetus in late pregnancy was the line of systematic ultrasonography screening for fe-talmalformation. Routinely bilateral lung echo was observed with or without abnormal lesions and lesion characteristics, andlesions with CDFI showed internal blood supply and blood flow. Results There were 14 fetus with PS whose ultrasonography was in conformity with the pathology or imagingstudies. the coincidence rate was 82.4% (14/17), There were: 3 cases who belonged to missed diaghosisCtwo cases aspulmonary cystadenoma,one case as diaphragmatic hernia). The fetal PS is characterized'by a typical ultrasoundimage of chest or abdominal fetal echogenic mass or slightly stronger echo,triangular or leaf, the internal echouniform, border clearance, and solid strong echo from circulation artery or branch. Conclusion Prenatal ultrasound is amore accurate and reliable method in diagnosis of fetal PS, has important clinical value.%目的 探讨产前超声检查对胎儿隔离肺的诊断价值及临床意义.方法 对孕中晚期胎儿行系统性畸形筛查,常规观察双侧肺部回声,有无异常病灶及病灶特征,并用CDFI显示病灶血供来源及内部血流情况,并追踪随访产后病检结果.结果 产前诊断的17例隔离肺,经产后病理或影像学检查证实为隔离肺14例胎儿,超声诊断准确率82.4%;误诊3例(2例为肺囊腺瘤,1例隔疝).其典型声像图特征:胎儿胸腔内或腹腔内强回声或稍强回声团块、呈三角形或叶状,内部回声均匀、边界清,供血动脉来自体循环动脉或其分支.结论 产前超声检查是诊断胎儿隔离肺畸形的较准确、可靠的方法,具有重要的临床价值.

  4. The Value of Down Syndrome Screening Combined with Four Dimensional Colour Doppler Ultrasound in Prenatal Diagnosis%唐氏筛查联合四维彩超在产前诊断中的价值

    Institute of Scientific and Technical Information of China (English)

    邓玲; 汤辉; 黎兴盛; 郭平

    2015-01-01

    Objective:To explore the application value of Down syndrome screening combined with four dimensional colour doppler ultrasound in prenatal diagnosis.Method:From January 2011 to December 2014, 2578 cases of pregnant women for 14 to 24 weeks were selected in maternity clinics in our hospital,they were examined by Down syndrome screening and four dimensional colour doppler ultrasound.Result:2578 cases of pregnant women were all examined by Down syndrome screening and four dimensional colour doppler ultrasound. Positive rate of Down syndrome screening was 4.84%,positive rate of was four dimensional colour doppler ultrasound was 0.96%,positive rate of combined examination was 5.81%, positive rate between Down syndrome screening and combined examination had no statistical significance (P>0.05),positive rate between four dimensional colour doppler ultrasound and combined examination had statistical significance(P0.05),与四维彩超筛查比较差异有统计学意义(P<0.05).结论:唐氏筛查联合四维彩超在产前筛查中的意义重大,可提高唐氏儿和其他染色体病儿及各种畸形的诊断率,及时做出判断是否终止妊娠,为家庭和社会减轻了沉重的负担.

  5. 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.

  6. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  7. The value of prenatal ultrasound diagnosis of fetal edema%产前超声诊断胎儿水肿的价值

    Institute of Scientific and Technical Information of China (English)

    董慧琴; 王晓炜; 吴争勇

    2015-01-01

    目的:探讨胎儿水肿的病因及超声声像图特征,提高对胎儿水肿的认识.方法:回顾我院2009年1月至2013年1月间行产前超声检查的32047例孕妇,共检出27例胎儿水肿,结合病因及超声声像图特征作相关分析.结果:孕10-13+6周胎儿水肿3例,孕14-27+6周胎儿水肿17例,孕28-38周胎儿水肿7例.超声图像的主要特征为胎儿皮肤水肿,颈部淋巴水囊瘤,腹围/头围比值增大,胸腔积液,腹腔积液,心包积液,心动过缓,心动过速,羊水过多,羊水过少,脐动脉S/D增高等.母婴血型不合1例,宫内感染1例.24例行染色体检查,结果为Turner综合征9例,21-三体7例,染色体正常8例. 1例病因不明.结论:超声对胎儿水肿诊断准确,为妊娠期筛查提供重要依据.%Objective:To investigate the etiology of fetal hydrops and ultrasonogr aphic features, to improve the understanding of fetal hydrops.Methods:A review of 32047 cases of pregnant women in our hospital from 2009 January to 2013 January in the prenatal ultrasound examination, there were 27 cases of fetal hydrops, combined with the cause and the sonographic features of correlation analysis.Results:In 3 cases of pregnancy 10-13+6 weeks of fetal hydrops fetal edema, 17 cases with 14-27+6 weeks, 28-38 gestational weeks of fetal edema in 7 cases. The main characteristics of ultrasound images of the fetal skin edema, cervical lymphatic hygroma, abdominal circumference / head circumference ratio increases, ascites, pleural effusion, pericardial effusion, slow heartbeat, heartbeat tachycardia, polyhydramnios, oligohydramnios, umbilical artery S/D higher etc. Maternal fetal blood group incompatibility in 1 cases, 1 cases of intrauterine infection. 24 routine chromosome examination, the results for 9 cases of Turner syndrome, trisomy of chromosome 21- in 7 cases, normal in 8 cases. 1 cases of unknown etiology.Conclusion:ultrasonography in the diagnosis of fetal hydrops is accurate,provide an important basis

  8. 产前超声检查在胎盘植入诊断中的临床价值%The Clinical Value of Prenatal Ultrasound in the Diagnosis of Placenta Increta

    Institute of Scientific and Technical Information of China (English)

    王薇薇

    2015-01-01

    目的:分析胎盘植入的超声影像特点,探讨产前超声检查对胎盘植入的诊断价值。方法选择我院在2011年12月~2014年8月收治的51例胎盘植入患者作为研究对象,回顾性分析产前超声检查的检出情况,并总结超声图像特点。结果产前超声检查检出率为37.25%,检出患者的超声图像特点为胎盘内漩涡形成、未见胎盘后间隙消失、子宫肌层局部菲薄以及胎盘异常增厚。结论产前超声检查有利于胎盘植入的早期诊断,结合超声声像图特征,对胎盘植入的产前诊断具有重要意义。%Objective To analyze the characteristics of ultrasonography for placenta increta, explore the value of prenatal ultrasonography in diagnosis of placenta increta. Methods From December 2011 to August 2014, 51 cases with placenta increta in my hospital were selected as the research object, the ultrasonic image data were analyzed retrospectively, and summarized the characteristics of ultrasound image. Results The rate of prenatal ultrasound detection for placenta increta was 37.25%;The ultrasonic image characteristics for placenta increta was the vortex formation in the placenta, no disappearing placental post-clearance, local thinning muscular layer of uterin, and abnormal thickening placenta. Conclusion Prenatal ultrasound is beneficial to early diagnosis of placenta increta, and ultrasonographic features has important signiifcance in prenatal diagnosis of placenta increta.

  9. APPLICATION OF FIRST-MIDTRIMESTER PREGNANCY ULTRASOUND COMBINED WITH INVASIVE PRENATAL DIAGNOSIS IN TWIN PREGNANCY%早中孕期超声联合有创性产前诊断在双胎妊娠中的应用

    Institute of Scientific and Technical Information of China (English)

    胡矩锋; 李炳星; 高丽丽

    2015-01-01

    效降低出生缺陷,在提高人口素质方面有重要的应用价值。%Objective Evaluate application value that ultrasound of first‐midtrimester combined with in‐vasive prenatal diagnosis in linyi city .Methods Research of first‐midtrimester pregnancy ultrasound com‐bined with invasive prenatal diagnosis in twin pregnancy from Octobor 2014 to May 2015 clinic in our hos‐pital during the 11 weeks ago ,statistics of pregnant age ,first trimester ultrasound ,18 to 22 weeks ultra‐sound ,invasive prenatal diagnosis ,prenatal diagnosis ,selective reduction ,etc .summary all the data ,a‐nalysis the application value of first‐midtrimester pregnancy ultrasound combined with invasive prenatal di‐agnosis in twin pregnancy in linyi city .Results Included in the study of a total of 1437 cases of twin preg‐nancy ,anomaly detection ,with pregnancy ultrasound system is 56 cases ,ultrasonic detection of first tri‐mestr abnormalities is 7 cases ,abnormal ultrasonic detection of midtrimester is 49 cases ,invasive prenatal diagnosis to all ultrasonic detection pregnancy ,actually have invasive prenatal diagnosis ,27 cases (48 . 2% ) ,including 3 patients to CVS ,24 cases to amniocentesis .The actual number of prenatal diagnosis of fetal 47 (including twins prenatal diagnosis in 21 cases ,one of the tires to prenatal diagnosis of 5 cases) , diagnosis of five chromosome abnormality ,are one of the twins anomalies (including 1 case no abnormal sonographic findings but prenatal diagnosis) ,including 2 cases of one of twins 21 three body syndrome , chromosome abnormality rate 10 .6% (5/47) .7 cases to selective reduction (5 cases of abnormal chromo‐some abnormality and 2 cases of ultrasonic normal chromosome) ,else choose expectation .Avoided the born of abnormal karyotypes including 2 cases of 47 ,+21 (including ultrasonic no abnormality in 1 case)、2 cases of 47 ,+18 and 1 case of 47 ,+13 ,and 1 case of fetal ascites ,1 cases of tetralogy of fallot

  10. 阴茎阴囊转位产前超声诊断并文献回顾%Prenatal diagnosis of penoscrotal transposition by ultrasound and review of literature

    Institute of Scientific and Technical Information of China (English)

    毕静茹; 王银; 李胜利; 文华轩

    2011-01-01

    Objective To assess the prenatal features of penoscrotal transposition by ultrasound. Methods The prenatal ultrasonogram of two fetuses, which were diagnosed as penoscrotal transposition, was retrospectively reviewed. The prenatal characteristics were summarized by ultrasound, and compared with those of autopsy. Literatures referring to the prenatal diagnosis of such abnormality were reviewed.Results The ' tulip sign ' was characteristic prenatal ultrasound imaging of penoscrotal transposition with a bifid scrotum and hypospadias, which was partially or completely formed by the malpositioned scrotum anterior to the penis and the ventrally bent penis was located between the two scrotal folds. The color Doppler imaging of the micturating fetus may be helpful for display of dystopia of meatus. Conclusion Antenatal ultrasonography is an effective and feasible way to diagnose penoscrotal transposition.Penoscrotal transposition should be differentiated in case of ambiguous genitalia.%目的 探讨阴茎阴囊转位的产前超声声像图特征.方法 总结2例在胎儿系统超声检查中诊断为部分性阴茎阴囊转位胎儿的产前超声声像图表现,与引产后胎儿的生殖器形态特征进行对比,并对阴茎阴囊转位胎儿产前诊断的相关文献进行回顾分析.结果 阴茎阴囊转位胎儿产前超声诊断的声像图典型表现为"郁金香"征,阴茎部分或完全位于阴囊下方,阴茎常表现为短小,合并尿道下裂时可根据胎儿排尿时CDFI检测确定尿道口的位置.结论 产前超声检查是诊断胎儿阴茎阴囊转位有效可行的检测手段.在胎儿性别难以辨认时,应注意识别是否为阴茎阴囊转位畸形.

  11. Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe

    NARCIS (Netherlands)

    Boyd, PA; Wellesley, DG; De Walle, HEK; Tenconi, R; Garcia-Minaur, S; Zandwijken, GRJ; Stoll, C; Clementi, M

    2000-01-01

    Objective-Evaluation of prenatal diagnosis of neural tube defects by ultrasound examination in unselected populations across Europe. Setting-Prenatal ultrasound units in areas that report to contributing congenital malformation registers. Methods-All cases with a suspected or confirmed neural tube d

  12. Prenatal ultrasound and magnetic resonance imaging depiction of a small sublingual ranula.

    Science.gov (United States)

    Tamaru, Shunsuke; Kikuchi, Akihiko; Ono, Kyoko; Kita, Mariko; Horikoshi, Tsuguhiro; Takagi, Kimiyo

    2010-01-01

    Prenatal diagnosis of a congenital ranula has rarely been reported. We describe the case of a small ranula depicted on prenatal sonogram and magnetic resonance imaging, in which we could confirm the intact airway. Although the size of the ranula noted in our fetus was the smallest among the cases reported in the English literature, both of these imaging modalities clearly presented typical diagnostic features present on both ultrasound and magnetic resonance imaging.

  13. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  14. [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

    1. In a review of methods developed for the identification of fetal malformations, the technique, risks and results of amniocentesis are presented. 2. Large series already published have demonstrated the relative simplicity and feasibility of the procedure as well as current indications for its utilization. These include the detection of chromosomal anomalies, the determination of sex (in certain sex-linked disorders), documentation of enzymatic and metabolic deficiencies, and the demonstration of open lesions of the neural tube by appropriate techniques. 3. Experience with over 500 cases personally tested by the authors entirely confirms the major indications for and benefits of this modern method for the detection and prevention of severe congenital anomalies during early pregnancy. 4. The identification of chromosomal alterations is currently the major objective of the method. Increased risks are associated with pregnancies involving a maternal age of 35 years or older (which account for 1-3% of aneuploidies), the birth of a previous infant with free trisomy 21 (1% recurrence risk) or secondary to a parental chromosome translocation (as much as 10% risk of aneuploidy). Fetal karyotyping for determination of sex, in cases where the mother is a carrier of an X-linked recessive gene (on average, 50% of male offspring will be affected), is an inadequate method of diagnosis to be utilized only until alternative techniques render possible specific diagnosis of the anomalies under consideration (hemophilias A and B, muscular dystrophy, etc). 5. Several of these techniques are now nearing development through the advent of fetoscopy and advanced ultrasound methodology, and have already been applied to the detection of certain sex-linked disorders and also for diagnosis of hemoglobinopathies (thalassemias, sickel cell anemia) and other conditions requiring the obtaining of fetal blood for diagnosis. Technology allowing direct examination of fetal parts by means of optical

  15. Clinical value of prenatal ultrasound diagnosis of fetal central nervous system abnormalities%产前超声诊断胎儿神经系统畸形的临床价值

    Institute of Scientific and Technical Information of China (English)

    韩磊; 沈亚梅; 彭建美; 管湘平; 王珍芳; 邹荣莉

    2016-01-01

    Objective To evaluate the clinical value of prenatal routine ultrasound examination in screening of fetal central nervous system abnormalities.Methods Ultrasound imaging features of 27 cases of abnormalities in central nervous system confirmed by autopsy or follow-up were analyzed retrospectively.Results Among these cases, there were 11 cases of spine bifida and meningomyelocele, 3 cases of Dandy-Walker syndrome ( DWS) , 3 cases of cephalocele, 3 cases of hydrocephalus, 1 case of anencephaly, 2 cases of holoprosencephaly, 2 cases of agenesis of corpus callosum, 1 cases of choroid plexus cysts, and 1 case of arachnoid cyst.The accuracy, misdiagnosis rate and missed diagnosis rate of prenatal ultrasound examination was 88.90%, 7.40%and 7.40%, respectively.Conclusion Prenatal ultrasound examination has high diagnostic accuracy for fetal central nervous system malformations, and it has very important clinical value.%目的 探讨产前常规超声检查在胎儿神经系统畸形筛查方面的临床应用价值.方法 对27例经随访及引产证实的中枢神经系统畸形胎儿进行回顾性分析.结果 27例畸形儿中,其中脊柱裂和脊髓脊膜膨出11例,Dandy-Walker畸形3例,脑脊膜膨出3例,脑积水3例,无脑儿1例,全前脑2例,胼胝体发育不全2例,脉络丛囊肿1例,蛛网膜囊肿1例,产前超声诊断准确率为88.90%,误诊率7.40%,漏诊率7.40%.结论 产前超声检查对胎儿中枢神经系统畸形诊断准确率高,具有十分重要的临床应用价值.

  16. Prenatal diagnosis of neonatal hemochromatosis: it is possible?

    Directory of Open Access Journals (Sweden)

    Helena Isabel Lopes

    2015-06-01

    Full Text Available Introduction: Neonatal Hemochromatosis is a rare liver disease of intrauterine onset, defined by neonatal liver failure associated with extrahepatic siderosis. Gestational alloimmune liver disease has been established as the cause of fetal liver injury. At present, there is no effective approach to prenatal diagnosis. Case Report: A 23-year-old pregnant woman presented at 32 weeks of gestation with oligohydramnios and hyperechogenic liver focus on ultrasound. The premature newborn developed multisystem organ failure and died at the second day of life despite aggressive support care. The autopsy allowed the diagnosis of Neonatal Hemochromatosis. Conclusion: The ultrasound identification of hyperechogenic nodular focus on fetal liver may be suggestive of Neonatal Hemochromatosis. Further investigations are needed to identify the specific alloimmune complex in maternal blood. Establishment of the diagnosis in an affected fetus or newborn may have a major impact for the prognosis of disease and for the outcome of future pregnancies.

  17. Prenatal ultrasound diagnosis of lateral ventriculomegaly and abnormalities%产前超声诊断胎儿侧脑室增宽及合并畸形

    Institute of Scientific and Technical Information of China (English)

    袁美贞; 严英榴; 任芸芸; 周毓青; 孙莉

    2011-01-01

    目的 探讨产前超声诊断胎儿侧脑室增宽合并胎儿结构畸形的临床价值.方法 回顾性分析2006年1月一2010年6月来我院检查的27 027名孕妇中超声检出的293胎侧脑室增宽胎儿的超声检查资料.结果 293胎侧脑室增宽胎儿中,未合并胎儿结构畸形232胎(232/293,79.18%);合并胎儿结构畸形61胎(61/293,20.82%),其中最常见的合并畸形为神经系统畸形(42/61,68.85%),其次为心血管系统畸形(21/61,34.43%).结论 产前超声检查发现胎儿侧脑室增宽时,应仔细检查胎儿各系统结构,了解有无合并胎儿结构畸形,尤其是神经系统和心血管系统.对于仪有侧脑室轻度增宽而无明显结构畸形的胎儿·在妊娠后期也应加强随访.%Objective To investigate the value of ultrasound in diagnosing fetal lateral ventriculomegaly (VM) and structural malformations. Methods From Jan 2006 to Jun 2010, 27 027 pregnant women underwent ultrasound, and 293 fetuses with lateral VM were detected. Results Among 293 lateral VM fetuses, lateral VM occurred as an isolated abnormality in 232 fetuses (232/293, 79.18%), combining with other associated structural malformations in 61 fetuses (61/293, 20. 82%), common abnormalities mainly included nerve system anomalies in 42 (42/61, 68. 85%) and cardiovascular system anomalies in 21 (21/61, 34. 43%) fetus. Conclusion Once lateral VM was detected with ultrasound, it is suggested to check fetal structure carefully, especially nerve system and cardiovascular malformation. Moreover, it is necessary to strength prenatal follow-up survey for mild lateral VM fetus without structural malformations.

  18. Prenatal diagnosis of 45,X/46,XX

    Energy Technology Data Exchange (ETDEWEB)

    Hsu, L.Y.F. [New York Univ. School of Medicine, New York, NY (United States)

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  19. 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.

  20. Prenatal ultrasound application in diagnosis and treatment of twin reverse arterial perfusion syndrome%产前超声在双胎反向动脉灌注综合征诊疗中的应用

    Institute of Scientific and Technical Information of China (English)

    谭喜平; 王慧芳; 胡芷洋; 林琪; 冯程

    2009-01-01

    目的 探讨产前超声在双胎反向动脉灌注(TRAP)综合征诊疗中的临床价值.方法 回顾性分析我院产前超声诊断的5例TRAP超声图像、临床资料及妊娠结局,总结TRAP声像学特点.结果 5例TRAP初次确诊孕周为13~28周,均于产后得到证实.彩色多普勒超声检查显示无心畸胎血液循环呈现反向动脉灌注的特点.5例中2例引产;1例流产;1例超声引导下接受无心畸胎减胎术,妊娠至37周分娩;1例在超声密切监测下妊娠至32~(+4)周分娩,新生儿结局良好.结论 产前超声检查对TRAP的早期诊断、预后判断、治疗方案和分娩时机的选择有重要应用价值.%Objective To investigate the value of prenatal ultrasound in diagnosis and treatment of twin reverse arterial perfusion (TRAP) syndrome. Methods A retrospective study was performed in 5 TRAP cases, including ultrasound images, clinical data and pregnancy outcomes. The sonographic characteristics were summarized. Results Five TRAP cases were diagnosed during 13 to 28 weeks' gestation and confirmed after birth. Color Doppler unltrasonography revealed retrograde umbilical artery perfusion towards acardiac twin. Two of 5 cases ended up in induced abortion, 1 in spontaneous abortion, 1 was delivered at 37 weeks' gestation after ultrasound-guided feticide of the acardiac twin and 1 was monitored closely with ultrasound and delivered alive at 32~(+4) weeks' gestation. Conclusion Prenatal ultrasonography has great applicative value for TRAP syndrome in early diagnosis, choosing optimal treatment and prognosis assessment.

  1. 产前三维超声TUI技术对胎儿胼胝体发育不全的诊断价值%Value of Tomographic Ultrasound Imaging in Prenatal Diagnosis of Fetal Agenesis of the Corpus Callosum

    Institute of Scientific and Technical Information of China (English)

    林琪; 范海波; 甘晗靖; 孙枫; 吴瑛

    2013-01-01

    Objective To analyze the graphic features of fetal agenesis of the corpus callosum (ACC) detected by tomographic ultrasound imaging(TUI) and assess the value of TUI in the ACC. Methods 3D volume data of 35 cases of fetus with ACC were analyzed with TUI,the sagittal plane median view of the brain was obtained and the outcome was compared with that of two-dimensional (2D) ultrasound. Results There was difference in the revealing rate of ACC between TUI and 2D ultrasound(P<0. 05). Conclusions TUI is a useful tool in the prenatal diagnosis of ACC.%目的 分析三维断层超声显像技术(tomographic ultrasound imaging,TUI)在胎儿胼胝体发育不全(agenesis of the corpus callosum,ACC)中的图像特征,评价TUI诊断胎儿胼胝体发育不全的价值.方法 应用TUI对34例二维可疑ACC的三维容积数据进行后处理分析,获得显示胼胝体最好的胎头正中矢状切面,并将结果与二维超声结果进行比较.结果 TUI技术对ACC的显示率为97.0% (33/34);二维超声对ACC的显示率为52.9% (18/34),二者的显示率差别有统计意义(P<0.05).结论 三维超声TUI技术在胎儿ACC的产前诊断上具有较高的应用价值.

  2. 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

  3. 产前超声检查在诊断染色体非整倍体异常胎儿中的价值%Application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities

    Institute of Scientific and Technical Information of China (English)

    钟惟娜; 邓学东

    2012-01-01

    目的 探讨产前超声检查在非整倍体异常胎儿诊断中的价值.方法 对2009年9月至2011年12月在我院经羊水细胞染色体核型分析诊断为非整倍体异常的24例胎儿产前超声异常声像图特征进行总结分析.结果 24例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常20例(83.3%,20/24),包括21-三体9例(9/13)、18-三体3例(3/3)、13-三体3例(3/3)、45,X 5例(5/5).其中单发畸形4例(20%,4/20),多发畸形13例(65%,13/20),仅表现为超声软标志异常3例(15%,3/20).18-三体、13-三体及45,X胎儿均有超声可检出的明显结构畸形或异常,21-三体胎儿3例,仅表现为超声软标志异常.24例非整倍体异常胎儿中以心脏畸形检出例数居多(41.7%,10/24),而颈部淋巴水囊瘤是45,X胎儿一个极其重要的超声标志.结论 非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱,超声作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要临床意义.%Objective To investigate the clinical application of prenatal ultrasound in the diagnosis of chromosomal aneuploidy abnormalities . Methods Ultrasound imaging features in 24 aneuploidy abnormal fetuses which were diagnosed by amniocentesis in our hospital from September 2009 to December 2011 were analyzed retrospectively. Results Twenty -four cases of aneuploidy abnormalities dectected by amniocentesis were examined by prenatal ultrasound. Of these cases, twenty were found abnormalities , including 9 with trisomy 21,3 with trisomy 18,3 with trisomy 13 and 5 with 45 ,X monomer. Prenatal ultrasound showed single malformation in 4 cases, multi-malformation in 13 cases and separate ultrasonographic soft markers in 3 cases. Fetuses with trisomy 18,trisomy 13 and 45,X monomer were all had obvious structural abnormalities detected by ultrasound , otherwise, 3 cases of trisomy 21 had only ultrasonographic soft markers. In

  4. [The role of fetal echocardiography in the prenatal diagnosis of aneuploidy based upon prenatally diagnosed patau syndrome fetuses (case analysis)].

    Science.gov (United States)

    Janiak, Katarzyna; Kaczmarek, Piotr; Krasoń, Aneta; Nowicki, Grzegorz; Piotrowicz, Małgorzata; Respondek-Liberska, Maria

    2002-07-01

    Assessment of usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 13 (retrospective analysis). Between 1994-1999 at the Department for Diagnosis of Congenital Malformation at the Institute of PPMH in 11 fetuses with Patau Syndrome ultrasound and echocardiography examination were performed. In our study the most of cases come from low risk of pregnant women. Fetal heart defect was the most common anomaly diagnosed prenatally in fetuses with Patau Syndrome (7/11), the second one were central nervous system anomalies (6/11) and genitourinary system anomalies (6/11).

  5. The application of ultrasound-guided amniocentesis in prenatal diagnosis%B超引导下羊膜腔穿刺术在产前诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    黄瑞霞; 孔敏莉; 刘广珍; 梁西岚; 陈小乐; 唐莉

    2011-01-01

    Objective To investigate the safety of B-type ultrasound-guided amniocentesis in prenatal diagnosis, and the values of karyotype analysis of amniocytes and detection of thalassemia gene. Methods 103 women with a gestational age of 16 to 27 weeks who had received ultrasound-guided amniocentesis during November 2009 to January 2011 were included in this study. The amniotic cell culture was performed for chromosomal analysis; For the couples who had the same thalassemia gene, detection of thalassemia gene in amniocytes was performed. Results Amniotic cell culture was successful in 102 of the 103 women. Abnormal karyotype was detectable in 9(8.8%)women, one of whom(11.1%)was 21- trisome and the remaining 8(88.9%)were other abnormal karyotypes. Thalassemia gene was detectable in 24 women, 5 of them(20.8%)had major thalassemia. Conclusions For the pregnant women with abnormal prenatal diagnosis, it is highly necessary to administer ultrasound-guided amniocentesis for karyotype analysis of amniocytes and detection of thalassemia gene. Ultrasound-guided amniocentesis is a safe, effective, reliable, invasive method of prenatal diagnosis.%目的 探讨B超引导下的羊膜腔穿刺术在产前诊断应用中的安全性及羊水细胞染色体核型分析、地中海贫血基因检测在产前诊断中的应用价值.方法 选取2009年11月至2011年1月妊娠16~27周在茂名市妇幼保健院行B超引导下羊膜腔穿刺术的孕妇103例,对羊水中胎儿脱落细胞进行培养,做染色体核型分析;夫妇双方同种类型地中海贫血者,行羊水细胞地中海贫血基因检测.结果 B超引导下的羊膜腔穿刺术103例.羊水细胞培养成功102例,检出异常核型9例,检出率为8.8%,其中三体综合征1例,占11.1%,其他异常8例,占88.9%;羊水地中海贫血基因检测24例,其中重犁地中海贫血5例,占20.8%.结论 产前针对有指征的孕妇于中孕期行B超引导下羊膜腔穿刺术,进行羊水细胞培养染色体核

  6. 胎儿胼胝体发育不良的超声和磁共振对比观察%Comparison of ultrasound and MRI in the prenatal diagnosis of agenesis of corpus callosum

    Institute of Scientific and Technical Information of China (English)

    姜小力; 邓学东; 李晓兵

    2011-01-01

    Objective To observe the value of ultrasound (US) and MRI in the prenatal diagnosis of agenesis of corpus callosum (ACC).Methods Fetal ACC was suspected in 16 pregnant women by prenatal US.Fetal MRI was performed within 3 days after prenatal US.The findings of prenatal US and fetal MRI were compared with the results of autopsy or following up imaging data after birth.Results Sixteen fetuses were detected in 16 pregnant women.Fourteen fetuses of ACC suspected with prenatal US were confirmed with MRI (5 confirmed with following-up after birth and 9 with autopsy).Another 2 fetuses were not ACC, 1 was ventriculomegaly companying with gray matter translocation and the other was cerebral white matter and brain stem hypoplasia.Of all the fetal ACC confirmed with MRI, US was consistent with MRI in 7 fetuses, and other 7 fetuses were suspected with US.For the other associated abnormalities in central nervous system,MRI was consistent with prenatal US in 7 fetuses.MRI demonstrated more associated abnormalities than US in 4 fetuses.Conclusion US is the optimal choice for detecting fetal anomalies.However, MRI is superior to US in the diagnosis of ACC and contributes to the definite diagnosis of ACC and possible associated abnormalities.%目的 探讨超声与MRI在胎儿胼胝体发育不良(ACC)产前诊断中的应用价值.方法 超声怀疑胎儿ACC孕妇16名,均在超声检查后3天内接受胎儿MR检查.将超声、MRI结果与出生后或引产后结果对照.结果 16名孕妇共检出胎儿16胎,MRI证实14胎为胎儿ACC(出生后随访证实5胎,引产后证实9胎),1胎为单纯双侧脑室扩张伴灰质易位,1胎为脑白质、脑干发育不良.MRI与超声比较,诊断胎儿ACC一致者7胎;超声可疑、MRI肯定者7胎;对于其伴发中枢神经系统畸形,两者一致者7胎,MRI多于超声者4胎.结论 超声检查是产前筛查胎儿ACC的普遍方法;MRI对胎儿ACC的显示明显优于超声,有助于明确诊断胎儿ACC并判断其分型及合并畸形.

  7. Evaluation of the value for prenatal ultrasound applied in diagnosis and identification of congenital pulmonary sequestration%产前超声检查在胎儿隔离肺诊断与鉴别中的价值

    Institute of Scientific and Technical Information of China (English)

    王渝洲; 肖咸英

    2012-01-01

    目的 探讨产前超声检查在胎儿隔离肺诊断与鉴别中的价值,以提高隔离肺的产前诊断率.方法 应用超声检查对15例疑诊胎儿隔离肺孕妇行中晚期系统胎儿畸形筛查,重点扫查胎儿双侧肺,观察病灶的二维超声图像特征,并用CDFI探查病灶的血供来源及内部血流情况,同时注意是否合并其他胎儿结构异常,随访临床影像或病理检查结果.结果 13例胎儿产后病理或影像学检查证实为隔离肺,产前超声诊断的准确率为86.7%(13/15例);2例肺囊腺瘤(13.3%)误诊.胎儿隔离肺典型二维超声图像特征是:胎儿胸腔内或腹腔内强回声或稍强回声团块、呈三角形或叶状、内部回声均匀、边界清.与肺囊腺瘤鉴别诊断的关键是隔离肺供血动脉来自体循环动脉或其分支.结论 产前超声是胎儿隔离肺畸形诊断与鉴别诊断较准确、可靠的方法,具有重要的临床应用价值.%Objective To evaluate the value for prenatal ultrasound applied in diagnosis and identification of congenital pulmonary sequestration. Methods 15 cases of pregnant women suspected fetal PS were examined in the late systemic fetal malformation screening, focus scanning for the fetus with bilateral lung observed lesions of the two dimensional ultrasound images feature, and the blood flow of the blood supply and internal lesions CDFI probe. Also note that a merger of other fetal structural abnormalities, follow up clinical and imaging or pathological examination. Results 13 cases patients with PS were confirmed by the postpartum fetal pathology or imaging studies, the coincidence rate was approximately 86. 7% (13/15),There were 2 cases patients who belonged to missed diagnosis as pulmonary cystadenoma. The PS is characterized by a typical two dimensional ultrasound image of chest or abdominal fetal echogenic mass or slightly stronger echo, triangular or leaf, the internal echo uniform,border clearance. The key to the

  8. Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound

    Institute of Scientific and Technical Information of China (English)

    Claudio; Rodrigues; Pires; Edward; Araujo; Júnior; Adriano; Czapkowski; Sebasti?o; Marques; Zanforlin; Filho

    2014-01-01

    Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities(spasms),agenesis of the corpus callosum and ophthalmological abnormalities(chorioretinal lacunae).The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum.Usually,the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.We present a case of newborn with Aicardi syndrome,being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure.Ophthalmological examination showed bilateral chorioretinal lacunae.

  9. Callosal agenesis followed postnatally after prenatal diagnosis.

    Science.gov (United States)

    Imataka, George; Nakagawa, Eiji; Kuwashima, Shigeko; Watanabe, Hiroshi; Yamanouchi, Hideo; Arisaka, Osamu

    2006-09-01

    Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

  10. Diagnóstico prenatal del pie bot Prenatal diagnosis of clubfoot

    Directory of Open Access Journals (Sweden)

    Julio Javier Masquijo

    2011-12-01

    the method, the association with other diseases and the need to perform amniocentesis analysis of the karyotype. Objectives. To analyze the percentage of patients with prenatal diagnosis of clubfoot, evaluate mothers' opinion on this issue, and clarify some concepts by reviewing the literature available to date. Methods. We retrospectively analyzed a group of 54 consecutive patients diagnosed with clubfoot treated from January 2008 to June 2010. We documented the number of ultrasounds performed during pregnancy, type of ultrasound (2D, 3D or 4D and the gestational week at diagnosis. Mothers were surveyed to ascertain their opinion with regard to prenatal diagnosis. Results. An average of 3.2 ultrasounds was performed during pregnancy (r, 1-7. Prenatal diagnosis was performed in 25% of cases (13/52 patients. Diagnosis was performed in 7 cases with 2-D ultrasound in 4 with 3-D and in 2 with 4-D. Diagnosis was performed on average at week 22 (r, 20- 28. No patient was diagnosed early, 12 were diagnosed late and 1 very late. Conclusion. Prenatal diagnosis gives parents the opportunity for psychological preparation and counseling regarding clubfoot. In our series, 90.4% supported prenatal diagnosis.

  11. 产前超声在胎儿染色体异常筛查中的临床价值%The clinical signficance of ultrasound in prenatal diagnosis of chromosome abnomality

    Institute of Scientific and Technical Information of China (English)

    马思思; 叶风; 陈蓉蓉; 陈利民

    2012-01-01

    目的 探讨产前超声在胎儿染色体异常筛查中的临床价值.方法 2008.1~2011.3孕期在我中心行羊水及脐血穿刺3702例病例,诊断染色体核型异常221例,221例孕妇中至少产前在我院接受过1次超声检查者共37例,其中21-三体儿19例,18-三体儿5例,13-三体儿2例,45 - XO儿11例.孕妇年龄21 ~40岁,接受超声检查平均孕周17+~25+周,对其超声声像图进行回顾性分析.结果 本研究37例胎儿,除了8例21-三体儿超声表现未见异常外,另外29例超声均提示至少一个或一个人以上的染色体软指标或结构异常.结论 不同类型的染色体异常有不同的结构畸形谱,了解并掌握不同类型染色体异常各自特定的畸形谱声像图,可以发挥产前超声在胎儿染色体异常筛查中的临床价值.%Objective; To assess the signficance of ultrasound in prenatal diagnosis of chromosome abnomality. Methods: From January 2008 to March 2011, data about 3702 pregnant women and 221 fetuses with chromosome banomalities fetuses (221/3702) were analyzed. The study groups consisted of 19 fetuses with trisomy 21, 5 fetuses with trisomy 18, 2 fetuses with trisomy 13, 11 fetuses with Turner syndrome. In the retrospective study, we evaluated 221 fetuses with gestational age between 17 ~25 weeks and pregnant women age between 21 to 40 years old. Results; At least one or more than one abnormal fetal sonograms were detected in 29 fetuses except 8 fetuses. Conclusion; Chromosomeabnormality have remarkablesonographicsigns. Antenatal ultrasound screening plays an important role in prenatal diagnosis of chromosomal abnomalities.

  12. The role of prenatal ultrasound and MRI in diagnosis of fetal agenesis of corpus callosum%胎儿胼胝体缺如产前超声及磁共振诊断的应用分析

    Institute of Scientific and Technical Information of China (English)

    兰为顺; 杨小红; 夏薇; 刘芳; 余旭东; 袁先宏; 李琳; 苏永学; 杨文忠; 陈欣林

    2015-01-01

    目的分析胎儿胼胝体缺如的产前超声及磁共振诊断价值。方法对2013年7月至2014年12月湖北省妇幼保健院产前超声筛查怀疑胼胝体缺如的67例胎儿于超声检查后3 d内行颅脑磁共振检查,与引产或出生后检查结果对照,对产前超声及磁共振检查结果进行分析。结果产前超声怀疑胼胝体缺如的67例胎儿磁共振检查后均证实为胼胝体缺如,其中胼胝体完全缺如58例,胼胝体部分缺如9例(均为胼胝体体部和压部缺如)。胎儿胼胝体缺如在磁共振正中矢状位图像上表现为胼胝体完全或部分缺如,脑回呈放射状排列;在横轴位和冠状位图像上表现为侧脑室轻至中度扩张,形态失常。结论磁共振对胎儿胼胝体缺如有较高的诊断价值,可作为产前超声的补充和验证方法,在产前超声检查怀疑胎儿胼胝体异常时,应行胎儿磁共振检查明确诊断。超声与磁共振联合筛查,是胎儿中枢神经系统畸形产前检查中重要的影像学诊断方法。%Objective To discuss the value of prenatal ultrasound and MRI in diagnosis of fetal agenesis of corpus callosum (ACC). Methods Sixty-seven fetuses from Hubei Maternal and Children's Hospital performed fetal MRI from July 2013 to December 2014 were included in this study. All fetuses (67 cases) with suspected ACC were studied with a 1.5T MR unit within 3 days after ultrasound examination. Prenatal ultrasound and MRI findings were studied. Results All the 67 ACCs previously suspected on ultrasound were confirmed by MRI. Among the 67 ACCs, 58 cases were complete ACC and 9 cases were partial ACC. Corpus callosum body and/or splenium absence was found in all 9 partial ACC cases. In all cases, on MRI, corpus callosum complete or partial absence was showed on the median sagittal images, and mild to moderate ventriculomegaly and abnormal morphology in lateral ventricle was shown on the axial or coronary images

  13. Application of Cordocentesis Guided by Transabdominal Ultrasound in Prenatal Diagnosis%超声引导下脐静脉穿刺用于产前诊断的临床分析

    Institute of Scientific and Technical Information of China (English)

    李晓峰; 龚斐; 肖红梅; 谭跃球; 林戈

    2013-01-01

      目的:探讨超声引导下脐静脉穿刺术在产前诊断中的应用。方法:收集中信湘雅生殖与遗传专科医院2004-2012年行超声引导下脐静脉穿刺检测胎儿染色体核型的158份病例(夫妇一方有染色体异常携带组21例,超声发现胎儿异常或可疑畸形、羊水量异常组58例,妊娠妇女血清学筛查高风险组38例,不良生育史组41例),分析手术指征、穿刺并发症等,并追踪其妊娠结局。结果:穿刺成功率100%。异常染色体检出率为6.96%(11/158)。4组间异常染色体检出率比较差异无统计学意义(χ2=7.377,P=0.061)。术后胎儿一过性心动过缓17例(10.8%);短暂性脐带或胎盘出血97例(61.4%),无早产、宫内感染、胎盘早剥等严重并发症。引产11例,出生畸形3例。结论:超声引导下脐静脉穿刺是一种较为安全、有效的产前诊断方法;经产前诊断检查正常也可能出现后期出生缺陷,因此需结合超声等进一步检查以提高诊断效率,有效减少患儿出生。%Objective: To evaluate the efficacy and safety of cordocentesis guided by transabdominal ultrasound during pregnancy for prenatal diagnosis. Methods:The cordocenteses under transabdominal ultrasound guidance were performed in 158 cases with proper indications for fetal chromosome analysis at Reproductive&Genetic Hospital of CITIC-XIANGYA during 2004 to 2012(21 cases of chromosomal anomaly of gravida or her husband,58 cases of hinting abnormal by ultrasound,38 cases of bad pregnancies history,41 cases of serology screening is positive of gravid). The abnormal karyotypes rate,operational indications, complications and pregnancy outcomes were analyzed. Results: The success rate of cordocentesis was 100%. There were 11 abnormal karyotypes in those 158 cases(6.96%)detected by cordocentesis. The difference in the abnormal karyotypes rate among four groups was not significant (χ2=7.377,P=0

  14. Ultrasound Fracture Diagnosis in Space

    Science.gov (United States)

    Dulchavsky, Scott A.; Amponsah, David; Sargsyan, Ashot E.; Garcia, Kathleen M.; Hamilton, Douglas R.; vanHolsbeeck, Marnix

    2010-01-01

    Introduction: This ground-based investigation accumulated high-level clinical evidence on the sensitivity and specificity of point of care ultrasound performed by expert and novice users for the rapid diagnosis of musculoskeletal (MSK) injuries. We developed preliminary educational methodologies to provide just-in-time training of novice users by creating multi-media training tools and imaging procedures for non expert operators and evaluated the sensitivity and specificity of non-expert performed musculoskeletal ultrasound to diagnose acute injuries in a Level 1 Trauma Center. Methods: Patients with potential MSK injuries were identified in the emergency room. A focused MSK ultrasound was performed by expert operators and compared to standard radiographs. A repeat examination was performed by non-expert operators who received a short, just-in-time multimedia education aid. The sensitivity and specificity of the expert and novice ultrasound examinations were compared to gold standard radiography. Results: Over 800 patients were enrolled in this study. The sensitivity and specificity of expert performed ultrasound exceeded 98% for MSK injuries. Novice operators achieved 97% sensitivity and 99% specificity for targeted examinations with the greatest error in fractures involving the hand and foot. Conclusion: Point of care ultrasound is a sensitive and specific diagnostic test for MSK injury when performed by experts and just-in-time trained novice operators.

  15. Study of fluorescence in situ hybridization in prenatal diagnosis of abnormal ultrasound gravida%荧光原位杂交技术在产前超声诊断异常患者中的应用

    Institute of Scientific and Technical Information of China (English)

    周丽颖; 贾婵维; 李颖; 余兰; 梁毓; 兰永连; 王树玉

    2012-01-01

    目的 应用荧光原位杂交(FISH)技术及细胞学对照,评价产前超声诊断异常患者胎儿的染色体异常.方法 应用5种(21、13、18、X和Y)FISH探针,平行细胞染色体分析进行133名产前超声诊断异常孕妇胎儿的染色体核型.结果 133例产前超声诊断异常孕妇,共检出非整倍体异常核型34例,FISH检测与细胞染色体分析结果一致.胎儿颈项透明层(NT)增厚作为标记21-三体综合征的特异性指标,在同时合并高龄(年龄>35岁)的孕妇中,高度提示发生21-三体综合征的可能.结论 荧光原位杂交,能有效检测绝大多数胎儿染色体非整倍体异常.对于NF合并高龄孕妇,应结合该技术确定胎儿染色体是否异常.%Objective: To evaluate the application of fluorescence in situ hybridization (FISH) in prenatal diagnosis of abnormal ultrasound gravida. In the mean time, cytogenetic karyotype analysis was performed as control. Methods; 5 chromosomes (21, 13, 18, X and Y) were detected with FISH. 133 abnormal ultrasound gravidas were selected for investigation. Results; Of all the 133 gravidas, 34 samples were shown with abnormal karyotypes. results of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes. As a specify index, nuchal translucens increase and >35 year old was high correlated with trisomy 21 syndrome. Conclusion; FISH can effectively detect most fetal aneuploidy. For abnormal ultrasound gravid with >35 year old, final diagnosis should be done as soon as possible.

  16. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    Science.gov (United States)

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  17. WOMENS OPINIONS ON THE OFFER AND USE OF PRENATAL-DIAGNOSIS

    NARCIS (Netherlands)

    TYMSTRA, T; BAJEMA, C; BEEKHUIS, [No Value; MANTINGH, A

    1991-01-01

    We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the d

  18. 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.

  19. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  20. Fetal MRI in Prenatal Diagnosis of CNS Abnormalities

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-02-01

    Full Text Available The value of fetal MRI (fMRI compared to ultrasound in the prenatal detection of CNS abnormalities and impact on counseling were determined in 25 pregnant women examined at University of Dusseldorf, Germany.

  1. Prenatal diagnosis and management in fetuses with cystic hygromata colli.

    Science.gov (United States)

    Gembruch, U; Hansmann, M; Bald, R; Zerres, K; Schwanitz, G; Födisch, H J

    1988-12-01

    We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

  2. Confirmation of prenatal diagnosis of sex chromosome mosaicism.

    Science.gov (United States)

    McFadden, D E; Kalousek, D K

    1989-04-01

    Prenatal diagnosis of mosaicism causes problems in interpretation and in genetic counselling. Part of the difficulty with any prenatal diagnosis of mosaicism is interpretation of results without knowing the exact origin, embryonic or extraembryonic, of the abnormal cell line. To confuse the issue in cases of prenatal diagnosis of 45,X/46,XY mosaicism is the recent demonstration that a diagnosis of 45,X/46,XY made prenatally is not necessarily associated with the same phenotype as when diagnosed postnatally. We present two cases of prenatal diagnosis of sex chromosome mosaicism (45,X/46,XY and 45,X/47,XYY). Posttermination examination of the phenotypically normal male fetuses and their placentas established that the placenta was the most likely source of the 45,X cell line. An approach to confirming the prenatal diagnosis of sex chromosome mosaicism and establishing its origin utilizing detailed cytogenetic examination of both fetus and placenta is suggested.

  3. Risks of ultrasound-guide amniocentesis and cordocentesis for prenatal diagnosis%B超引导下脐带及羊膜腔穿刺术风险评估

    Institute of Scientific and Technical Information of China (English)

    应萍; 陈小明; 张秀兰

    2011-01-01

    Objective: To assess the potential risks of ultrasound -guide amniocentesis and cordocentesis for prenatal diagnosis.Methods: From November 2007 to October 2008, 1015 cases who had prenatal diagnosis in our hospital were reviewed, and the pregnant outcomes were followed up by phone. Results: In all cases, there were 18 loss of follow -up and 57 induced labor because of fetal malformation. There were totally 4 cases of fetal loss, one of them had occurred after cordocentesis which were performed twice and through placenta while the other 3 cases happened after operation without through placenta. Conclusion: It may increase the risk of fetal loss that amniocentesis or cordocentesis is taken through placenta, especially with more times of operation.%目的 评价B超引导下脐带及羊膜腔穿刺术的安全性和潜在的风险,为进一步规范操作提供理论依据.方法 回顾本院2008年1月~2009年1月份,在本院进行产前诊断病例总1015例,所有病例进行电话随访至分娩后.对是否经过胎盘穿刺以及不同穿刺次数与妊娠结局之间的关系进行比较.结果 所有病例中,57例因诊断为胎儿异常行引产术,18例失访,剩下940病例中,非引产胎儿自然流失共4例(0.43%),其中1例为经过胎盘且穿刺2次以上者(3.03%),另3例为未经胎盘穿刺者(0.48%).结论 经过胎盘穿刺时,增加穿刺次数可能会增加胎儿不良结局的发生.

  4. Congenital epulis: prenatal imaging with MRI and ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Roy, Sylvain; Patenaude, Yves G. [Department of Diagnostic Radiology, CHUS-Hopital Fleurimont, 3001 12 Ave Nord, J1H 5N4, Fleurimont, Quebec (Canada); Sinsky, Anna [Department of Diagnostic Radiology, UNC School of Medicine, 3322 Old Infirmary Building, NC 27599-7510, Chapel Hill (United States); Williams, Bruce [Department of Surgery, Montreal Children' s Hospital, Room C1139, 2300 Tupper Street, H3H 1P3, Montreal, Quebec (Canada); Desilets, Valerie [Department of Obstetrics and Gynecology, Royal Victoria Hospital, 687 Pine Avenue West, H3A 1A1, Montreal, Quebec (Canada)

    2003-11-01

    Congenital epulis is an uncommon benign tumor that originates from the alveolar ridge in newborns. It is also known as congenital gingival granular cell tumor. Although there have been around 200 reports of its postnatal diagnosis, this oral tumor has rarely been diagnosed prenatally. We present fetal MRI and Doppler prenatal imaging of an infant with two congenital epulides (simultaneous involvement of superior and inferior maxillas). (orig.)

  5. Why women want prenatal ultrasound in normal pregnancy

    DEFF Research Database (Denmark)

    Gudex, Claire; Nielsen, Bentt Løwe; Madsen, Monika

    2006-01-01

    Objectives To investigate women's reasons for requesting prenatal ultrasound in the absence of clinical indications. Methods A postal questionnaire was completed by 370 pregnant women with no apparent obstetric risk factors, who had expressed a desire to have ultrasound scanning in their current...... for ultrasound were to check for fetal abnormalities (60% of women) to see that all was normal (55%) and for own reassurance (44%). Lower income was related to wanting to see the baby (P=0.028) and wanting an ultrasound picture (P=0.017); higher income was related to checking that all was normal (P=0......-003) and for own reassurance (P=0.015). Women in their first pregnancy were more likely to want themselves and the father to see the baby (P=0.001); women who had given birth previously were more likely to want reassurance (P=0.002), as were women with a previous miscarriage or induced abortion. Women who believed...

  6. Value of standard prenatal ultrasound diagnosis for absent fetal hand%规范产前超声检查诊断胎儿手缺失的价值

    Institute of Scientific and Technical Information of China (English)

    孙小平; 宋风菊; 杜宝琴; 孟红哲; 黄瑛; 张彬; 刘会敏; 郑莉华; 庄英军; 宋兰萍

    2011-01-01

    Objective To evaluate the efficacy of standardized prenatal ultrasound screening used in diagnosis of absent fetal hand. Methods A total of 51 720 pregnant women received the standardized ultrasound screening and color dopplor ultrasonography. The continuous sequence approach ( SCSA ) of ultrasound was used to observe the morphology posture, structure and movement of fetal limbs, especially the themorphology posture and the status of hands. The patients were screened in four stages( 11 to 14 weeks, 18 to 24 weeks, 25 to 32 weeks, 33 to 40 weeks ). 18-24 weeks and 25-32 weeks were two important periods. Results Sixty-two cases were detected with fetal limb deformity, and they can be divided into nine kinds : 1 case of absent forearm, 2 cases of different length of bilateral femoral, 2 cases of absent leg, 7 cases of absent hand, 8 cases of pairs of limb posture abnormalities , 9 cases of radial deficiency, 10 cases of varus foot, 11 cases of short limbs deformity, and 12 cases of multiple fingers( toes ). 21 of the 62 cases were complicated with other malformations, which were confirmed by postnatal operation. 51 cases were detected with fetal limb deformity by prenatal ultrasound exzamination( 82.26% ,51/62 ), and 11cases were missed ( 17.74% , 11/62 ). Only 2 of 7 hand-absent cases combined with other malformations( 1 bilateral fetal polycystic kidney disease, 1 ventricle slightly wider 12 mm ). All 7 hand-absent cases were confirmed by postnatal examination( 7/7 ). Conclusion The standard prenatal ultrasound diagnosis for absent fetal hand is an important diagnostic imaging method.%目的 探讨连续顺序追踪超声法在产前胎儿手缺失筛查中的应用价值.方法 采用连续顺序追踪超声法(SCSA) 对51 720例孕妇分4个阶段(孕11~14周、18~24周、25~32周、33~40周)进行规范化产前超声检查,以18~24周、25~32周作为常规检查肢体的两个重要时期.每一孕周超声筛查时均逐一观察胎

  7. NON-INVASIVE PRENATAL DIAGNOSIS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Madhusudan Dey, Sumita Agarwal and Sumedha Sharma

    2013-04-01

    Full Text Available ABSTRACT: Aneuploidies are one of the important causes of perinatal morbidity and mortality. Initially screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high risk for aneuploidies were offered invasive testing. Recently, various methods including non-invasive prenatal testing (NIPT by analysis of cell-free fetal DNA (cffDNA in maternal blood has shown promise for highly accurate detection of common fetal autosomal trisomies. Incorporating these new non-invasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counselling plays an integral role. The advantage of the technique being elimination of risks such as miscarriage associated with invasive diagnostic procedures. But then this new technique has its own set of technical limitations and ethical issues at present and further research is required before implementation. Data was obtained through a literature search via Pubmed and Google as well as detailed search of our library database.

  8. 不同孕周产前超声筛查胎儿畸形的临床意义%Clinical value of ultrasound on the prenatal diagnosis of fetal malformation at different gestational age

    Institute of Scientific and Technical Information of China (English)

    张晓新; 张爱青; 杨娅; 贾忠桃; 钱晶; 姜红红

    2013-01-01

    目的:探讨不同孕周产前超声筛查胎儿畸形的临床意义。方法回顾性分析2011年7月至2012年12月均于我院行孕早期(11~13+6周)及中孕早期(14~17+6周)、孕中期(18~27+6周)、孕晚期(28~40+6周)超声筛查的孕妇的筛查结果,并与产后或尸解结果对照。结果5287例胎儿产前超声筛查检出胎儿畸形共计94例(其中复合畸形11例)105项畸形,引产及分娩后证实胎儿畸形110项。未检出的5项胎儿畸形分别为:室间隔缺损2例,多指2例,腭裂1例。孕早期及中孕早期超声筛查检出胎儿畸形15例,以中枢神经系统畸形为主。孕中期筛查检出胎儿畸形77例,中枢神经系统畸形占首位,其次为颜面部畸形、心血管系统畸形。孕晚期筛查检出胎儿畸形13例,分别为中枢神经系统和四肢骨骼系统畸形及腹盆腔占位各3例、颈面部畸形2例、胸腹壁和心血管系统畸形各1例。孕早、中、晚孕期筛查占超声筛查结构异常胎儿的比例分别为14.3%、73.3%、12.4%。结论孕早期及中孕早期超声筛查可对部分严重的胎儿畸形早期诊断,孕中期超声筛查可检出大部分胎儿畸形,孕晚期超声筛查对迟发性畸形有诊断意义。三个阶段超声筛查对诊断胎儿结构异常有着非常重要的临床价值,我们应掌握不同孕周超声筛查的特点,提高检出率,为临床诊断提供可靠的参考。%Objective To evaluate the value of ultrasound on the prenatal diagnosis of fetal malformation at different gestational age. Methods A retrospective analysis was performed in the pregnant women who had been detected by ultrasound in our hospital through the pregnancy trimester (11-17+6, 18-27+6, 28-40+6 week's gestation) from July 2011 to December 2012. Results 105 fetal malformation cases(94 one-malformation cases and 11 complicated-malformation cases) out of 5287 fetuses were detected by

  9. Mesenchymal hamartoma: prenatal diagnosis by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Chu, Leysia [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); Seed, Mike [The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada); Howse, Erica; Ryan, Greg [University of Toronto, Fetal Medicine Unit, Mount Sinai Hospital, Toronto (Canada); Grosse-Wortmann, Lars [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada); The Hospital for Sick Children, Division of Cardiology, Department of Paediatrics, Toronto (Canada)

    2011-06-15

    The clinical presentation of thoracic mesenchymal hamartomas varies from an asymptomatic chest wall mass to severe respiratory distress resulting from compression of the airways and lungs. We present the findings on fetal US and MRI of a histologically confirmed case. Following surgical resection, pathological examination corresponded to the cross-sectional imaging features with haemorrhagic, cystic and calcified components. An awareness of the characteristic imaging findings will allow accurate diagnosis of this condition, even prenatally, and thus facilitate appropriate perinatal management and surgical planning. (orig.)

  10. Prenatal toxoplasmosis diagnosis from amniotic fluid by PCR

    Directory of Open Access Journals (Sweden)

    Vidigal Paula Vieira Teixeira

    2002-01-01

    Full Text Available Toxoplasmosis is one of the most common infections all over the world. Most cases are asymptomatic, except in immunosuppressed individuals and fetuses, which can be seriously damaged. Prenatal diagnosis should be made as soon as possible since treatment of the mother can minimize fetal sequelae. Our aim in this study was to test the polymerase chain reaction technique (PCR in 86 samples of amniotic fluid from women who seroconverted during pregnancy. DNA was amplified using external primers and, in a second step, internal primers, in a nested PCR system. Samples were also inoculated into mice and the newborn were evaluated by T. gondii serology, skull x-ray, transfontanel ultrasound, fundoscopic examination, lumbar puncture and clinical examination. PCR was positive in seven cases and negative in 79. Among PCR-positive cases, two were negative by inoculation into mice and by clinical evaluation; among PCR-negative ones, three had clinical evidence of toxoplasmosis and one was positive after inoculation into mice. PCR showed values of sensitivity = 62.5% and specificity = 97.4%; the values of inoculation into mice where 42.9% and 100%, respectively. Although PCR should not be used alone for prenatal diagnosis of congenital toxoplasmosis, it is a promising method and deserves more studies to improve its efficacy.

  11. Accreta placentation: a systematic review of prenatal ultrasound imaging and grading of villous invasiveness.

    Science.gov (United States)

    Jauniaux, Eric; Collins, Sally L; Jurkovic, Davor; Burton, Graham J

    2016-12-01

    Determining the depth of villous invasiveness before delivery is pivotal in planning individual management of placenta accreta. We have evaluated the value of various ultrasound signs proposed in the international literature for the prenatal diagnosis of accreta placentation and assessment of the depth of villous invasiveness. We undertook a PubMed and MEDLINE search of the relevant studies published from the first prenatal ultrasound description of placenta accreta in 1982 through March 30, 2016, using key words "placenta accreta," "placenta increta," "placenta percreta," "abnormally invasive placenta," "morbidly adherent placenta," and "placenta adhesive disorder" as related to "sonography," "ultrasound diagnosis," "prenatal diagnosis," "gray-scale imaging," "3-dimensional ultrasound", and "color Doppler imaging." The primary eligibility criteria were articles that correlated prenatal ultrasound imaging with pregnancy outcome. A total of 84 studies, including 31 case reports describing 38 cases of placenta accreta and 53 series describing 1078 cases were analyzed. Placenta accreta was subdivided into placenta creta to describe superficially adherent placentation and placenta increta and placenta percreta to describe invasive placentation. Of the 53 study series, 23 did not provide data on the depth of villous myometrial invasion on ultrasound imaging or at delivery. Detailed correlations between ultrasound findings and placenta accreta grading were found in 72 cases. A loss of clear zone (62.1%) and the presence of bridging vessels (71.4%) were the most common ultrasound signs in cases of placenta creta. In placenta increta, a loss of clear zone (84.6%) and subplacental hypervascularity (60%) were the most common ultrasound signs, whereas placental lacunae (82.4%) and subplacental hypervascularity (54.5%) were the most common ultrasound signs in placenta percreta. No ultrasound sign or a combination of ultrasound signs were specific of the depth of accreta

  12. Prenatal Sonographic Diagnosis of Acardiac Twins

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Ah; Song, Mi Jin [Cheil General Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2006-09-15

    This study was performed to present the prenatal sonographic findings and the associated abnormalities of acardiac twins. Seven cases of acardiac twins were reviewed retrospectively. Prenatal ultrasonography was performed in all patients at a gestational age between 12 and 27 weeks (mean 17.6 weeks). Autopsy was performed in four cases. The sonographic and autopsy findings were reviewed to report the associated abnormalities of the acardiac and donor fetuses. The diagnosis of acardiac twins was made on the basis of ultrasonography (n=6) or autopsy (n=1). The associated abnormalities of the acardiac fetuses were single umbilical artery (SUA) (n=5), abdominal wall defect (n=4), club feet (n=4), scoliosis (n=1), cleft lip and palate (n=1), digital anomaly (n=1), and umbilical cord cyst (n=1). In four of the donor fetuses, sonographic abnormalities were found. Autopsy was performed in three of the four cases to reveal hydropic change (n=2), diaphragmatic hernia (n=1) and multiple structural abnormalities of interventricular septal defect, polydactyly, club feet and SUA (n=1). Intrauterine fetal death occurred in five donors and follow-up was lost in the remaining two. Meticulous sonography enables the diagnosis of acardiac twins at an early gestational age and can reveal the associated abnormalities of the donor fetus as well as the acardiac fetus

  13. Prenatal diagnosis of cyclopia associated to trisomy 13.

    Directory of Open Access Journals (Sweden)

    Harry Pachajoa

    2009-11-01

    Full Text Available A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.

  14. Prenatal diagnosis in women of advanced maternal age

    NARCIS (Netherlands)

    H. Brandenburg (Helen)

    1992-01-01

    textabstractIn this thesis several aspects of prenatal diagnosis in women of advanced maternal age were studied. The effects of the increasing number of elderly gravidas. the lowering of the maternal age at which prenatal diagnosis became accessible and the introduction of chorionic villus sampling,

  15. Prenatal 2-dimensional and 3-dimensional ultrasonography diagnosis and autoptic findings of isolated ectopia cordis.

    Science.gov (United States)

    Bianca, S; Bartoloni, G; Auditore, S; Reale, A; Tetto, C; Ingegnosi, C; Pirruccello, B; Ettore, G

    2006-01-01

    Ectopia cordis is a very rare congenital malformation, commonly associated with intracardiac anomalies. It is due to a defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. We report prenatal 2-dimensional (2D) and 3D ultrasonography diagnosis and postnatal autoptic findings of an isolated ectopia cordis with tricuspid atresia. Ectopia cordis prenatal diagnosis is easily made with ultrasound by visualizing the heart outside the thoracic cavity. 3D ultrasonography may add more detailed visualization of the heart anomaly even if the 2D ultrasonography alone permits the prenatal diagnosis. Obstetrical management should include a careful search for associated anomalies, especially cardiac, and the assessment of fetal karyotype. As this is considered a sporadic anomaly, the recurrence risk is low and no genetic origin is known.

  16. Diagnosis of spina bifida on ultrasound: always termination?

    Science.gov (United States)

    Trudell, Amanda S; Odibo, Anthony O

    2014-04-01

    Open spina bifida is a non-lethal fetal anomaly. Significant advances in the prevention, diagnosis and treatment of open spina bifida have been made over the past 75 years. The most significant strategy for the prevention of open spina bifida has been with folic acid supplementation; however, further investigation into the complicated role that genetics and the environment play in metabolism are coming to light. Ultrasound is the gold standard diagnostic tool for spina bifida. Three-dimensional ultrasound and magnetic resonance imaging are also beginning to play a role in the characterisation of the open spina bifida spinal lesion. Lesion level has been closely correlated to short and long-term outcomes, and prenatal characterisation of lesion level on ultrasound is important for patient counselling. Long-term outcomes of people living with spina bifida are available and should be used for non-directive patient counselling about pregnancy choices for women with open spina bifida.

  17. Prenatal diagnosis of chorionicity in twins.

    LENUS (Irish Health Repository)

    Hassan, T

    2012-02-01

    The aim of this audit was to assess the accuracy of transabdominal ultrasound scan in predicting chorionicity in twin pregnancies in our unit. The presence or absence of lambda sign, T-sign, dividing membrane thickness and number of placentae were used to determine chorionicity. We retrospectively analysed these antenatal markers in 268 sets of twins delivered over a 5 year period and compared it with the postpartum placental histology and neonatal gender. Of 268 twin deliveries, 204 (76%) had both chorionicity and placental histology to compare. 67 of 84 (80%) were correctly diagnosed antenatally as monochorionic and 137 of 151 (91%) as dichorionic. In 31 cases (15%) the ultrasound diagnosis of chorionicity didn\\'t match placental histology. Seventeen were thought to be monochorionic antenatally but were confirmed dichorionic on placental histology. Overall chorionicity was correctly diagnosed in 171\\/204 (84%) using transabdominal ultrasound scan (USS) in all trimesters. However the sensitivity and specificity of USS was much higher for dichorionic twins when carried out before 14 weeks of gestation.

  18. Ultrasound diagnosis on the goiter

    Energy Technology Data Exchange (ETDEWEB)

    Igl, W.; Fink, V.; Leisner, B.; Gebauer, A.

    1981-03-04

    Sonography of the thyroid means facilitation to the differential diagnosis of the goiter, and if combined with the nuclear-medical methods, its accuracy is even increased. Cysts, thyreoditis de Quervain, morbus Basedow, and autonomous adenoma can be assumed due to the areals with low echo in the sonogram and they can be differentiated by the scintigram. In the case of iodine-free areals which can be manifested by fluorescence scintiscanning and normal echo pattern of the thyroid below a malignoma has to be suspected. The volume can be determined with an accuracy of +-10% by ultrasound, without needing long time. Knowing the thickness of the thyroid at places of increased storage in the scintigram, an impulse-thickness-quotient can be calculated which permits, in most cases, to diagnose an autonomous adenoma at a regional increased storage without suppression test.

  19. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  20. [Huntington disease: presymptomatic testing, prenatal diagnosis, preimplantation genetic diagnosis experience].

    Science.gov (United States)

    Durr, A; Viville, S

    2007-10-01

    Presymptomatic testing for Huntington disease has been available for 15 years. The possibility of determining the genetic status of an at-risk person for the disorder which runs in his or her family raises questions because of the absence of preventive treatments. In addition, being carrier does not allow to determine when the disease starts and how it will evolve, impairing the possibilities of planning the future. A pluridisciplinary approach to predictive testing with care before, during and after the test taking into account the medical, social and psychological aspects of the disease is good practice. At the present time, only a minority of at-risk individuals request presymptomatic testing and almost 50% do not pursue until the results. The consequences of the test may be harmful, more frequently after an unfavorable than after a favorable result. Motivations and the outcome in terms of request for prenatal testing after a carrier result are known today and the number or prenatal testing remains very limited. Preimplantation genetic testing is an alternative for couples who knows or do not their own genetic status. We report our experience in two French centres: Paris for presymptomatic and prenatal testing and Strasbourg for preimplantation diagnosis.

  1. Prenatal diagnosis of common single gene disorders by DNA technology

    OpenAIRE

    1997-01-01

    Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis ca...

  2. A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.

    Science.gov (United States)

    Kimura, Ibuki; Araki, Ryota; Yoshizato, Toshiyuki; Miyamoto, Shingo

    2015-10-01

    We present a case of osteogenesis imperfecta (OI) type 2A in which a natural course in utero was observed from 23 weeks' gestation to term. At 23 weeks' gestation, a sonographic examination showed a cloverleaf skull-like head, a narrow thorax, and marked shortening of the long bones with bowing of the femurs and humeri. Follow-up examinations showed that the cloverleaf skull-like head was not evident at 28 weeks' gestation. Discontinuity of the ribs and femurs was observed at 26 and 30 weeks' gestation, respectively. This finding suggested bone fractures, which were confirmed by three-dimensional computed tomography at 32 weeks' gestation. Ultrasonographic findings of bones, including the long bones and calvarium, changed with advancing gestation during the second trimester. Characteristic features of OI type 2A were evident during the late second to early third trimesters. Repeated ultrasonographic examinations together with three-dimensional computed tomography are necessary for the definitive diagnosis of OI type 2A in the second trimester.

  3. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    Science.gov (United States)

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  4. A Case of Ultrasound Diagnosis of Fetal Hiatal Hernia in Late Third Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Stefania Di Francesco

    2015-01-01

    Full Text Available Congenital hiatal hernia is a condition characterized by herniation of the abdominal organs, most commonly the stomach, through a physiological but overlax esophageal hiatus into the thoracic cavity. Prenatal diagnosis of this anomaly is unusual and only eight cases have been reported in the literature. In this paper we describe a case of congenital hiatal hernia that was suspected at ultrasound at 39 weeks’ gestation, on the basis of a cystic mass in the posterior mediastinum, juxtaposed to the vertebral body. Postnatal upper gastrointestinal tract series confirmed the prenatal diagnosis. Postnatal management was planned with no urgency. Hiatal hernia is not commonly considered in the differential diagnosis of fetal cystic chest anomalies. This rare case documents the importance of prenatal diagnosis of this anomaly for prenatal counseling and postnatal management.

  5. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

    Science.gov (United States)

    Hsu, L Y

    1989-01-01

    A total of 54 cases with prenatal diagnosis of 45,X/46,XY mosaicism was reviewed. Of 47 cases with information on phenotypic outcome, 42 cases (89.4 per cent) were reported to be associated with a grossly normal male phenotype. Three cases (6.4 per cent) were diagnosed as having mixed gonadal dysgenesis with internal asymmetrical gonads. Two other cases were questionably abnormal. In 40 cases with successful cytogenetic confirmatory studies, the overall rate of cytogenetic confirmation of 45,X/46,XY from tissues derived from fetus/liveborn/placenta was 70.0 per cent. This review shows a major difference in the phenotypic outcome between postnatal diagnosis and prenatal diagnosis. Due to the ascertainment bias, almost all known patients with postnatal diagnosis of 45,X/46,XY mosaicism are phenotypically abnormal. Therefore, caution must be used in translating information derived from postnatal diagnosis to prenatal diagnosis. This review calls for collection of more data on 45,X/46,XY mosaicism diagnosed prenatally, more long-term follow-up of liveborn infants, and pathological studies of all abortuses. Emphasis is placed also on the importance of genetic counselling, ultrasound examination, and cytogenetic confirmation.

  6. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  7. Sirenomelia: Case Report and Discussion of its Prenatal Diagnosis

    African Journals Online (AJOL)

    KEY WORDS: Diabetes mellitus, dysmorphic lower limb, prenatal diagnosis, sirenomelia ... get any routine investigation done. ... study. In view of a congenitally anomalous fetus, tocolysis was not given and ... associated genetic predisposition.

  8. Ultrasound Elastography in Breast Cancer Diagnosis

    DEFF Research Database (Denmark)

    Carlsen, J.; Ewertsen, C; Sletting, S

    2015-01-01

    Ultrasound elastography is an established method for characterization of focal lesions in the breast. Different techniques and analyses of the images may be used for the characterization. This article addresses the use of ultrasound elastography in breast cancer diagnosis. In the first part...

  9. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformations: Evolution and Outcome

    Directory of Open Access Journals (Sweden)

    Wei-Shiu Chen

    2009-09-01

    Conclusion: The outcomes of the prenatally detected CCAMs were good in our cases. If the CCAM is not complicated by hydrops fetalis, maintaining the pregnancy with continuing management seems to be a reasonable recommendation. Despite antenatal resolution of CCAM on ultrasound, postnatal examination with chest radiography and computed tomography scan is necessary.

  10. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    Science.gov (United States)

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  11. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  12. Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography.

    Science.gov (United States)

    Liang, R I; Huang, S E; Chang, F M

    1997-08-01

    We report here the earliest prenatal diagnosis to date of a case of ectopia cordis using both two-dimensional and three-dimensional ultrasound at 10 weeks of gestation. Both two-dimensional and three-dimensional ultrasound clearly revealed a thoracoabdominal ectopia cordis and an omphalocele. Histopathological examination confirmed the prenatal ultrasonic findings. In addition to an ectopia cordis, a supraumbilical hepato-omphalocele, absence of a pericardium and an anterior diaphragmatic defect were seen, although there was a normal sternum. These pathological findings, suggested that our case was a variant of pentalogy of Cantrell.

  13. 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.

  14. Prenatal diagnosis of open spina bifida in Emilia-Romagna.

    Science.gov (United States)

    Ghi, Tullio; Cocchi, Guido; Conti, Letizia; Pacella, Giuseppina; Youssef, Aly; Rizzo, Nicola; Pilu, Gianluigi

    2015-01-01

    To report recent data on the epidemiology of pregnancies affected by open spina bifida in the Emilia-Romagna region of Italy. All cases of open spina bifida diagnosed in the Emilia-Romagna region between 2001 and 2011 and reported to the IMER regional registry were included in the study group. The pregnancy outcome was retrospectively assessed. In the study period out of 390,978 babies born in Emilia-Romagna 126 cases of open spina bifida were reported to the IMER registry, resulting in a global prevalence of 3.2 per 10,000 births. Prenatal diagnosis was achieved in the vast majority of these cases (105/126; 83.3%) and in a great proportion of those women (85/105; 80.9%) who opted for termination of pregnancy. In a wide region of northern Italy where ultrasound anomaly scan is routinely offered to the general population, the vast majority of cases of open spina bifida are diagnosed antenatally and terminated electively. © 2015 S. Karger AG, Basel.

  15. Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes

    Science.gov (United States)

    Vora, Neeta; Bianchi, Diana W.

    2015-01-01

    Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. PMID:19609940

  16. review of chorionic villus sampling in prenatal diagnosis

    African Journals Online (AJOL)

    countries, chorionic villus sampling is the procedure of choice for prenatal diagnosis with the principal advantage over others, ... these technological advances and facilitated an easier diagnosis .... CVS is a surgical procedure with both surgical and laboratory ... easy by the combined effect of xylocaine infiltration and verbal.

  17. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    Science.gov (United States)

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies.

  18. Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up.

    Science.gov (United States)

    Katorza, Eldad; Pinhas-Hamiel, Orit; Mazkereth, Ram; Gilboa, Yinon; Achiron, Reuven

    2009-09-01

    Gender is determined by the genetic, gonadal and hormonal/ phenotypic sex. Genetic sex is determined at conception. The establishment of the gonadal sex (ovary/testis) and the phenotypic sex (external and internal genitalia) is a complicated multistep process which is determined during fetal life mainly during the first trimester. Recently more genes have been found to be involved in this process. Prenatal diagnosis of fetal gender can be made using ultrasound technology, genetic and hormonal examinations. Nowadays using a vaginal and abdominal transducer for US examination recognition of external and internal genitalia of both genders is possible. The determination of gender during fetal life is important not only as a matter of curiosity; in some cases of ambiguity (for example congenital adrenal hyperplasia) prenatal treatment can change the natural history of the disease. Prenatal diagnosis can also subtype the ambiguity, and its severity can be established. In this review we describe our experience in prenatal diagnosis and establishment of the fetal gender, the subtypes of ambiguity and our suggestion for the process of diagnostic work-up.

  19. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    Science.gov (United States)

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  20. Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.

    Science.gov (United States)

    Britto, Ingrid Schwach Werneck; Regina Silva Herbest, Sandra; Tedesco, Giselle Darahem; Drummond, Carolina Leite; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Ruano, Rodrigo; Ruano, Simone Hernandez; Aldrighi, José Mendes

    2014-01-01

    We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

  1. Prenatal Sex Selection and Missing Girls in China: Evidence from the Diffusion of Diagnostic Ultrasound

    Science.gov (United States)

    Chen, Yuyu; Li, Hongbin; Meng, Lingsheng

    2013-01-01

    How much of the increase in sex ratio (male to female) at birth since the early 1980s in China is attributed to increased prenatal sex selection? This question is addressed by exploiting the differential introduction of diagnostic ultrasound in the country during the 1980s, which significantly reduced the cost of prenatal sex selection. We…

  2. Prenatal Sex Selection and Missing Girls in China: Evidence from the Diffusion of Diagnostic Ultrasound

    Science.gov (United States)

    Chen, Yuyu; Li, Hongbin; Meng, Lingsheng

    2013-01-01

    How much of the increase in sex ratio (male to female) at birth since the early 1980s in China is attributed to increased prenatal sex selection? This question is addressed by exploiting the differential introduction of diagnostic ultrasound in the country during the 1980s, which significantly reduced the cost of prenatal sex selection. We…

  3. The clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, Lean; Faas, Brigitte H W; Feenstra, Ilse; van Vugt, John M G; Bekker, Mireille N

    OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high

  4. Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

    NARCIS (Netherlands)

    Beulen, L.; Faas, B.H.W.; Feenstra, I.; Vugt, J.M.G. van; Bekker, M.N.

    2017-01-01

    OBJECTIVE: To evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings. METHODS: This was a retrospective analysis of 251 singleton and multiple pregnancies at high risk for fetal

  5. Diagnostic Ultrasound in Gynecologic Diagnosis

    OpenAIRE

    Coates, C. F.

    1983-01-01

    Diagnostic ultrasound is helpful in the assessment of many common gynecological conditions from early teens to the late postmenopause. Female pelvic anatomy and pathology are readily imaged through a distended urinary bladder. In gynecologic cancer, examination of peritoneal cavity, kidneys and liver can suggest metastatic spread, which aids tumor staging.

  6. Prenatal diagnosis of cystic fibrosis: 10-years experience.

    Science.gov (United States)

    Hadj Fredj, S; Ouali, F; Siala, H; Bibi, A; Othmani, R; Dakhlaoui, B; Zouari, F; Messaoud, T

    2015-06-01

    We present in this study our 10years experience in prenatal diagnosis of cystic fibrosis performed in the Tunisian population. Based on family history, 40 Tunisian couples were selected for prenatal diagnosis. Fetal DNA was isolated from amniotic fluid collected by transabdominal amniocentesis or from chronic villi by transcervical chorionic villus sampling. The genetic analysis for cystic fibrosis mutations was performed by denaturant gradient gel electrophoresis and denaturing high-pressure liquid phase chromatography. We performed microsatellites analysis by capillary electrophoresis in order to verify the absence of maternal cell contamination. Thirteen fetuses were affected, 21 were heterozygous carriers and 15 were healthy with two normal alleles of CFTR gene. Ten couples opted for therapeutic abortion. The microsatellites genotyping showed the absence of contamination of the fetal DNA by maternal DNA in 93.75%. Our diagnostic strategy provides rapid and reliable prenatal diagnosis at risk families of cystic fibrosis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  8. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    Science.gov (United States)

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit.

  9. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    Science.gov (United States)

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  10. 产前超声检查在前置胎盘并胎盘植入诊断中的重要性评价%The Importance of Prenatal Ultrasound in Diagnosis of Placenta Previa Pla-centa Implantation and Evaluation

    Institute of Scientific and Technical Information of China (English)

    许崇惠

    2016-01-01

    Objective Evaluate the importance of prenatal ultrasound diagnosis of placenta previa and placenta implanta-tion. Methods Selected in our hospital in August 2013 to 2015 December 202 cases of placenta previa patients as the ob-ject of study, all patients were in production before the color Doppler ultrasound in the diagnosis of, review analysis the pa-tient's imaging characteristics, determine whether complicated with placenta accreta occurred and the pathology result as the basis, to calculate the accuracy of ultrasound in the diagnosis of. Results The 202 patients with placenta previa, by col-or Doppler ultrasound and pathology diagnosis of complicated with placenta accreta patients have 24 cases and 21 cases, detection rate was 11.4%and 10.4%respectively, no significant difference (P> 0.05), the ultrasound misdiagnosis in 3 cas-es, the total detection accuracy rate is 87.5%. Among them, placenta previa and placenta implantation in the anterior wall of the placenta and in the posterior wall of the placenta when diagnosis accurate rate is 94.12% (16 / 17) and 71.43% (5 / 7), placenta previa and placenta implantation in wall placenta diagnostic accuracy is significantly reduced, compared with sta-tistical difference (P0.05),经超声检查,误漏诊3例,总的检出准确率为87.5%。其中,前置胎盘并胎盘植入在前壁胎盘时和在后壁胎盘时的诊断准确率分别为94.12%(16/17)和71.43%(5/7),前置胎盘并胎盘植入在后壁胎盘时的诊断准确率显著降低,比较差异有统计学意义(P<0.05)。前置胎盘并胎盘植入在后壁胎盘时,出现3例产后大出血情况,并发症发生率为42.86%,前置胎盘并胎盘植入在后壁胎盘时,无一例并发症发生。结论产前超声诊断操作简便、重复性好、经济性好、准确率高,是比较理想的前置胎盘并前壁胎盘植入诊断方法。

  11. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Kucheria Kiran

    2002-01-01

    Full Text Available Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years. Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low

  12. Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

    Science.gov (United States)

    Hodgson, Jan; Pitt, Penelope; Metcalfe, Sylvia; Halliday, Jane; Menezes, Melody; Fisher, Jane; Hickerton, Chriselle; Petersen, Kerry; McClaren, Belinda

    2016-12-01

    Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  13. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

    Science.gov (United States)

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    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.

  14. 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.

  15. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Esther Perez-Carbajo

    2015-01-01

    Full Text Available Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.

  16. Value of Prenatal Ultrasound in the Diagnosis of Fetal Complete Atrioventricular Septal Defect%产前超声诊断胎儿完全性房室间隔缺损的价值

    Institute of Scientific and Technical Information of China (English)

    刘志红; 冷萍; 曾宪敏

    2012-01-01

    目的 探讨产前超声心动图诊断胎儿完全性房室间隔缺损(cAVSD)的临床价值.资料与方法 回顾性分析2006~2010产前超声诊断的21例cAVSD胎儿的超声资料,分析其与染色体异常的关系及胎儿的临床结局.结果 产前超声显示12例为单纯cAVSD,9例合并其他结构异常,即复合型cAVSD.12例单纯cAVSD胎儿中2例核型异常,9例复合型房室间隔缺损胎儿中6例核型异常.经产前咨询后,9例孕妇选择终止妊娠;12例胎儿中,4例宫内死亡,出生的8例胎儿中,2例未接受手术在新生儿期死亡;6例接受手术,4例存活均为单纯cAVSD.结论 胎儿cAVSD常合并其他结构畸形,且与染色体异常关系密切.复合型cAVSD结局较差,单纯型cAVSD结局相对较好,但围生期胎儿丢失率超过50%.%Purpose To investigate the diagnostic value of prenatal ultrasound in fetal complete atrioventricular septal defect (cAVSD). Materials and Methods The ultrasonic data of 21 cases of cAVSD diagnosed by prenatal ultrasound from 2006 to 2010 were retrospectively analyzed, and the relationship with chromosomal abnormality as well as fetal clinical outcomes were also explored. Results There were 12 sole cAVSD and 9 complicated with other malformations (complicated cAVSD). Fetal karyotype analysis: 2 with sole cAVSD had abnormal karyotype, and 6 out of the 9 complicated cAVSD had chromosomal abnormalities. Following prenatal counseling, 9 couples chose termination. Of the 12 continuing pregnancies, 4 were lost to follow-up. Of the 8 live births, 2 were neonatal deaths without surgery while 6 babies underwent surgery and 4 had survived to date. All the survivors were sole cAVSD. Conclusion cAVSD is associated with chromosomal and other abnormalities. The outcome of complicated cAVSD is poor, and the outcome of sole cAVSD is better. But the survivors don't reach half of the sole cAVSD.

  17. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.

    Science.gov (United States)

    Lai, S; Lau, W L; Leung, W C; Lai, F K; Chin, R

    2010-11-01

    To evaluate ultrasound scan and other prenatal screening tests for trisomy 18 in a regional obstetric unit and to review the management approach for women with positive trisomy 18 screening results. Prenatal diagnosis databases were accessed to identify fetuses that had confirmed trisomy 18 karyotypes or were at high risk for trisomy 18 on second-trimester biochemical screening or first-trimester combined screening tests over a period of 10 years from 1 September 1997 to 30 September 2007. Sixty-nine women were confirmed to have trisomy 18 fetuses by karyotyping either prenatally (n = 61) or postnatally/post-miscarriage (n = 8) during the study period. The detection rate of ultrasound scan ≤ 14 weeks and 18 to 21 weeks to detect trisomy 18 was 92.7 and 100%, respectively. A total of 80 and 87% of fetuses had two or more ultrasound abnormalities detected in the ≤ 14 weeks and 18 to 21 weeks anomaly scans, respectively. Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP). Only one was true positive (positive predictive value = 1/48 or 2%). Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks. Three were true positive (positive predictive value = 3/11 or 27%). All four cases with positive screening had ultrasound abnormalities. Ultrasound scan for fetal anomalies is the most effective screening test for trisomy 18. A policy of conservative management for women with positive second-trimester biochemical screening or first-trimester combined screening for trisomy 18 is reasonable in the absence of ultrasound fetal abnormalities. Unnecessary invasive tests can be avoided.

  18. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.

    Directory of Open Access Journals (Sweden)

    Shan Dan

    Full Text Available Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia.Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples.Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential to be used to facilitate the prenatal diagnosis

  19. Challenges in the prenatal and post-natal diagnosis of mediastinal cystic hygroma: a case report

    Directory of Open Access Journals (Sweden)

    Nazir Sarfraz

    2008-08-01

    Full Text Available Abstract Introduction Cystic hygroma is a benign congenital neoplasm that mostly presents as a soft-tissue mass in the posterior triangle of the neck. Pure mediastinal lesions are uncommon; the vast majority are asymptomatic and are an incidental finding in adulthood. The diagnosis is often made intra- or postoperatively. Prenatal identification is exceptional and post-natal diagnosis also proves challenging. Case presentation We report one such case that was mistaken for other entities in both the prenatal and immediate post-natal period. Initial and follow-up antenatal ultrasound scans demonstrated a multicystic lesion in the left chest, and the mother was counselled about the possibility of her baby having a congenital diaphragmatic hernia. Initial post-natal chest radiographs were reported as normal. An echocardiogram and thoracic computed tomography scan confirmed a complex multiloculated cystic mediastinal mass. The working diagnoses were of a mediastinal teratoma or congenital cystic adenomatous malformation. At operation, the lesion was compressed by the left lung and was found to be close to the left phrenic nerve, which was carefully identified and preserved. After excision, histopathological examination of the mass confirmed the diagnosis of cystic hygroma. Postoperative dyspnoea was observed secondary to paradoxical movement of the left hemidiaphragm and probable left phrenic neuropraxia. This settled conservatively with excellent recovery. Conclusion Despite the fact that isolated intrathoracic cystic hygroma is a rare entity, it needs to be considered in the differential diagnosis of foetal and neonatal mediastinal masses, particularly for juxtadiaphragmatic lesions. The phrenic nerve is not identifiable on prenatal ultrasound imaging, and it is therefore understandable that a mass close to the diaphragm may be mistaken for a congenital diaphragmatic hernia because of the location, morphology and potential phrenic nerve compression

  20. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    Science.gov (United States)

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  1. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    DEFF Research Database (Denmark)

    Winding, Louise; Loane, Maria; Wellesley, Diana;

    2014-01-01

    OBJECTIVES: The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). METHODS: The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997...

  2. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  3. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis

  4. Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

    NARCIS (Netherlands)

    Winding, Louise; Loane, Maria; Wellesley, Diana; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian K.; Bianchi, Fabrizio; Calzolari, Elisa; Gatt, Miriam; Haeusler, Martin; Lelong, Nathalie; Mullaney, Carmel; Scarano, Gioacchino; Tucker, David; Wiesel, Awi; Garne, Ester

    2014-01-01

    ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and

  5. FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES

    NARCIS (Netherlands)

    CHRISTIAENS, GCML; Oosterwijk, JC; STIGTER, RH; DEUTZTERLOUW, PP; KNEPPERS, ALJ; BAKKER, E

    1994-01-01

    Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis con

  6. Prenatal Depression: Best Practice Guidelines for Diagnosis and Treatment

    Science.gov (United States)

    Choate, Laura H.; Gintner, Gary G.

    2011-01-01

    The purpose of this article is to provide counselors with an overview of best practices for the treatment of women who experience prenatal depression (PND). The authors first discuss issues in the screening and diagnosis of PND. Next, the 2 most common treatments, antidepressants and psychotherapy, are reviewed and discussed in relation to current…

  7. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  8. Mosaicism and uniparental disomy in prenatal diagnosis.

    Science.gov (United States)

    Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter

    2015-02-01

    Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing.

  9. Prenatal diagnosis of a de novo inversion of chromosome (2)(p21q11).

    Science.gov (United States)

    Hengstschläger, M; Mittermayer, C; Prusa, A R; Drahonsky, R; Repa, C; Deutinger, J; Bernaschek, G

    2003-08-01

    Prenatal diagnosis of "apparently balanced" chromosomal rearrangements, if not inherited from a parent, are problematic for genetic counsellors and families. Although the parents need to be informed about the increased risk of multiple congenital anomalies, the anomalies that the fetus is at risk can not be discussed unless a similar breakpoint and accompanying phenotype have been reported in the literature. In the reported case prenatal ultrasound examination revealed a massive hydrocephalus internus and IUGR. The karyotype of the fetus was inv(2)(p21q11) de novo. Postmortem examination revealed short palpebral fissures, hypertelorism, atypical nasiolabial configuration, microgenia, extended position of the fingers, atypical proximal inserted first toe, hydrocephalus internus, hypoplasia of the cerebellum and bulbi olfactorii, bilateral hypoplastic lungs, atrial septal defect II, small right ventricle, dysplasia of the pulmonary valve, hypoplastic pulmonary artery, right proximal ureterostenosis, hypoplastic gall bladder. This is the first description of a de novo inversion (2)(p21q11) in a fetus with multiple malformations.

  10. Prenatal ultrasound in diagnosis of fetal facial profile and associated genetic disorders%产前超声评估胎儿颜面轮廓及相关遗传学疾病

    Institute of Scientific and Technical Information of China (English)

    欧阳云淑; 孟华; 姜玉新; 戴晴; 张一休; 钟定荣; 赵大春; 刘欣燕

    2012-01-01

    目的 探讨产前超声评估胎儿颜面轮廓的可行性及对胎儿遗传学疾病的提示价值.方法 应用产前二维及三维超声观察20胎胎儿的颜面正中矢状面,评估颜面轮廓异常,并与染色体分析结果进行对照.结果 发现9胎21-三体、4胎18-三体、1胎13-三体和1胎4p-,5胎染色体正常.20胎中,鼻骨缺失或发育不良共8胎(6胎21-三体,2胎染色体正常);鼻前组织增厚9胎(8胎21-三体,1胎4p-);小下颌8胎(4胎18-三体,1胎21-三体,1胎13-三体,1胎4p-及1胎染色体正常);颜面扁平5胎(2胎21-三体,2胎Larsen综合征,1胎染色体正常);上颌前突2胎(1胎13-三体,1胎18-三体).结论 颜面正中矢状面有助于提示胎儿染色体异常及遗传综合征,其中鼻骨及下颌评估对21-三体及18-三体的提示意义明确,可作为中孕期筛查的常规内容.%Objective evaluate fetal facial profile with prenatal ultrasound, and to determine its diagnostic value for genetic disorders. Methods Sonographic findings of 20 fetuses were reviewed. Facial midsagittal plane was carefully evaluated with two-dimensional and three-dimensional ultrasound, and all fetuses underwent chromosomal analysis. Results There were 9 fetuses of trisomy 21, 4 of trisomy 18, 1 of trisomy 13 and 1 of 4p- , the remaining fetuses had normal kary-otype. Eight fetuses had absent or hypoplastic nasal bones, including 6 of trisomy 21 and 2 of normal karyotype. Nine fetuses showed increasing prenasal thickness, including 8 of trisomy 21 and 1 of 4p-. Eight fetuses had micrognathia, including 4 of trisomy 18, 1 of trisomy 21, 1 of trisomy 13, 1 of 4p- and 1 of normal karyotype. Five fetuses showed flat face, two of which were trisomy 21, another two were Larsen syndrome, and the remaining 1 showed normal karyotype. Two fetuses had premaxillary protrusion, proved to be trisomy 13 and trisomy 18. Conclusion Facial midsagittal plane may contribute to prenatal detection of genetic disorders and need

  11. 血清学筛查与胎儿超声检查在18、13三体综合征产前诊断中的应用%Serologic Screening with Fetal Ultrasound Screening in the Prenatal Diagnosis of Edwards Syndrome and Patau Syndrome

    Institute of Scientific and Technical Information of China (English)

    钟萍; 林毅; 田葆东

    2011-01-01

    Objective;To explore the efficacy of serologic screening with fetal ultrasound screening in the prenatal diagnosis of edwards syndrome and patau syndrome. Methods:①78 pregnant women with high-risk of edwards syndrome or patau syndrome by prenatal serological screening who refused to make prenatal diagnosis were followed up (Group A).②56 pregnant women with abnormal fetal ultrasound findings (Group B) and, 134 pregnant women with high risk of edwards syndrome/ patau syndrome by prenatal serological screening (Group C) were underwent chromosome analysis after amniocentesis or puncture of umbilical cord from 18 to 32 weeks. Results;In high risk of 18 trisomy by serological screening, 2 cases with abnormal ultrasound findings terminated the pregnancy, 1 newborn had congenital heart disease after birth in group A. In group B, 3 cases were with 18 trisomy, 3 cases were with 13 trisomy and 7 cases were with the other chromosome abnormality. The incidence of abnormal findings was 23 .21 % (13/56) .Among them, 2 cases with 18 trisomy complicated with high risk of serological screening. In group C, 4 cases were with fetal abnormality, among them 2 cases were conformed diagnosed as 18 trisomy. The incidence of abnormality was2.99%(4/134).Conclusions:It is an effective method to detect 18, 13 trisomy by serum biochemical indicators screening in gravida and fetal ultrasound examination.%目的:探讨利用孕妇血清学筛查和胎儿超声检查进行18、13三体综合征胎儿产前诊断的有效性.方法:①对78例(A组)产前血清学筛查18、13三体高风险孕妇,拒绝进行产前诊断的孕妇进行随访观察.②对56例(B组)首诊主诉胎儿超声检查有结构异常的孕妇、134例(C组)首诊主诉为产前血清学筛查胎儿18三体高风险的孕妇,于孕18 ~32周行羊膜腔穿刺羊水细胞培养,或脐血管穿刺脐血细胞培养染色体分析.结果:A组的18三体筛查高风险孕妇有2例出现B超检

  12. [Ultrasound diagnosis of the meniscus].

    Science.gov (United States)

    Casser, H R

    2002-03-01

    As a supplement to clinical findings, sonographic examination of the meniscus is an easily available, noninvasive imaging technique that can be used to optimize preoperative diagnosis and check the indication for arthroscopy. Careful consideration of the technical requirements and systematic performance of the dynamic examination should lead to further improvement of the examination results and to growing clinical significance in the future.

  13. Diagnosis of perforated gastric ulcers by ultrasound.

    Science.gov (United States)

    Wallstabe, L; Veitt, R; Körner, T

    2002-10-01

    Patients with a perforation of the gastrointestinal tract need fast confirmation of diagnosis and early treatment to improve outcome. Plain abdominal x-ray does not always prove the perforation particularly at early stage. We report about a 62 year-old woman complaining of consistent abdominal pain with sudden onset. Ultrasound was taken as first diagnostic measure, revealing a perforation. The leakage was located in the stomach. Radiography confirmed the pneumoperitoneum without indicating the perforated location. During operation the perforated gastric ulcer was found and sutured. This case report points out the reliability of ultrasound in diagnosing a pneumoperitoneum. Additionally it provides a summary of ultrasound signs seen in perforated gastric and duodenal ulcers and a review of literature.

  14. Prenatal sonographic diagnosis of Aarskog syndrome.

    Science.gov (United States)

    Sepulveda, W; Dezerega, V; Horvath, E; Aracena, M

    1999-10-01

    In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

  15. Prenatal diagnosis of Werdnig-Hoffmann disease in China

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Objective To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.Results The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.Conclusion This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

  16. Ultrasound diagnosis of adrenal hemorrhage in meningococcemia

    Energy Technology Data Exchange (ETDEWEB)

    Sarnaik, A.P.; Sanfilippo, D.J.K.; Slovis, T.L.

    1988-07-01

    Adrenal hemorrhage (AH) is a well-described complication of the neonatal period, anticoagulant therapy, and overwhelming bacterial infection especially with N. meningitis. Until recently the diagnosis of acute AH was based predominantly on autopsy findings. Ultrasound and computed tomography examinations have been successfully used for antemortem detection of AH in neonates and anticoagulated patients. We report two patients with fulminant meningococcal infection who demonstrated bilateral adrenal hemorrhages on ultrasonography.

  17. Prenatal diagnosis of horseshoe lung: contribution of MRI

    Energy Technology Data Exchange (ETDEWEB)

    Tilea, Bogdana; Garel, Catherine; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Delezoide, Anne-Lise [Hopital Robert Debre, Department of Developmental Biology, Paris (France); Vuillard, Edith; Oury, Jean-Francois [Hopital Robert Debre, Department of Obstetrics and Gynaecology, Paris (France); Azancot, Annabelle [Hopital Robert Debre, Department of Fetal Cardiology, Paris (France)

    2005-10-01

    Horseshoe lung is a very rare pulmonary anomaly that is characterized by an isthmus of lung parenchyma bridging the right and left lungs and extending through the mediastinum. We report on the prenatal diagnosis of such a malformation in a 33-week-gestation fetus. The diagnosis was initially suspected on antenatal ultrasonography performed at 33 weeks and confirmed by fetal MRI and subsequent pathological examination after termination of pregnancy. To our knowledge, this is the first reported case of antenatal diagnosis of horseshoe lung. (orig.)

  18. Absence of prenatal ultrasound surveillance: Data from the Portuguese congenital anomalies registry.

    Science.gov (United States)

    Correia, Sandrina; Machado, Ausenda; Braz, Paula; Rodrigues, Ana Paula; Matias-Dias, Carlos

    2016-06-01

    In Portugal, prenatal care guidelines advocate two prenatal ultrasound scans for all pregnant women. Not following this recommendation is considered inadequate prenatal surveillance. The National Registry of Congenital Anomalies (RENAC in Portuguese) is an active population-based registry and an important instrument for the epidemiological surveillance of congenital anomalies (CA) in Portugal. Regarding pregnancies with CA, this study aims to describe the epidemiology of absent prenatal ultrasound scans and factors associated with this inadequate surveillance. A cross-sectional comparative study from 2008 to 2013 was carried out using data from RENAC. Associations of nonuptake of prenatal ultrasound screening with socio-demographic health behaviors and obstetric history data were evaluated using multiple logistic regression. Potential confounders were investigated and included if they changed the crude odds ratio estimate by at least 10% after adjustment by the Mantel-Haenszel method. The statistical significance level was set at 5%. Overall, 6090 notifications of congenital anomalies were reported to RENAC, and 2% of the pregnant women reported no prenatal ultrasound screening surveillance. These women were on average aged 30.0 years, and 52.8% had no professional occupation. The odds of not performing an ultrasound scan during their pregnancy increased 2.47 times with lack of professional activity, 4.67 times in non-Caucasian women, and decreased 46% for any previous miscarriage. For pregnant women who did not receive an ultrasound screening examination during pregnancy, the strongest statistically associated factors were professional occupation, ethnicity, and number of miscarriages in previous gestations. Birth Defects Research (Part A) 106:489-493, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. The prognostic factors in the prenatal diagnosis of the echogenic fetal lung.

    Science.gov (United States)

    Barret, J; Chitayat, D; Sermer, M; Amankwah, K; Morrow, R; Toi, A; Ryan, G

    1995-09-01

    The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.

  20. Clinical Value of Ultrasound on the Prenatal Diagnosis of Fetal Malformation in Middle and Late Pregnancy%为孕妇进行中晚孕期胎儿畸形筛查的临床意义

    Institute of Scientific and Technical Information of China (English)

    尤艳

    2015-01-01

    Objective: To analyze the value of ultrasound technology on the diagnosis of the fetal malformation for women at the middle and late pregnancy. Methods: 800 cases who were diagnosed by ultrasound in early pregnancy in our hospital from June 2010 to June 2014 were chosen. Subsequent ultrasounds were performed in middle pregnancy (from 20~24 weeks) and late pregnancy (from 29~32 weeks) separately, in which the diagnosis and misdiagnosis rate were calculated. Results: 14 fetal malformation cases were detected, the rate of detection was 1.75% . 11 cases were detected in middle pregnancy. 3 cases were misdiagnosed in middle pregnancy. Conclusion: Ultrasonography has great value in diagnosing fetal malformation, it has high detect value. However, some deformities do not appear obviously in middle pregnancy,we should pay more attention to fetal face,head and heart in late pregnancy in order to decrease missed diagnosis.%目的:分析为孕妇进行中晚孕期胎儿畸形筛查的临床意义。方法:将2010年6月至2014年6月我院收治的800例在早孕期(孕龄10~12周)经彩色多普勒超声检查证实胎儿正常的孕妇作为研究对象,分别在其中孕期(孕龄20~24周)、晚孕期(孕龄29~32周)再次为其进行彩色多普勒超声胎儿畸形筛查,并分析其胎儿畸形的检出率及漏诊率。结果:在本组800例孕妇中,有14例孕妇被检出胎儿畸形,检出率为1.75%(14/800),其中有11例中孕期胎儿,有3例晚孕期胎儿。在本组孕妇中,有3例孕妇的中孕期畸形胎儿被漏诊,漏诊率为21.43%。结论:进行彩色多普勒超声检查是诊断胎儿先天性发育畸形的重要方法。部分胎儿畸形在进行中孕期超声检查时表现不典型。在为孕妇进行晚孕期超声检查时应注意对其胎儿的颜面部、胸部、四肢等部位进行扫描,以提高胎儿畸形的检出率,降低其漏诊率。

  1. Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

    Science.gov (United States)

    Halley, D; Heukels-Dully, M J

    1977-01-01

    Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syndrome. Images PMID:856956

  2. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-03-01

    Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.

  3. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-04-01

    Conclusion: Fetuses with 15q14 microdeletion may present TOF on the second-trimester ultrasound. aCGH and metaphase FISH are useful for rapid prenatal diagnosis of 15q14 microdeletion associated with TOF. A prenatal diagnosis of TOF should include a differential diagnosis of 15q14 microdeletion in addition to 22q11.2 deletion syndrome and other microdeletion syndromes.

  4. FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Antonio Francesco Corno

    2015-02-01

    Full Text Available Within the last few decades the pre-natal echocardiographic diagnosis of congenital heart defects has made substantial progresses, particularly for the identification of complex malformation. Functionally univentricular hearts categorize a huge variety of heart malformations. Since no one of the patients with these congenital heart defects can ever undergo a bi-ventricular type of repair, early recognition and decision-making from the neonatal period are required in order to allow for appropriate multiple-step diagnostic and treatment procedures, either of interventional cardiology and/or surgery, on the pathway of univentricular heart. In the literature strong disagreements exist about the potential impact of the pre-natal diagnosis on the early and late outcomes of complex congenital heart defects. This review of the recent reports has been undertaken to better understand the impact of pre-natal diagnosis in functionally univentricular hearts taking into consideration the following topics:•pre-natal screening•outcomes and survival•general morbidity•neurologic and developmental consequences•pregnancy management and delivery planning•resources utilization and costs/benefits issues•ethical implications, parents counseling, interruption of pregnancy versus treatment

  5. Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Neerja Gupta

    2013-01-01

    Full Text Available Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

  6. 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.

  7. 产前超声诊断胎儿肺部异常及预后评估%Prenatal Diagnosis of Fetal Congenital Disease of Lung and Clinical Prognosis by Ultrasound

    Institute of Scientific and Technical Information of China (English)

    陆冰; 姜小力; 殷林亮; 邓学东

    2015-01-01

    Objective To describe the antenatalfi ndings and outcome of fetuses with congenital lung disease. MethodsA total of 147 cases of fetal congenital disease of lung were diagnosed and the data was retrospectively analyzed.Results 1. Among the 147 fetuses of congenital lung disease, there were 89 lung lesion; 59 cases of pleural effusion (PE), 4 case of echogenic lung; 1 case of pulmonary hypopasia with ribs malformation and 1 case of pulmonary agenesis (PA); 2. 49 patients with other pulmonary abnormalities, including: fetal edema, lymph hydroma, congenital heart malformation, skeletal deformities, hepatic cyst, heart shift, Bilateral hydronephrosis, single umbilical artery and amnioticfl uid; 3. Fetal outcome: a total of 97 cases of fetus performed induced abortion, 10 cases of disease spontaneous regression before labor, 40 cases of lesions persist and choose to continue pregnancy.ConclusionPrenatal ultrasonography has a high accuracy rate for the diagnosis and classification of fetal congenital lung disease. For different types of pulmonary lesions need to be carefully identifi ed. With detailed observation of the fetus and prenatal follow-up, ultrasonography is helpful to predict the clinical outcome of the fetus.%目的:探讨胎儿肺部异常的产前超声特征及评估临床预后价值。方法对147例产前超声诊断有胎儿肺部异常的胎儿声像图进行回顾性分析。结果①147例肺部异常的胎儿中产前检出89例团块样病变;检出胸腔积液共59例,检出4例肺回声弥漫性增强;1例肺发育不良伴有肋骨畸形;1例肺缺如。②49例伴发其他肺部异常,包括:胎儿水肿、淋巴水囊瘤、心脏畸形、骨骼畸形、肝囊肿、心脏移位、双肾积水、单脐动脉、羊水过多;③胎儿临床结局:147例共有97例胎儿选择引产,10例病变产前自行消退,40例病灶持续存在并选择继续妊娠。结论对于肺部病灶的不同类型诊断需要谨慎鉴别,

  8. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Guguloth, Ashwitha [Dept. of Radiology, Bangalore Medical College and Research Institute, Bangalore (India); Aswani, Yashant; Anandpara, Karan Manoj [Dept. of Radiology, Seth G S Medical College and KEM Hospital, Mumbai (India)

    2016-01-15

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.

  9. Natural history of fetal trisomy 13 after prenatal diagnosis.

    Science.gov (United States)

    Barry, Sinead C; Walsh, Colin A; Burke, Annette L; McParland, Peter; McAuliffe, Fionnuala M; Morrison, John J

    2015-01-01

    There are currently limited data describing the natural history and outcome for fetal trisomy 13 diagnosed prenatally. The aim of this study was to evaluate the fetal and neonatal outcome for pregnancies with an established prenatal diagnosis of fetal trisomy 13, and a parental decision for continuation of the pregnancy. To this end, the obstetric and neonatal outcome data for such pregnancies, diagnosed at two referral Fetal Medicine Centers, were retrospectively obtained and examined. During the study period, there were 45 cases of trisomy 13 diagnosed at both units, of which 26 (56%) continued with the pregnancy to its natural outcome. There were 12 intrauterine deaths in the cohort resulting in a rate of 46.2% of intrauterine lethality. Conversely, the live birth rate was 53.8%. For infants born alive, neonatal death on day 1 of life occurred in 78.6% of cases. The overall early neonatal mortality rate was 93%. There was one infant death at 6 weeks of age and no survival noted beyond this period. These data provide reliable information for parental counseling pertaining to risk of intrauterine death when trisomy 13 is diagnosed prenatally. These data also indicate that the survival outcome is worse than that previously accepted from studies of postnatal follow up of live born infants with this diagnosis.

  10. 产前超声监测对双胎妊娠并发症的诊断及治疗选择的价值%The Value of Prenatal Ultrasound Monitoring in the Diagnosis and Management of Twins Pregnancy Complications

    Institute of Scientific and Technical Information of China (English)

    刘新秀; 辜秋阳; 庄勇; 陈玲; 陈晓宇; 甘玲; 许翔; 叶真

    2014-01-01

    目的:探讨双胎妊娠的产前超声监测方法对双胎并发症的诊断及治疗选择的价值。方法回顾性分析81例双胎妊娠孕妇的临床资料和超声监测方法,综合评估是否出现双胎输血综合征(TTTS)、选择性胎儿生长受限(sIUGR)等单绒毛膜双胎(MC双胎)特有的并发症,进行相应分期、分型和监测;随访至妊娠终止。结果81例双胎妊娠中双绒毛膜双羊膜囊双胎(DCDA )40例出现双胎之一宫内死亡1例,双胎生长不一致1例;38例单绒毛膜双羊膜囊双胎(MCDA)出现TTTS 4例,sIUGR 2例,双胎之一唇腭裂畸形1例,双胎之一宫内死亡1例;3例单绒毛膜单羊膜囊双胎(MCMA)并发双胎之一无心畸形1例,联体双胎1例。DCDA并发症明显小于MC双胎并发症(P<0.05)。DCDA双胎丢失率1/80(胎),MC双胎丢失率11/82(胎)。DCDA胎儿丢失率明显低于MC双胎胎儿丢失率( P<0.05)。产前超声监测与终止妊娠结果100%符合。结论早孕期诊断双胎妊娠的绒毛膜性具有重要的临床意义;对<26孕周的 MC双胎每2周监测1次,可早期诊断并发症;对≥26孕周的 TTTS及sIUGR在超声严密监测下选择分娩时机,可提高MC双胎围生儿生存率。%Objective To explore the value of prenatal ultrasound monitoring in the diagnosis and the treatment of the twin pregnancy complications . Methods The clinical data and ultrasound follow up medical files of 81 pregnant women with twin pregnancies were retrospectively analyzed during the study period (March 2011~ April 2014) . Twin to twin transfusion syndrome (TTTS) and selective intra-uterine growth restriction(sIUGR) and other complications were comprehensively assessed ,classified and moni-tored . All the cases were followed-up until pregnancy has been terminated . Results Among 81 cases of twins pregnancy ,forty cases were dichorionic-diamniotic twins pregnancies (DCDA) in which

  11. Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.

    Science.gov (United States)

    Sepulveda, Waldo; Wong, Amy E; Sepulveda, Francisco; Alcalde, Juan L; Devoto, Juan C; Otayza, Felipe

    2017-07-01

    Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

  12. FISH of uncultured amniocytes for prenatal diagnosis: Experience in 24 cases using commercially available probes

    Energy Technology Data Exchange (ETDEWEB)

    Weremowicz, S.; Sandstrom, M.McH.; Walsh, K.A. [Harvard Medical School, Boston, MA (United States)] [and others

    1994-09-01

    Rapid prenatal diagnosis of chromosomal aneuploidies is being requested increasingly by physicians at our institution. We report our experience in providing rapid diagnoses in prenatal samples referred following an abnormal ultrasound examination (n=22) and for confirmation of trisomy 21 prior to selective termination in a twin gestation (n=22). Uncultured amniocytes (46,XY) and cultured lymphocytes (46,SY) were used as control cells and a DXZ1 probe was hybridized separately from the test probes as a control probe. In 23 cases our FISH interpretation was concordant with the cytogenetic analysis. In one case referred to rule out trisomy 21 in which cystic hygroma was detected on ultrasound exam in a 35 y.o. G2 P1, a FISH interpretation of disomy 21 was based on 18% of cells with 1 signal, 65% with 2, 15% with 3, and 2% with 4; the large percentage of 3 signals was also reported. Cytogenetic analysis was 47,XX,+21 in 63 metaphases. Subsequent FISH analysis of metaphases revealed a large number of chromosomes 21 with only one site of hybridization that might have contributed to the discordant interpretation. Whether this result reflects population polymorphism in hybridization of this cosmid remains to be elucidated. Our findings confirm use of FISH as an invaluable adjunct to conventional cytogenetics; however, results must be interpreted cautiously until larger numbers of cases have been analyzed to detect potentially rare events.

  13. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    Science.gov (United States)

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

  14. Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2016-10-01

    Full Text Available The cytogenetic diagnosis of trisomy 13th is infrequent. It may present as a free trisomy, translocation or in combination of both. Due to the need of counting on reports of this genetic disturbance, a case Patau´s syndrome is presented, detected by prenatal cytogenic and ultrasonographic diagnosis, in a 19 year-old pregnant woman with positive findings in ultrasound (increased nuchal translucency, prominence of facial mass and asymmetry of the four cardiac cavities. It was confirmed by specialists of the Provincial Center of medical genetic of Cienfuegos. It was proposed to perform a cytogenetic prenatal diagnosis which resulted in a female fetus with free trisomy of chromosome 13 (47, XX, +13. The woman was informed and it was decided to interrupt her pregnancy. The report of Pathologic anatomy informed of an orifice in the upper lip which continued to the upper part of the mouth due to the absence of hard palate (Cleft lip accompanied by cleft palate, polydactyly in the left hand (six fingers Congenital cardiopathy due to reduced aortic diameter and dextroposed, hypoplasia in the left cavities, basal media Intraventicular communicación with wide ductus and permeable, so as prominence in the facial mass.

  15. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...... in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15. Copyright (C) 2009 S. Karger AG, Basel....

  16. Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice.

    Science.gov (United States)

    Klugman, Susan; Suskin, Barrie; Spencer, Brianna L; Dar, Pe'er; Bajaj, Komal; Powers, Judith; Reichling, Julie; Wasserman, David; Dolan, Siobhan M; Merkatz, Irwin R

    2014-09-01

    We studied the clinical utility of chromosomal microarray analysis (CMA) in prenatal diagnosis in a clinical setting in New York City. Our center began offering CMA to pregnant women undergoing invasive diagnostic procedures for an abnormal structural finding on ultrasound, maternal age of 35 years or older, or elevated risk on aneuploidy screening, beginning March 2012. Our first six months experience is reported. Benign familial variants were the most common finding (16/22 fetuses). Variants of uncertain significance were frequent, especially when fathers were not available for testing (4/22 fetuses). Most patients undertook CMA as part of evaluation of an ultrasound anomaly (52%). One patient terminated a pregnancy based on an ultrasound finding in the setting of a benign familial variant on CMA, and a second terminated a pregnancy based on a copy number variant identified on CMA. For CMA to be maximally useful in prenatal diagnosis, parental DNA samples as well as robust datasets to provide predictive phenotypic information are required. The most common reason for undertaking CMA was to evaluate an ultrasound anomaly, and benign familial variants were a common finding. Genetic services are required to provide pre- and post-test genetic counseling and help families interpret results.

  17. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome.

    Science.gov (United States)

    Dave, Usha; Shetty, Dhanlaxmi

    2014-02-01

    Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

  18. 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.

  19. Prenatal Diagnosis of Dextrotransposition of the Great Arteries

    Directory of Open Access Journals (Sweden)

    Jeng-Hsiu Hung

    2008-10-01

    Full Text Available Dextrotransposition of the great arteries (DTGA is a common cardiac cause of cyanosis in newborn infants that can cause acidosis and death within a short period of time unless there is a large atrial-level shunt or a patent ductus arteriosus. Here, we report a case of prenatal diagnosis of DTGA at 24+1 gestational weeks. In a tilted 4-chamber view, the pulmonary trunk branched to the left and the right pulmonary, with its root connected to the left ventricle outflow tract. In the short-axis view, the pulmonary trunk was shown to be parallel with the ascending aortic root. Cesarean section was performed due to the nonreassuring fetal status at 38+5 gestational weeks. The male neonate appeared to have mild cyanotic symptoms and weighed 3,108 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neonatal echocardiography was performed immediately after birth and the findings confirmed DTGA associated with atrial septal defect secundum. Postnatally, angiography confirmed the echocardiographic diagnosis of DTGA with a large atrial septal defect secundum and a large patent ductus arteriosus. Jatene arterial switch operation and atrial septal defect closure with Gore-Tex patch were performed. The neonate withstood the operation well and was discharged 27 days after birth weighing 2,950 g and in a stable condition. Prenatal diagnosis of DTGA can greatly aid to prepare the patient's family and the surgeon and significantly improve the outcome of complex heart disease in the neonatal period.

  20. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  1. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  2. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

    Science.gov (United States)

    Jaquier, M; Klein, A; Boltshauser, E

    2006-08-01

    Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (anencephaly is medically safe and should be considered as an option.

  3. Sacrococcygeal teratoma: Case report, from prenatal diagnosis to resection and primary reconstruction

    Directory of Open Access Journals (Sweden)

    Paulina Menchaca S.

    2013-04-01

    Full Text Available INTRODUCTION: Sacrococcygeal teratoma (SCT is an uncommon pediatric condition (1 case per 27,000 live births, nevertheless, it is the most frequent neoplasia diagnosed at fetal age. Higher access to obstetric ultrasound allows prenatal diagnosis, appropriate planning, study and multidisciplinary treatment of these patients. CASE REPORT: In a routine obstetric evaluation, patient presented a heterogeneous, cystic mass in the sacrococcygeal region. A SCT was suspected, and an elective cesarean delivery was planned to term gestational age. The patient was delivered without complications, with a 15 cm sacrococcygeal mass. Imaging revealed an Altman II SCT, and serum tumor markers were measured. By the ninth day of life, surgery was performed with tumor and coccyx complete resection, pelvic floor reconstruction and primary closure. Postoperatively, the patient made a good recovery without digestive or neurological complications. The biopsy revealed a mature teratoma with minor immature neuroepithelial foci, without atypical cells. DISCUSSION: The prenatal diagnosis in SCT allows appropriate counseling of parents, derivation to specialized centers, and could identify high-risk patients for early interruption of gestation, taking into account a mortality rate as high as 16%. Preoperative classification is important for both treatment and prognosis. There is not enough evidence to recommend chemotherapy for the treatment of mature or immature benign teratomas. In this case, close long-term follow-up will be important to rule out recurrence, and urinary and fecal incontinence.

  4. Prenatal diagnosis of abnormal umbilical cord insertion: a rare case of furcate insertion.

    Science.gov (United States)

    Fujita, Yasuyuki; Yumoto, Yasuo; Kato, Kiyoko

    2017-04-01

    Furcate insertion (FI) is an extremely rare abnormality of umbilical cord insertion. One of the complications associated with FI is hemorrhage from the umbilical vein at the site of FI of the umbilical cord, which can cause sudden intrauterine fetal death. Because of its rarity, no prenatal diagnosis of FI has been reported. A 31-year-old woman at 34 weeks' gestation was referred to us for suspected abnormal cord insertion. Ultrasonography showed normal fetal growth and amniotic fluid volume, with no fetal anomalies. Although the umbilical cord contained three vessels inserted at the center of the placenta, the umbilical vessels separated from the cord substance before their insertion to the placenta. Based on these findings, the patient was diagnosed with FI. During labor at 37 weeks' gestation, fetal heart rate was normal and a healthy neonate was delivered. At macroscopic examination, the umbilical cord was inserted in the middle of the placenta, and the placental parenchymal tissue just under the cord insertion was deficient and had been changed to white, elastic hard tissue. Pathological examination of the white tissue revealed fibrin deposition and focal infarction. Although FI is a very rare condition, prenatal diagnosis can be achieved through detailed color Doppler ultrasound studies. Therefore, taking precautions and keeping in mind the poor fetal outcome associated with FI are preferred.

  5. 产前超声联合磁共振成像在单纯性腹股沟斜疝临床诊断中的应用%Prenatal diagnosis of ultrasound and MRI in the simple fetal indirect hernia

    Institute of Scientific and Technical Information of China (English)

    刘沁; 杨小红; 陈欣林; 余旭东; 杨文忠

    2015-01-01

    ObjectiveTo explore the clinical value of ultrasound and MRI in diagnosis of simple fetal indirect hernia.MethodsA total of 671 558 fetuses were examined in maternal and child healthcare hospital of Hubei from February 2003 to February 2015. Once inguinal hernia or testicular tumors was suspected, MRI examination was performed after prenatal ultrasound. Final diagnosis was confirmed by postnatal follow-up. The ultrasonographic characteristics of fetal indirect hernia were compared with prenatal MR image characteristics and postnatal follow-up results.ResultsThree cases were conifrmed after birth. The simple fetal indirect hernia was uncommon clinical entity which occurred during 3rd trimester. The ultrasonic characteristics in prenatal period were: (1) Right enlarged scrotum was iflled with heterogeneous lesion; intestinal peristalsis within the scrotum was found in real-time ultrasonography. (2) The contralateral testis in left scrotum and penis could be found. MRI could display the characteristicsof indirecthernia contents and its extension from abdominal cavity intoinguinalregion, which may help diagnose fetal simple indirect hernia. One case of fetal indirect hernia was misdiagnosed as testicular tumors, which was correctly diagnosed by MRI.ConclusionsThe simple fetal indirect hernia can be prenatally diagnosed by characteristic ultrasonic features, which can present with abnormal mass ininguinalregion. Prenatal ultrasound is the primary screening method of fetal indirect hernia. MRI can serve as a supplement approach. The combination of US and MRI can further improve the diagnostic accuracy of fetal indirect hernia.%目的:探讨超声与磁共振成像在胎儿腹股沟斜疝诊断中的临床应用价值。方法对2003年2月至2015年2月在湖北省妇幼保健院产前超声检查的671558例胎儿行系统超声检查,并对超声检出腹股沟斜疝和疑诊睾丸肿瘤的胎儿行磁共振成像(MRI)和出生后超声复查。与出生后

  6. Prenatal diagnosis and prognosis of triple X syndrome: 47, XXX.

    Science.gov (United States)

    Ben Hamouda, H; Mkacher, N; Elghezal, H; Bannour, H; Kamoun, M; Soua, H; Saad, A; Souissi, M M; Sfar, M T

    2009-11-01

    Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.

  7. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Science.gov (United States)

    Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples. PMID:24795887

  8. BACs-on-Beads Technology: A Reliable Test for Rapid Detection of Aneuploidies and Microdeletions in Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Sandra García-Herrero

    2014-01-01

    Full Text Available The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF or chorionic villus (CV samples based on BACs-on-Beads (BoBs technology and to compare the results with classical karyotyping by Giemsa banding (G-banding of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  9. BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

    Science.gov (United States)

    García-Herrero, Sandra; Campos-Galindo, Inmaculada; Martínez-Conejero, José Antonio; Serra, Vicente; Olmo, Inés; Lara, Coral; Simón, Carlos; Rubio, Carmen

    2014-01-01

    The risk of fetal aneuploidies is usually estimated based on high resolution ultrasound combined with biochemical determination of criterion in maternal blood, with invasive procedures offered to the population at risk. The purpose of this study was to investigate the effectiveness of a new rapid aneuploidy screening test on amniotic fluid (AF) or chorionic villus (CV) samples based on BACs-on-Beads (BoBs) technology and to compare the results with classical karyotyping by Giemsa banding (G-banding) of cultured cells in metaphase as the gold standard technique. The prenatal-BoBs kit was used to study aneuploidies involving chromosomes 13, 18, 21, X, and Y as well as nine microdeletion syndromes in 321 AF and 43 CV samples. G-banding of metaphase cultured cells was performed concomitantly for all prenatal samples. A microarray-based comparative genomic hybridization (aCGH) was also carried out in a subset of samples. Prenatal-BoBs results were widely confirmed by classical karyotyping. Only six karyotype findings were not identified by Prenatal-BoBs, all of them due to the known limitations of the technique. In summary, the BACs-on-Beads technology was an accurate, robust, and efficient method for the rapid diagnosis of common aneuploidies and microdeletion syndromes in prenatal samples.

  10. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    Science.gov (United States)

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  11. Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Senocak, Efsun Urger; Oguz, Kader Karli; Akata, Deniz [Hacettepe University Faculty of Medicine, Department of Radiology, Sihhiye, Ankara (Turkey); Haliloglu, Goknur [Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara (Turkey); Karcaaltincaba, Deniz; Kandemir, Omer [Etlik Zubeyde Hanim Woman' s Hospital, Department of Obstetrics and Gynaecology, Ankara (Turkey)

    2009-04-15

    Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. Several reports of prenatal diagnosis of Pena-Shokeir syndrome phenotype by US have been published. In this report, MRI findings providing prenatal diagnosis are presented. (orig.)

  12. Three-dimensional sonography in prenatal diagnosis: a luxury or a necessity?

    Science.gov (United States)

    Kurjak, A; Hafner, T; Kos, M; Kupesic, S; Stanojevic, M

    2000-01-01

    Three-dimensional sonography revolutionized ultrasound imaging with its capacity to depict an unlimited number of planes in which the object of interest can be displayed. The addition of numerous modalities of image rendering promotes three-dimensional sonography to the top of the spectrum of diagnostic imaging in obstetrics and gynecology. The aim of this article is to present our experience in 3-D sonography during the second and third trimester of pregnancy and to give a comparative review of literature. 247 patients in gestational age ranging from 12 to 40 weeks of gestation were examined over a three year period. The majority of patients entered the study because fetal anomaly was suspected at two-dimensional sonography. Some patients were sent on to three-dimensional sonography because it was not possible to depict clearly normal fetal anatomy by two dimensional sonography. Out of 170 fetal anomalies three-dimensional sonographic analysis failed in only three cases. In all three anomaly was accompanied with severe oligohydramnios. Main advantages of three-dimensional ultrasound in perinatal medicine and antenatal diagnosis include scanning in the coronal plane, improved assessment of complex anatomic structures, surface analysis of minor defects, volumetric measuring of organs, "plastic" transparent imaging of fetal skeleton, spatial presentation of blood flow arborization and, finally, storage of scanned volumes and images. It is our decided opinion that three-dimensional sonography has gained a valuable place in prenatal diagnosis, becoming a necessity for every modern perinatal unit.

  13. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  14. Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

    Institute of Scientific and Technical Information of China (English)

    Qi Qing-wei; Xiang Yang; Hao Na; Zhou Jing; Lu Ke; Tan Li; Sun Nian-hu

    2008-01-01

    Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10~13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.

  15. Research and analysis of Foshan prenatal screening and prenatal diagnosis%佛山地区产前筛查与产前诊断分析研究

    Institute of Scientific and Technical Information of China (English)

    邓璐莎; 郭晓玲; 钟进; 陈志华; 邓秀珍

    2012-01-01

    Objective: Research and analysis of Foshan prenatal screening and prenatal diagnosis. Methods; Since Jun. 2006 -Dec. 2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases, of which 29, 101 cases of voluntary line sero-logical screening, gestational age 15 -25 weeks, age 21 -42 Years, mean age was 25. 73 years. Routine ultrasound screening has 41 333,gestational age 11 -36 weeks. Down's screening and B - ultrasound screening results for the high - risk pregnant women for genetic counseling, prenatal diagnosis confirmed the recommendations. Method of prenatal diagnosis by amniocentesis or transabdomi-nal amniotic fluid cells cultured umbilical vein cord blood cell culture, chromosome with G band staining. Results: The screening of 29 101 cases in the serum of pregnant women in high - risk screening 3227 cases, the positive rate was 11. 1%. High risk of trisomy 21 in which 1287 cases, accounting for 4.4% ; high risk of trisomy 18 423 cases, accounting for 1.45%. Serum screening in the 3227 cases of high - risk pregnant women receive prenatal diagnosis were 1065 cases, accounting for 33% (1065/3227). Abnormal karyotypes of 100 patients, accounting for 12.49% , accounting for 4.12% of high - risk pregnant women (100/3227 ). There are 19 cases of trisomy 21, 2 cases of trisomy 18 detection rate was 1.97% (21/1065) , a total of 21 cases of chromosome abnormalities 21% (21/100). With 41 333 routine ultrasound screening, ultrasound screening for high risk of 851 cases, the positive rate was 2.06%. 206 cases of prenatal diagnosis, chromosomal abnormalities in 45 cases, accounting for 21. 84% (45/206), Check out of 5 cases of trisomy 21, trisomy 18 in 8 cases, 1 case of trisomy 13, accounting for 31.11% of chromosomal abnormalities (14/45). Conclusion: The maternal age, serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening, through prenatal screening, the screening

  16. 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.)

  17. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    Science.gov (United States)

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  18. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation

    Directory of Open Access Journals (Sweden)

    Humberto Perera Navarro

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.

  19. Prenatal diagnosis of an autosomal translocation with regular trisomy 21.

    Science.gov (United States)

    Tunca, Yusuf; Deveci, M Salih; Koc, Altug; Kaya, Halide; Alanbay, Ibrahim; Coksuer, Hakan; Dede, Murat

    2013-06-01

    The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.

  20. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Science.gov (United States)

    Sørensen, Morten Dræby; Gonzalez Dosal, Regina; Jensen, Kim Bak; Christensen, Britta; Kølvraa, Steen; Jensen, Uffe Birk; Kristensen, Peter

    2009-01-01

    Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC) crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS). To evaluate the sensitivity of the method, K562 cells (which express ε-Hb) were spiked in a blood sample followed by staining in solution and FACS analysis. PMID:19636421

  1. Epsilon Haemoglobin Specific Antibodies with Applications in Noninvasive Prenatal Diagnosis

    Directory of Open Access Journals (Sweden)

    Morten Dræby Sørensen

    2009-01-01

    Full Text Available Invasive procedures for prenatal diagnosis are associated with increased risk of abortion; thus, development of noninvasive procedures would be beneficial. Based on the observation that embryonic nucleated red blood cell (NRBC crosses the placenta and enters the circulation of pregnant women, the ability to identify such cell would allow development of such procedures. Identification of NRBCs in blood samples would be possible provided that specific antibodies are available. Here we have isolated recombinant antibodies using phage display. From the panel of antibody fragments specifically recognising ε-Hb, one was chosen for further characterization, DAb1. DAb1 binds to ε-Hb both in Western blots and immunocytochemistry. Several ε-Hb positive cells were detected in a blood sample taken as postchorionic villus sampling (CVS. To evaluate the sensitivity of the method, K562 cells (which express ε-Hb were spiked in a blood sample followed by staining in solution and FACS analysis.

  2. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  3. 产前高频超声检查在剖宫产瘢痕子宫胎盘植入的临床应用%Clinical application of high frequency prenatal ultrasound in the diagnosis of placenta increta in cesarean section scar uterine

    Institute of Scientific and Technical Information of China (English)

    樊树华

    2013-01-01

    Objective To investigate the prenatal ultrasonographic features of placenta increta in cesarean section scar uterus using high frequency color ultrasound, so as to increase the diagnostic accuracy of placenta increta. Methods Color ultrasonographic data of 32 cases of placenta increta in cesarean section scar uterus confirmed by pathology or clinical information were analyzed retrospectively. The data in our hospital were collected from October 2009 to May 2013.Results Of the 32 cases, 3 cases were false negative, so the diagnosis accuracy rate was 90.6%. Conclusion To grasp the ultrasonographic characteristics of placenta increta in cesarean section scar uterus can increase the detection rate.%目的:探讨剖宫产瘢痕子宫胎盘植入的产前高频彩超声像图特征,以提高产前超声检查瘢痕子宫胎盘植入的准确率。方法回顾性分析2009年10月~2013年5月在我院经产后病理或临床证实为瘢痕子宫胎盘植入的32例患者彩超资料。结果32例胎盘植入患者中,产前高频彩超诊断29例,漏诊3例,诊断准确率90.6%。结论准确掌握瘢痕子宫胎盘植入的产前高频超声声像图特点,能提高胎盘植入的检出率。

  4. [Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].

    Science.gov (United States)

    Audifred-Salomón, J; Barrita-Domínguez I J; Ortiz, de Zárate-Alarcón; Sánchez-Hernández, H; Camacho-Cervantes, A

    2016-02-01

    Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling. We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment. The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.

  5. Screening of potential biomarkers for prenatal diagnosis of trisomy 21.

    Science.gov (United States)

    Ma, Ke; Li, Feng; Yu, Yang; Li, Haibo

    2017-05-01

    We aimed to identify key genes located on chromosome 21 as potential biomarkers for prenatal diagnosis of trisomy 21 (Ts21). The microarray data of GSE48051, including 10 cultivated amniocyte samples with Ts21 and 9 controls with normal euploid constitution, was obtained from Gene Expression Omnibus database. The differentially expressed genes (DEGs) in cultivated amniocyte samples with Ts21 compared to normal controls were screened using limma package. Then, we performed GO enrichment analysis using DAVID and chromosomal location of DEGs based on the information of the University of California Santa Cruz (UCSC) Genome Browser Database. Finally, protein-protein interaction (PPI) network analysis was performed using STRING. Total 155 DEGs in cultivated amniocyte samples with Ts21 were identified, including 89 up- and 66 down-regulated DEGs. The over-represented GO terms of DEGs were mainly related with apoptosis, programmed cell death and cell death. In total, 13 DEGs were located on chromosome 21, thereinto, only 6 DEGs were included into the PPI network, including superoxide dismutase 1 (SOD1), phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), downstream neighbour of SON (DONSON), ATP synthase, H + transporting, mitochondrial F1 complex, O subunit (ATP5O), chromatin assembly factor 1, subunit B (p60) (CHAF1B) and proteasome (prosome, macropain) assembly chaperone 1 (PSMG1). Our results suggest that SOD1, GART, DONSON, ATP5O, CHAF1B and PSMG1 may play important roles in the pathogenesis of Down syndrome and may serve as potential biomarkers for prenatal diagnosis of Ts21.

  6. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study

    Institute of Scientific and Technical Information of China (English)

    LIU Tao; LIU Qing; WANG Yi-xin; YANG Dong; XIN Yi; FANG Zhen; DING Shu-fang; YANG Jie-fu

    2010-01-01

    Background A study of prenatal genetic diagnosis for 22q11.2 mierodeletion, which has a wide phenotypic spectrum that involves almost all organs, is rarely reported in China. This study aimed to explore the prevalence of 22q11.2 microdeletion in congenitally malformed fetuses via the fluorescent in situ hybridization (FISH) technique and to investigate the feasibility of use of amniocytes to diagnose 22q11.2 microdeletion syndrome prenatally.Methods The study enrolled 23 cases of fetal cardiac malformation, as indicated by ultrasound in Beijing Anzhen Hospital and 14 cases of non-cardiac malformation, as determined by type-B ultrasound in Beijing Anzhen Hospital and other hospitals. Amniotic fluid was obtained by amniocentesis before odinopoeia, and the stillborn fetuses of the induced labor were preceded to autopsy. The amniotic fluid of 20 cesarean deliveries during the same period of time was used as a control. The TUPLE1 gene in the amniotic fluid of malformed and normal fetuses was assessed by the FISH method.Results The prevalence rates of the TUPLE1 gene deletion in the amniotic fluid cells from fetuses with cardiac deformations and fetuses without such malformations were 43.5% and 57.1%, respectively. The deletion of TUPLE1 was significantly associated with fetal malformation.Conclusion Chromosome 22q11.2 microdeletion is one of the major factors leading to fetal congenital malformations, and prenatal FISH screening for 22q11.2 microdeletion syndrome is technically feasible using amniocytes.

  7. Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.

    Science.gov (United States)

    Razon, Yaron; Berant, Michael; Fogelman, Rami; Amir, Gabriel; Birk, Einat

    2014-12-01

    Right aortic arch (RAA) is usually associated with the presence of a significant congenital heart disease, usually a conotruncal defect, which determines the postnatal outcome. In the absence of such cardiac defects, the significance of RAA has not been determined. The aims of this study were to evaluate the significance of recognizing RAA in fetuses with normal or near normal intracardiac anatomy and to determine which associations may be present. A retrospective study was completed of all fetuses diagnosed with RAA with normal or near normal intracardiac anatomy between 1999 and 2011. The aim was to evaluate the presence of RAA with complete ultrasonic evaluation using two-dimensional imaging complemented by the Doppler color flow technique, paying particular attention to the three-vessel and tracheal view. We compared the prenatal findings with the postnatal outcomes and management of this cohort of fetuses. Among 16,450 fetal echocardiograms, 58 fetuses (0.35%) were diagnosed with RAA with normal or near normal intracardiac anatomy. Gestational age at diagnosis ranged from 19 to 34 weeks (mean, 23 weeks). Isolated RAAs were found in 50 fetuses, and double aortic arches (DAAs) were recognized in eight other cases. The postnatal cohort consisted of 44 newborns with RAAs and eight with DAAs (two were lost to follow-up, and four pregnancies were terminated). Postnatal echocardiography confirmed the prenatal diagnosis of RAA in 41 of 45 children, and four were found to have DAAs. Three of seven fetuses diagnosed prenatally as having DAAs were found to have only RAAs. Fourteen fetuses underwent karyotyping; two had 22q11 deletion and two had 47xxy. Eleven infants (21%) had respiratory symptoms, eight with DAAs, one with RAA, mirror-image head and neck vessels, and two with RAAs and aberrant left subclavian arteries. Surgery was indicated in all symptomatic patients except one, whose symptoms resolved. One asymptomatic patient underwent operation for significant

  8. [Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis].

    Science.gov (United States)

    Gonzales, E; Caeymaex, L; Aboura, A; Vial, M; De Laveaucoupet, J; Labrune, P; Tachdjian, G

    2005-12-01

    We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. The cytogenetic analysis revealed a trisomy 8 mosaicism. The putative role of prenatal cocaine exposure and mosaicism for chromosome 8 in ACC are discussed. This report emphasizes the specific analysis of chromosome 8 by using fluorescence in situ hybridization as a complement to routine cytogenetic analysis for prenatal diagnosis of ACC.

  9. Is a prenatal diagnosis detrimental to the survival of a fetus with trisomy 18?

    Science.gov (United States)

    Morris, Joan K

    2016-04-01

    As trisomy 18 is so rare any individual study is unlikely to have a sufficient number of cases to examine whether a prenatal diagnosis is advantageous or detrimental to the survival of these infants. Estimates of survival in prenatally diagnosed live births have been obtained by combining data from individual hospitals, whereas estimates of survival in postnatally diagnosed live births have been obtained from large population studies linking cytogenetic registers to national mortality registers. The estimates of survival are often lower in the prenatally diagnosed series. However, comparing estimates from these two different sources is not valid; both sources are subject to different biases. At present, there is insufficient information available to indicate that receiving a prenatal diagnosis of trisomy 18 is detrimental to the survival of a foetus with trisomy 18. A prenatal diagnosis does enable the parents and clinicians time to reach a consensus on how best to care for the baby.

  10. 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.

  11. Prenatal diagnosis of isolated right pulmonary agenesis using sonography alone: case study and systematic literature review.

    Science.gov (United States)

    Meller, Cesar H; Morris, R Katie; Desai, Tarak; Kilby, Mark D

    2012-12-01

    Pulmonary agenesis is a rare congenital anomaly, estimated to complicate around 1 per 15,000 pregnancies, in which there is complete absence or severe hypoplasia of one or both lungs, frequently associated with other abnormalities. A prospective prenatal diagnosis is a challenge, and a substantial proportion of cases are diagnosed by fetal magnetic resonance imaging, postnatal computed tomography, or postmortem. Thus, there are only a few reported cases of prenatal diagnosis in the literature. We report the prenatal diagnosis of isolated right lung agenesis diagnosed with sonography alone at a relatively early gestational age. We also present a systematic review of the literature for this condition to accompany this case study.

  12. Transvaginal Ultrasound for the Diagnosis of Abnormal Uterine Bleeding.

    Science.gov (United States)

    Wheeler, Karen C; Goldstein, Steven R

    2017-03-01

    Transvaginal ultrasound is the first-line imaging test for the evaluation of abnormal uterine bleeding in both premenopausal and postmenopausal women. Transvaginal ultrasound can be used to diagnose structural causes of abnormal bleeding such as polyps, adenomyosis, leiomyomas, hyperplasia, and malignancy, and can also be beneficial in making the diagnosis of ovulatory dysfunction. Traditional 2-dimensional imaging is often enhanced by the addition of 3-dimension imaging with coronal reconstruction and saline infusion sonohysterography. In this article we discuss specific ultrasound findings and technical considerations useful in the diagnosis of abnormal uterine bleeding.

  13. Ultrasonic scores of conventional ultrasound and ultrasound elastography in the diagnosis of thyroid nodular lesions

    Institute of Scientific and Technical Information of China (English)

    鄢曹鑫

    2013-01-01

    Objective To explore the values of total ultrasonic scores of conventional ultrasound and ultrasound elastography in the diagnosis of thyroid nodular lesions.Methods A total of 347 thyroid nodules proved by fine-needle aspiration cytology (FNAC) and surgery underwent

  14. Chromosomal mosaicism of extraembryonic cells detected by prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zolotukhina, T.V.; Shilova, N.V. [Institute of Clinical Genetics, Moscow (Russian Federation)

    1995-09-01

    Data on detection of chromosomal mosaicism in amniotic cells and chorionic villi obtained by prenatal cytogenetic diagnosis are presented. The frequency of chromosomal mosaicism in preparations of amniotic fluid cell culture was 2.6% (6 out of 226), and that in {open_quotes}direct{close_quotes} villus preparations was 1.6% (13 out of 774). The necessity to perform an additional analysis of other fetal cells or neonatal lymphocytes to specify the diagnosis was shown. The analysis of the outcome of pregnancies during which chromosomal mosaicism in the extraembryonic cells was detected indicates that these women form a high-risk group, both genetically and obstetrically; in only 8 out of 19 cases did pregnancies end in normal deliveries at term; in three cases, spontaneous abortions occurred at 16-31 weeks of gestation; in three cases, the pregnancies were terminated due to fetal chromosomal aberrations in nonmosaic form; the outcome of pregnancy in five cases was preterm delivery of an underweight newborn. 26 refs., 1 tab.

  15. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  16. 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 t

  17. 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 t

  18. Use of high‐frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc‐deficient mice

    Science.gov (United States)

    Autuori, Maria C.; Pai, Yun J.; Stuckey, Daniel J.; Savery, Dawn; Marconi, Anna M.; Massa, Valentina; Lythgoe, Mark F.; Copp, Andrew J.; David, Anna L.

    2017-01-01

    Abstract Objective We used non‐invasive high‐frequency ultrasound (HFUS) imaging to investigate embryonic brain development in a mouse model for neural tube defects (NTDs) and non‐ketotic hyperglycinemia (NKH). Method Using HFUS, we imaged embryos carrying loss of function alleles of Gldc encoding glycine decarboxylase, a component of the glycine cleavage system in mitochondrial folate metabolism, which is known to be associated with cranial NTDs and NKH in humans. We serially examined the same litter during the second half of embryonic development and quantified cerebral structures. Genotype was confirmed using PCR. Histology was used to confirm ultrasound findings. Results High‐frequency ultrasound allowed in utero detection of two major brain abnormalities in Gldc‐deficient mouse embryos, cranial NTDs (exencephaly) and ventriculomegaly (corresponding with the previous finding of post‐natal hydrocephalus). Serial ultrasound allowed individual embryos to be analysed at successive gestational time points. From embryonic day 16.5 to 18.5, the lateral ventricle volume reduced in wild‐type and heterozygous embryos but increased in homozygous Gldc‐deficient embryos. Conclusion Exencephaly and ventriculomegaly were detectable by HFUS in homozygous Gldc‐deficient mouse embryos indicating this to be an effective tool to study CNS development. Longitudinal analysis of the same embryo allowed the prenatal onset and progression of ventricle enlargement in Gldc‐deficient mice to be determined. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. PMID:28056489

  19. Prenatal diagnosis of isolated interrupted inferior vena cava with azygos continuation to superior vena cava

    Directory of Open Access Journals (Sweden)

    Do Thi Cam Giang

    2014-01-01

    Full Text Available Absence of inferior vena cava is an uncommon congenital abnormality. It is usually associated with other structural anomalies, typically left isomerism. We report a case of interrupted inferior vena cava with azygos continuation diagnosed as an isolated finding during routine prenatal ultrasound scan, confirmed by post-natal echocardiography. Detailed ultrasound examination of the fetal anatomy failed to demonstrate other anomalies. The neonatal course of this fetus was uneventful.

  20. Noninvasive Fetal Trisomy (NIFTY test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Jiang Fuman

    2012-12-01

    Full Text Available Abstract Background Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy. Methods We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY test, combines an optimized Student’s t-test with a locally weighted polynomial regression and binary hypotheses. We applied the NIFTY test to 903 pregnancies and compared the diagnostic results with those of full karyotyping. Results 16 of 16 trisomy 21, 12 of 12 trisomy 18, two of two trisomy 13, three of four 45, X, one of one XYY and two of two XXY abnormalities were correctly identified. But one false positive case of trisomy 18 and one false negative case of 45, X were observed. The test performed with 100% sensitivity and 99.9% specificity for autosomal aneuploidies and 85.7% sensitivity and 99.9% specificity for sex chromosomal aneuploidies. Compared with three previously reported z-score approaches with/without GC-bias removal and with internal control, the NIFTY test was more accurate and robust for the detection of both autosomal and sex chromosomal aneuploidies in fetuses. Conclusion Our study demonstrates a powerful and reliable methodology for noninvasive prenatal diagnosis.

  1. Prenatal ultrasound heating impacts on fluctuations in haematological analysis of Oryctolagus cuniculus.

    Science.gov (United States)

    Ahmad Zaiki, Farah Wahida; Md Dom, Sulaiman; Abdul Razak, Hairil Rashmizal; Hassan, Hamzah Fansuri

    2013-10-01

    Prenatal Ultrasound (US) is commonly used as a routine procedure on pregnant women. It is generally perceived as a safe procedure due to the use of non-ionizing radiation. However, the neurotoxicity of diagnostic prenatal US was detected to have a correlation with high susceptibility to early developing fetus. This research involved in vivo experimental model by using 3(rd) trimester pregnant Oryctolagus cuniculus and exposing them to US exposures for 30, 60, and 90 minutes at their gestational day (GD) 28-29. The output power and intensities, spatial peak temporal average intensity (ISPTA) of US were varied from 0.4 to 0.7 W and 0.13 to 0.19 W/cm(2) respectively were tested initially in free-field, water. Haematological analysis was carried out to detect any changes in blood constituents. Statistically significant differences were detected in red blood cell (RBC) count (Pheating in causing defects on studied animal.

  2. [From diagnosis to decision--decision processes of women in the context of prenatal diagnosis].

    Science.gov (United States)

    Baldus, M

    2001-01-01

    Prenatal diagnosis is a growth industry. The constant introduction of new prenatal tests poses great challenges to prospective parents. In Germany, guidelines for prenatal care include an early nuchal-translucency-sonogram as a routine screening for down syndrome. Developer of this screening predict a 90% discovery rate. This rate can be achieved through the combination of early maternal serum examinations, computer assisted risk calculation and the nuchal-translucency measurement. The extensive use of diverse new technologies is driven by two forces; first, the parents' fear of giving birth to a child with a disability, and second, the offensive marketing strategies by the test-making industry. The information that these tests can yield is vast, yet parents' range of choices in response to these test results remain very limited. After a battery of diagnostic tests, parents confronted with the diagnosis of down syndrome can choose only between continuing or terminating the pregnancy. In the future, more and more women and their partners will be confronted with such a difficult decision. Adequate professional counseling is needed to help parents cope with the critical life event of being told a positive test result. Solutions have to be developed on an individual basis and need to be grounded on the parents' needs. Informing parents of a positive diagnosis can be a challenging moment in professional life. The professional needs to act with sensitivity and competence. The informations he or she provides have to been well balanced. It is necessary to develop quality assurance standards for counseling, diagnosis and crisis intervention.

  3. Use of a portable system with ultrasound and blood tests to improve prenatal controls in rural Guatemala.

    Science.gov (United States)

    Crispín Milart, Patricia Hanna; Diaz Molina, César Augusto; Prieto-Egido, Ignacio; Martínez-Fernández, Andrés

    2016-09-13

    Maternal and neonatal mortality figures remain unacceptably high worldwide and new approaches are required to address this problem. This paper evaluates the impact on maternal and neonatal mortality of a pregnancy care package for rural areas of developing countries with portable ultrasound and blood/urine tests. An observational study was conducted, with intervention and control groups not randomly assigned. Rural areas of the districts of Senahu, Campur and Carcha, in Alta Verapaz Department (Guatemala). The control group is composed by 747 pregnant women attended by the community facilitator, which is the common practice in rural Guatemala. The intervention group is composed by 762 pregnant women attended under the innovative Healthy Pregnancy project. That project strengthens the local prenatal care program, providing local nurses training, portable ultrasound equipment and blood and urine tests. The information of each pregnancy is registered in a medical exchange tool, and is later reviewed by a gynecology specialist to ensure a correct diagnosis and improve nurses training. No maternal deaths were reported within the intervention group, versus five cases in the control group. Regarding neonatal deaths, official data revealed a 64 % reduction for neonatal mortality. A 37 % prevalence of anemia was detected. Non-urgent referral was recommended to 70 pregnancies, being fetal malpresentation the main reported cause. Impact data on maternal mortality (reduction to zero) and neonatal mortality (NMR was reduced to 36 %) are encouraging, although we are aware of the limitations of the study related to possible biasing and the small sample size. The major reduction of maternal and neonatal mortality provides promising prospects for these low-cost diagnostic procedures, which allow to provide high quality prenatal care in isolated rural communities of developing countries. This research was not registered because it is an observational study where the assignment of

  4. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience.

    Science.gov (United States)

    Marek, Jan; Tomek, Viktor; Skovránek, Jan; Povysilová, Viera; Samánek, Milan

    2011-01-01

    To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

  5. [Diagnosis of fetal malformations with ultrasound--state of development].

    Science.gov (United States)

    Fendel, M; Fendel, H

    1983-01-01

    Ultrasonography is of great importance for the prenatal diagnosis of fetal malformations and abnormalities. An early diagnosis in the second trimester is of great interest for an intrauterine or an extrauterine therapy planning (the choice of the time and mode of delivery). Defects of the neural tube including hydrocephalus, malformations of the extremities, the gastrointestinal tract, omphaloceles, the urogenital and cardiac system are described. Four cases of fetal malformations are presented: fetal myelomeningocele, hydrocephalus, bilateral hydronephrosis and lymphangioma with fetal ascites.

  6. 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.)

  7. 泰安市妇幼保健院2009-2012年超声产前诊断胎儿畸形分析%Analysis of ultrasound prenatal diagnosis fetal malformations of Taianˊs Maternity & Child Hospital

    Institute of Scientific and Technical Information of China (English)

    张格云; 李婧

    2015-01-01

    目的:通过对超声产前诊断结果进行分析。了解胎儿畸形的发生率、发生畸形的种类、年度发展趋势及受孕时间、妊娠年龄与胎儿畸形发生率的关系。方法对2009—2012年来我院进行产前超声诊断的妊娠妇女的一般情况和检查结果逐个进行登记,汇总后进行全面统计分析。结果在8452例孕妇产前超声检查中筛查出胎儿畸形290例,总发生率为3.43%,前3位依次为循环系统畸形98例,发生率1.16%,中枢神经系统畸形55例,发生率0.65%,泌尿系统畸形43例,发生率0.51%;各年度畸形发生率呈现波浪式起伏;受孕时间与胎儿畸形发生率有关,冬、春季受孕者胎儿畸形发生率明显高于夏、秋季受孕妇女;妊娠妇女年龄同胎儿畸形发生率有关,年龄越大,畸形发生率越高。结论超声检查在产前诊断中具有极其重要的价值。超声检查可以筛查出绝大多数的胎儿解剖结构畸形,对降低出生缺陷的发生率,提高人口素质是一项极为有力的举措。应广泛开展围产期保健和优生优育的健康教育。%Objective Through the analysis of the results of ultrasound prenatal diagnosis in our hospital, to understand the relationship between the incidence, the type, the development trend of the year, time to pregnancy,gestational age and the incidence of fetal malformations. Methods General conditions and test results of pregnant women from 2009 to 2012 were regis-tered individually, to conduct a comprehensive summary of the statistical analysis. Results There are 290 fetal malformations in 8 452 women who took the ultrasonic testing with a total incidence of 3. 43%. Among the 290 malformations, the top three are 98 circulatory system malformations with an incidence of 1. 16%, 55 central nervous system malformations with an incidence of 0. 65% and 43 urinary system malformations with an incidence of 0. 51%. The incidence of malformations

  8. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

    OpenAIRE

    1989-01-01

    The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new probes (CKMM and BCL4) has helped to solve the problem of uninformativeness owing to unhelpful genotype...

  9. 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)

  10. Diagnosis of Necrotizing Fasciitis with Bedside Ultrasound: the STAFF Exam

    OpenAIRE

    Erik Castleberg; Natasa Jenson; Vi Am Dinh

    2014-01-01

    The early diagnosis of necrotizing fasciitis is often ambiguous. Computed tomography and magnetic resonance imaging, while sensitive and specific modalities, are often time consuming or unavailable. We present a case of necrotizing fasciitis that was rapidly diagnosed using bedside ultrasound evaluating for subcutaneous thickening, air, and fascial fluid (STAFF). We propose the STAFF ultrasound exam may be beneficial in the rapid evaluation of unstable patients with consideration of necrotizi...

  11. Ultrasound in the diagnosis of gallstone ileus: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jong Hwa; Lee, Hyeon Kyeong; Lee, Chae Kyeong; Lee, Sung Woo; Lee, Jun Hee [Dongguk University College of Medicine, Seoul (Korea, Republic of)

    1999-06-15

    Gallstone ileus is a relatively uncommon complication of gallbladder stone. It accompanies the fistula from gallbladder to small intestine, usually to duodenum with the mechanical obstruction of small bowel. The stone is most commonly located in the distal ileum. Its diagnosis can be made when the stone is detected in the obstructed bowel lumen by ultrasound. Here we report one case of gallstone ileus diagnosed by ultrasound and confirmed surgically.

  12. Ultrasound diagnosis of fibroadenoma - is biopsy always necessary?

    Energy Technology Data Exchange (ETDEWEB)

    Smith, G.E.C. [Bradford Royal Infirmary, Bradford, West Yorkshire (United Kingdom)], E-mail: gemmaecsmith@hotmail.com; Burrows, P. [Bradford Royal Infirmary, Bradford, West Yorkshire (United Kingdom)

    2008-05-15

    Aim: To review the ultrasound characteristics of fibroadenoma and the necessity to biopsy all fibroadenomas in the under 25 years age group. Materials and methods: The details of all patients under 25 years of age who attended a large district general hospital in the UK between 1995 and 2005 with a clinical diagnosis of fibroadenoma and subsequently, underwent a breast biopsy were obtained. The report of the targeted ultrasound for these patients was reviewed and this was correlated with the histopathology report (n = 447). If there was a significant discrepancy between the ultrasound and the pathology report, the ultrasound images were reviewed. Results: Out of 447 patients 357 had an ultrasound diagnosis of fibroadenoma. This was histologically proven in 281 (78.8%) cases. In 75 (21.5%) of these patients the final histology was either another benign pathology or normal. One patient (0.3%) had an invasive carcinoma. Conclusion: The majority of patients in the 25 years and under age group have benign breast pathology, most commonly fibroadenoma. Modern ultrasound is a reliable technique to diagnose fibroadenoma in the hands of experienced breast radiologists. Therefore, in this age group, it is proposed that a palpable lump that has the ultrasound characteristics entirely consistent with a fibroadenoma need not be biopsied unless there is overriding clinical concern. The patients should be reassured, discharged, and advised to return for further evaluation only if they detect a change in the palpable abnormality.

  13. Social impacts of technological diffusion: prenatal diagnosis and induced abortion in Brazil.

    Science.gov (United States)

    Novaes, H M

    2000-01-01

    Scientific and technological development plays an essential part in shaping contemporary societies, and medicine and health care are considered to be particularly receptive to the incorporation of new concepts, techniques and products, producing impacts not only on the health problems for which they were originally intended, but also varied 'side-effects', less frequently recognised and studied. In this study the point of departure was the hypothesis that the intensive diffusion in Brazil of prenatal ultrasound would create new problems for individuals (pregnant women, their families and health professionals) and society in coping with foetal malformations, due to the existence of a very restrictive induced abortion legislation. The objective of the research was to study the social visibility of these problems, in the written mass media. The period under analysis went from 1991 to 1996. The four most important daily newspapers and two medical council journals were studied, with a criteria oriented selection of articles, and their macrotextual thematic analysis. The results indicate that the basic elements in the relationships between medical technology, prenatal diagnosis, foetal malformations and induced abortions stayed the same along the period - a restrictive Penal Code, the public recognition of the disseminated and usually tolerated practice of induced abortion, done in risky conditions for the majority of women, with very evident consequences on maternal health, a divided Congress, a divided 'public opinion', religious opposition and new scientific and technological practices in health care. Nevertheless, tension between these 'contradictory' factors increases, so much so, that new elements are introduced which make an accommodation possible, without implying in major changes of position. This is achieved through the development of new alliances between Science, the judiciary and obstetrical leaders, which benefit individual initiatives, instead of leading

  14. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

    Directory of Open Access Journals (Sweden)

    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  15. Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

    Science.gov (United States)

    Forrester, Mathias B; Merz, Ruth D

    2003-06-15

    Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

  16. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

    Science.gov (United States)

    Wigby, Kristen; D'Epagnier, Cheryl; Howell, Susan; Reicks, Amy; Wilson, Rebecca; Cordeiro, Lisa; Tartaglia, Nicole

    2016-11-01

    Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Estimation of prenatal aorta intima-media thickness from ultrasound examination

    Science.gov (United States)

    Veronese, E.; Tarroni, G.; Visentin, S.; Cosmi, E.; Linguraru, M. G.; Grisan, E.

    2014-10-01

    Prenatal events such as intrauterine growth restriction and increased cardiovascular risk in later life have been shown to be associated with an increased intima-media thickness (aIMT) of the abdominal aorta in the fetus. In order to assess and manage atherosclerosis and cardiovascular disease risk in adults and children, in recent years the measurement of abdominal and carotid artery thickness has gained a growing appeal. Nevertheless, no computer aided method has been proposed for the analysis of prenatal vessels from ultrasound data, yet. To date, these measurements are being performed manually on ultrasound fetal images by skilled practitioners. The aim of the presented study is to introduce an automatic algorithm that identifies abdominal aorta and estimates its diameter and aIMT from routine third trimester ultrasonographic fetal data. The algorithm locates the aorta, then segments it and, by modeling the arterial wall longitudinal sections by means of a gaussian mixture, derives a set of measures of the aorta diameter (aDiam) and of the intima-media thickness (aIMT). After estimating the cardiac cycle, the mean diameter and the aIMT at the end-diastole phase are computed. Considering the aIMT value for each subject, the correlation between automatic and manual end-diastolic aIMT measurements is 0.91 in a range of values 0.44-1.10 mm, corresponding to both normal and pathological conditions. The automatic system yields a mean relative error of 19%, that is similar to the intra-observer variability (14%) and much lower that the inter-observer variability (42%). The correlation between manual and automatic measurements and the small error confirm the ability of the proposed system to reliably estimate aIMT values in prenatal ultrasound sequences, reducing measurement variability and suggesting that it can be used for an automatic assessment of aIMT. Preliminary results have been presented in E Veronese, E Cosmi, S Visentin, E Grisan: 'Semiautomatic estimation

  18. Ultrasound diagnosis of ulnar nerve dislocation and snapping triceps syndrome

    Directory of Open Access Journals (Sweden)

    Vivek Bhagwat Gupta

    2012-06-01

    Full Text Available Dislocation of the ulnar nerve with snapping triceps syndrome has been implicated as a cause of cubital tunnel syndrome. Patients with this condition may clinically present with a snapping sensation at the elbow upon flexion along with ulnar neuropathic symptoms. Though demonstration of this condition is possible by static MRI images, ultrasound can be used as a more accessible and inexpensive modality for attaining diagnosis. This pictorial essay emphasises the technique, findings and role of dynamic ultrasound in the diagnosis of this entity.

  19. Analysis of Fetal Blood: Is There Still a Role for Prenatal Diagnosis of Thalassemia?

    Science.gov (United States)

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

    2016-01-01

    The aim of the present study was to report the use of analysis of fetal blood in prenatal diagnosis (PND) of β- and α-thalassemia (β- and α-thal), at a Chinese tertiary, maternity center. All cases undergoing invasive testing for PND of thalassemias from 1 January 2010 to 31 December 2014 were included. The main clinical characteristics of these invasive procedures were retrieved from the database software used for analysis. One thousand, nine hundred and six invasive PNDs were carried out for thalassemia, including 904 cases for β-thal and 1002 for α-thal. In the 904 PNDs for β-thal, chorionic villus sampling (CVS) was done in 321 cases and amniocentesis in 583 cases. No fetal blood analysis was used for cases at-risk for β-thal. In the 1002 PNDs for α-thal, CVS was done in 724 cases, amniocentesis in 137 cases and fetal blood analysis in 141 cases. All the 278 cases sampled by amniocentesis or fetal blood analysis were found to be affected by Hb Bart's (γ4) disease. Currently, fetal blood analysis is considered only in relatively late gestation when Hb Bart's disease has already been identified by ultrasound in a fetus at-risk for α-thal.

  20. Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2013-10-01

    Full Text Available The most common karyotype of the Turner syndrome is 45,X, although it may occur as mosaic 45,X/46,XX. In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX. A male was diagnosed through ultrasound and a sample of amniotic fluid was sent to the National Medical Genetics Center to confirm it. A study of the SRY gene was completed and the result was positive. The patient decided to terminate the pregnancy. The pathology report showed a fetal corpse of 25, 3 weeks of gestation, with penis and morphologically normal scrotal sacs, presenting alterations by cysts and hypoplasia of the prostate and seminal vesicles as well as testicular absence. In the literature, cases of XX males are considered uncommon while those combining a mosaic 45, X/46, XX with a SRY gene are less addressed; and therein lies the importance of this case. This article presents the results of a prenatal diagnosis of this rare chromosomal aberration.

  1. Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwa; Lee, Yu Jin; Song, Mi Jin; Han, Byoung Hee; Lee, Young Ho; Lee, Kyung Sang [Dept. of Radiology, Cheil General Hospital and Women' s Healthcare Center, Catholic Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2015-01-15

    To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had fetuses diagnosed with dacryocystocel larger than 5 mm were reviewed for maternal age, gestational age (GA) at detection, size and side of the dacryocystoceles, delivery, and postnatal information, such as GA at delivery, delivery mode, and gender of the neonate. A total of 49 singletons were diagnosed with a dacryocystocele on prenatal US, yielding an overall incidence of 0.43%. The incidence of dacryocystoceles was the highest at the GA of 27 weeks and decreased toward term. Of the 49 fetuses including three of undeter mined gender, 25 (54%) were female. The mean GA at first detection was 31.2 weeks. The dacryocystocele was unilateral in 29 cases, with a mean maximum diameter of 7 mm. Spontaneous resolution at birth was documented in 35 out of 46 neonates (76%), including six with prenatal resolution. Multivariate analysis demonstrated that GA at delivery was a significant predictor of the postnatal persistence of dacryocystoceles (P=0.045). The overall incidence of prenatal dacryocystoceles was 0.43%; the incidence was higher in the early third trimester and decreased thereafter. Prenatal dacryocystoceles resolved in 76% of the patients at birth, and the GA at delivery was a significant predictor of postnatal persistence.

  2. Subcutaneous Cysticercosis: Role of High Resolution Ultrasound in Diagnosis

    Directory of Open Access Journals (Sweden)

    Sachin Lohra

    2014-02-01

    Full Text Available BACKGROUND: Though the commonest site of extraintestinal infestation with Taenia solium is brain, Subcutaneous cysticercosis is fairly common in asia. The advent of high resolution ultrasound, FNAC, and a heightened clinician awareness of the existence of isolated soft tissue cysticerci has probably supplanted the need for surgical intervention and excision biopsy in asymptomatic subcutaneous cysts, as cysts have high rate of spontaneous resolution. OBJECTIVES: - To observe role of high resolution ultrasound in diagnosis and need of surgical intervention in treatment of subcutaneous cysticercosis. MATERIALS and METHODS: retrospective study of seven cases of extraneural cysticercosis, all involving the subcutaneous tissues or muscles over the arms and torso. Either high resolution ultrasound, FNAC, or excision biopsy, or a combination of these were used to arrive at a diagnosis. All patients were followed up with serial ultrasounds. All patients received oral nitazoxanide for autoinfection. Surgical excision was resorted to in two patients, in whom it was possible to obtain a histopathologic diagnosis. RESULTS: of the seven cases of subcutaneous cysticercosis all have rural background, most of the patients (6 were vegetarian and one was non vegetarian. Age and gender of patient, size and duration of lesion were insignificant in establishing the diagnosis. High resolution ultrasound was highly significant in establishing the diagnosis over FNAC and histopathology. Five of the cases resolved spontaneously and surgical intervention was required only in two cases. INTERPRETATION and CONCLUSIONS: With heightened clinician awareness of the existence of isolated subcutaneous cysticercosis in patients with close animal contact, and the widespread availability of high resolution ultrasound and FNAC, subcutaneous cysticercosis can be diagnosed readily. Surgery can be avoided in the great majority of these patients, as the cysts mostly resolve on their own

  3. Prenatal Diagnosis of 17p13.1p13.3 Duplication

    Directory of Open Access Journals (Sweden)

    Kirsi Kiiski

    2012-01-01

    Full Text Available We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA. In addition Prenatal BACs-on-Beads (PN_BoBs assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.

  4. Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report

    Institute of Scientific and Technical Information of China (English)

    CHEN Lian; ZHAO Yang-yu; WEI Yuan; WANG Yan; ZHANG Yan; WANG Yong-qing; LIU Jian-ying; YANG Yong; TAN Yan-hong

    2012-01-01

    Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease.Because of a reduced number of sweat glands,patients are unable to perspire and consequently suffer from hyperthermia and infection.This is a potential cause of death in childhood.Domestic prenatal diagnosis methods focus on genetic diagnosis.But for some conditions,because of the uncertain molecular pathology,we need other methods to assist to in prenatal diagnosis.Here,we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin bioosv under fetoscopy in mid pregnancy,combined with a review of the literature.

  5. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, R.G.; Cole, C.G.; Hart, K.A.; Bobrow, M.; Bentley, D.R. (Guy' s Hospital, London (England))

    1989-01-25

    Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD) by DNA methods uses Southern blotting to detect either the informative segregation of restriction fragment length polymorphisms (RFLPs) or the absence of restriction fragments in affected males. Recently, the use of the polymerase chain reaction (PCR) for rapid detection of deletions in some affected males was reported eliminating the need for Southern blotting of 37% of all samples. This approach is not applicable, however, to non-deletion cases or for carrier diagnosis. The authors have used PCR for rapid analysis of intragenic RFLPs to permit both carrier and prenatal diagnosis in the majority of familial cases.

  6. 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.

  7. Transcranial Ultrasound in the Diagnosis of Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Aniley Martínez González

    2014-10-01

    Full Text Available Parkinson’s disease is the second most common neurodegenerative disorder and, since it is associated with aging, the probability of developing this disease increases with age. The diagnosis of idiopathic Parkinson’s disease is based on clinical criteria; however, its differentiation from other forms of Parkinsonism can be difficult, especially in early stages of the disease. Transcranial ultrasound has become a tool for the diagnosis of this disorder, being very useful for its early diagnosis. Ultrasonographic findings characteristic of this disease include increased echogenicity of the substantia nigra in the midbrain measured through the temporal bone window. This paper discusses the usefulness of transcranial ultrasound for early diagnosis of patients with Parkinson's disease.

  8. First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-12-01

    Conclusion: Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib–polydactyly syndrome, Bardet–Biedl syndrome, orofaciodigital syndrome, Smith–Lemli–Opitz syndrome, and hydrolethalus syndrome.

  9. Midbrain segmentation in transcranial 3D ultrasound for Parkinson diagnosis.

    Science.gov (United States)

    Ahmadi, Seyed-Ahmad; Baust, Maximilian; Karamalis, Athanasios; Plate, Annika; Boetzel, Kai; Klein, Tassilo; Navab, Nassir

    2011-01-01

    Ultrasound examination of the human brain through the temporal bone window, also called transcranial ultrasound (TC-US), is a completely non-invasive and cost-efficient technique, which has established itself for differential diagnosis of Parkinson's Disease (PD) in the past decade. The method requires spatial analysis of ultrasound hyperechogenicities produced by pathological changes within the Substantia Nigra (SN), which belongs to the basal ganglia within the midbrain. Related work on computer aided PD diagnosis shows the urgent need for an accurate and robust segmentation of the midbrain from 3D TC-US, which is an extremely difficult task due to poor image quality of TC-US. In contrast to 2D segmentations within earlier approaches, we develop the first method for semi-automatic midbrain segmentation from 3D TC-US and demonstrate its potential benefit on a database of 11 diagnosed Parkinson patients and 11 healthy controls.

  10. Prenatal diagnosis as a tool and support for eugenics: myth or reality in contemporary French society?

    Science.gov (United States)

    Gaille, Marie; Viot, Géraldine

    2013-02-01

    Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist's various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for "normality" hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way.

  11. A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

    Directory of Open Access Journals (Sweden)

    Ebru Dundar Yenilmez

    2013-06-01

    Full Text Available Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000: 317-334

  12. Ultrasound in differential diagnosis of periapical radiolucencies: A radiohistopathological study

    Directory of Open Access Journals (Sweden)

    Neha Khambete

    2015-01-01

    Full Text Available Objectives: To evaluate the efficacy of ultrasound in differential diagnosis of periapical radiolucencies. Materials and Methods: Ten patients aged between 19 years and 40 years with periapical lesions associated with anterior maxillary or mandibular teeth were selected and consented for the study. Pre-operative periapical radiographs were obtained. Measurements and provisional diagnoses of the apical areas were made by two specialist observers on two separate occasions. Preoperative ultrasound examinations with Doppler flowmetry were then performed and the images assessed by two specialist observers for the size, contents, vascular supply and a provisional diagnosis made as to whether the lesion was a cyst or granuloma. Endodontic surgery was performed including curettage of the apical tissues to enable histopathological investigation, which provided the gold standard diagnosis. All measurements and findings were compared and statistically analyzed. Results: Total 10 lesions were identified in 10 patients. On periapical radiographs, lesions were readily identified but observers were unable to differentiate granuloma from cyst using either modality. Where sufficient buccal cortical bone had been resorbed, ultrasound imaging was simple but underestimated the size of the lesions compared with periapical radiographs. In all cases, the ultrasound diagnosis agreed with the histopathological gold standard. Conclusion: Ultrasonography (USG can provide accurate information about the nature of intraosseous lesions of the jaws before any surgical procedure. It is proposed that USG with Doppler flowmetry can provide an additional diagnostic tool without invasive surgery, where treatment option is nonsurgical.

  13. Bedside ultrasound diagnosis of pulmonary contusion.

    Science.gov (United States)

    Stone, Michael B; Secko, Michael A

    2009-12-01

    A 10-year-old boy presented to the emergency department after being struck by a van while crossing the street. He complained of right side chest pain, and a chest radiography was suggestive of pulmonary contusion. The treating physician performed a bedside ultrasound that revealed a right-sided pulmonary contusion that was subsequently confirmed on computed tomography of the thorax. The sonographic features of pulmonary contusion are described, and the possible role of lung sonography in the assessment of pediatric thoracic trauma is discussed.

  14. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Directory of Open Access Journals (Sweden)

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  15. Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-04-01

    Full Text Available A 40-year-old, primigravid woman presented at 23 weeks of gestation for evaluation of an extra-abdominal echogenic cystic mass of the fetus. Amniocentesis revealed a karyotype of 46,XX. Prenatal ultrasound showed a two-vessel umbilical cord, hydrocolpos, and distended bladder, urethra, and colon, and a perineal cystic mass. The kidneys and amniotic fluid amount were normal. Fetal magnetic resonance imaging revealed ascites, hydrocolpos, distended urinary bladder and colon, high rectum, and a perineal cyst. The fetus postnatally manifested persistent cloaca. The perineum was distended and smooth, without patent anal, vaginal, and urethral openings. The external genitalia were ambiguous with no labia majora, labia minora, or clitoris. The perineal cyst had a very small single orifice. We suggest that cloacal anomalies be considered in any female fetus with hydrocolpos, distended bladder and colon, ascites, and a perineal cyst.

  16. 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.

  17. Prenatal diagnosis of congenital malformations in 500 pregnancies

    NARCIS (Netherlands)

    Leschot, N.J.; Treffers, P.E.; Verjaal, M.; Weduwen, J.J. der; Bennebroek Gravenhorst, J.; Coelingh Bennink, H.J.T.

    1979-01-01

    The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion ind

  18. First-trimester prenatal sonographic diagnosis of ectopia cordis in a twin gestation.

    Science.gov (United States)

    Barbee, Kristen; Wax, Joseph R; Pinette, Michael G; Cartin, Angelina; Blackstone, Jacquelyn

    2009-01-01

    The 11-14-week ultrasound examination allows early pregnancy dating, detection of major anomalies and multiple gestations, and accurate chorionicity determination. We describe a rare case of first-trimester sonographic diagnosis of ectopia cordis in a dichorionic twin pregnancy, illustrating the benefits of early ultrasound in patient counseling and management.

  19. Endoscopic ultrasound in the diagnosis and staging of lung cancer

    DEFF Research Database (Denmark)

    Colella, Sara; Vilmann, Peter; Konge, Lars

    2014-01-01

    We reviewed the role of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) and esophageal ultrasound guided fine needle aspiration (EUS-FNA) in the pretherapeutic assessment of patients with proven or suspected lung cancer. EUS-FNA and EBUS-TBNA have been shown to have...... a good diagnostic accuracy in the diagnosis and staging of lung cancer. In the future, these techniques in combination with positron emission tomography/computed tomographic may replace surgical staging in patients with suspected and proven lung cancer, but until then surgical staging remains the gold...

  20. Diagnosis of necrotizing faciitis with bedside ultrasound: the STAFF Exam.

    Science.gov (United States)

    Castleberg, Erik; Jenson, Natasa; Dinh, Vi Am

    2014-02-01

    The early diagnosis of necrotizing fasciitis is often ambiguous. Computed tomography and magnetic resonance imaging, while sensitive and specific modalities, are often time consuming or unavailable. We present a case of necrotizing fasciitis that was rapidly diagnosed using bedside ultrasound evaluating for subcutaneous thickening, air, and fascial fluid (STAFF). We propose the STAFF ultrasound exam may be beneficial in the rapid evaluation of unstable patients with consideration of necrotizing fasciitis, in a similar fashion to the current use of a focused assessment with sonography for trauma exam in the setting of trauma.

  1. ULTRASOUND AND COMPUTED TOMOGRAPHIC DIAGNOSIS OF OPTIC NERVE TUMORS

    Directory of Open Access Journals (Sweden)

    S. V. Saakyan

    2012-01-01

    Full Text Available A comprehensive examination was made in 93 patients, including 18 children, with tumors of the optic nerve (ON. Duplex ultrasound scanning was performed in 39 patients, of them there were 11 patients with ON gliomas and 28 with ON meningiomas. The specific computed tomographic and echographic signs of ON glioma and meningiomas were detected. The studies have shown that duplex ultrasound scanning and structural computed tomography of orbital sockets are highly informative complementary imaging procedures for ON tumors, which permits one to make their correct diagnosis, to specify surgical volume, and to plan adequate treatment.

  2. Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

    Science.gov (United States)

    Talmaci, R; Coriu, D; Dan, L; Cherry, L; Gavrila, L; Barbarii, L; Dogaru, M; Vladareanu, F; Vladareanu, R; Peltecu, G; Colita, D

    2008-01-01

    Thalassaemia major is a classical example of a disease that can be prevented by prenatal diagnosis. In Romania there are currently 300 patients with thalassaemia major under the management of specialized institutions. Prenatal diagnoses of thalassemia have offered a new dimension to the prevention of this disease, but in order to implement prenatal diagnosis, knowledge of mutations and of their incidence is essential. Molecular testing using Denaturing Gradient Gel Electrophoresis (DGGE) scanning and direct mutation detection with Amplificaton Refractory Mutation System-PCR (ARMS-PCR) and Restriction endonuclease Analysis of PCR fragments (PCR-RFLP) was performed by using amplified DNA from amniotic cells samples, while mutations in the parents were determined in advance. Using our experience in molecular diagnosis, we were able to perform the first prenatal diagnosis for two young couples at risk for thalassaemia major. Foetal samplings were collected by amniocentesis and chorionic villus sampling in the second trimester of the pregnancies. Maternal contamination of the foetal DNA was ruled out by STR genotyping. The prenatal diagnosis revealed affected foetuses with homozygous status of beta-thalassemia major. The IVSI-110 (G-A)/IVS II-745 (C-G) genotype in the first case foetus and ed 8 (-AA)/cd 8 (-AA) in the second case foetus were reported. The results of this study point to a successful future prenatal diagnosis of beta-thalassnemia in Romania, using a rapid and accurate molecular method. Together with the implementation of proper preventive health measures and the education of parents regarding their carrier status, we are hoping that this method will be used as the common application approach to decrease the incidence of thalassacmia major.

  3. Prenatal diagnosis of choledochal cyst using magnetic resonance imaging: A case report

    Institute of Scientific and Technical Information of China (English)

    Alex Mun-Ching Wong; Yun-Chung Cheung; Yu-Hung Liu; Koon-Kwan Ng; Siu-Cheung Chan; Shu-Hang Ng

    2005-01-01

    Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.

  4. 胎儿脑灰质异位的产前诊断及文献回顾%Prenatal diagnosis of fetal gray matter heteropia in one case and literature review

    Institute of Scientific and Technical Information of China (English)

    张葵; 李胜利; 华轩; 袁鹰

    2015-01-01

    Objective To investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias (FGMH) and evaluate the optimal method its prenatal diagnosis. Methods The prenatal and postnatal ultrasound images and MRI images were analyzed for a fetus with a definitive diagnosis of FGMH. The detection rates of FGMH by prenatal ultrasound and MRI reported in literature were compared. Results We identified 11 reports of FGMH from 1998 to 2015, involving 43 cases with prenatal diagnoses. Of the total of 44 cases (including our case), 32 that had been confirmed postpartum had prenatal ultrasound and MRI data, which showed a significantly lower detection rates of FGMH by prenatal ultrasound than by MRI (43.8% vs 93.8%, P<0.001). Conclusions Prenatal ultrasound can only detect subependymal heterotopia with characteristic manifestations, and the detection of other types of FGMH relies on MRI, which is currently the best option for prenatal diagnosis of FGMH.%目的:探讨胎儿大脑灰质异位(FGMH)的产前超声图像特征并评价其最佳产前诊断方法。方法对1例大脑灰质异位产前产后超声图像以及核磁共振图像进行分析,结合产前诊断该病的相关文献进行回顾性分析,比较产前超声及MRI对FGMH的检出率。结果总结1998~2015年文献11篇,结合本文报道1例,产前诊断灰质异位44例,经活产或引产后证实且有产前超声和产前MRI资料者32例,其中超声检出率43.8%,MRI检出率93.8%,二者检出率比较差异有统计学意义(P<0.001)。结论只有室管膜下型大脑灰质异位才有可能为产前超声所发现,其他类型主要依靠MRI。MRI是FGMH最佳产前诊断方法,当产前超声提示灰质异位时都应进一步行MRI检查。

  5. Fetal cells in maternal blood: state of the art for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Ho, S S; O'Donoghue, K; Choolani, M

    2003-09-01

    In Singapore, 1 in 5 pregnancies occur in mothers > 35 years old and genetic diseases, such as thalassaemia, are common. Current methods for the diagnosis of aneuploidy and monogenic disorders require invasive testing by amniocentesis, chorion villus biopsy or fetal blood sampling. These tests carry a procedure-related risk of miscarriage that is unacceptable to many couples. Development of non-invasive methods for obtaining intact fetal cells would allow accurate prenatal diagnosis for aneuploidy and single gene disorders, without the attendant risks associated with invasive testing, and would increase the uptake of prenatal diagnosis by women at risk. Isolation of fetal erythroblasts from maternal blood should allow accurate non-invasive prenatal diagnosis of both aneuploidies and monogenic disorders. Expression of gamma-globin in maternal erythroblasts and the inability to locate fetal erythroblasts reliably in all pregnancies have prevented its clinical application. In the absence of a highly specific fetal cell marker, enrichment, identification and diagnosis--the 3 components of non-invasive prenatal diagnosis--have clearly defined objectives. Since fetal cells are rare in maternal blood, the sole purpose of enrichment is yield--to recover as many fetal cells as possible--even if purity is compromised at this stage. In contrast, the primary goal of identification is specificity; absolute certainty of fetal origin is required at this stage if the ultimate objective of diagnosis, accuracy, is to be achieved. This review summarises the current state of the art of non-invasive prenatal diagnosis using fetal erythroblasts enriched from maternal blood.

  6. Prenatal diagnosis of isolate fetal cleft palate by two-dimensional ultrasonography%单纯腭裂的产前二维超声诊断

    Institute of Scientific and Technical Information of China (English)

    张忠路; 王聪; 安霞; 王少春; 陈东风; 崔雪梅

    2015-01-01

    Objective To discussion the value of palate standard section in prenatal ultrasound diagnosis of isolate cleft palate,and summarize the two-dimensional ultrasound characteristics of isolate cleft palate.Methods Two-dimensional ultrasound was performed in 1 8 073 fetuses during 1 8 to 40 gestational weeks of pregnancy.Fetal palate structure were scanned through the oral cleft,the cheek,the neck part,and the standard sagittal section,transverse section and coronal section were obtained to diagnosis cleft palate. The results were compared with labour or postpartum findings.Results In 1 8 073 cases,20 cases of isolate cleft palate,1 9 cases were diagnosed as fetal isolate cleft palate by prenatal ultrasonography,of which 1 8 cases were correctly diagnosed,1 case was misdiagnosed,1 case was missed diagnosed.The sensitivity, specificity,accuracy of prenatal ultrasound detection were 95%,100%,95%,respectively.The ultrasonic characteristics of isolate cleft palate:lack of crack were located in the midline,soft cleft palate was shown as the midline of soft palate interrupted,short of crack was“><”、“‖”、“/\\”形,硬腭裂表现为硬腭正中回声中断,缺裂呈倒“U”形或倒“V”形。结论腭的标准切面在单纯腭裂的产前超声诊断中具有较高的应用价值,可评估裂隙形态、长度、宽度、走向、累及范围等。

  7. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

    DEFF Research Database (Denmark)

    Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst;

    2005-01-01

    , prenatal diagnosis of MADD has relied mostly on second-trimester biochemical analyses of amniotic fluid or cultured amniocytes. We report here on an alternative DNA-based approach for prenatal diagnosis in pregnancies at risk of MADD. METHODS: We used our knowledge of the mutational status in three...

  8. Genetic counseling and prenatal diagnosis: a multicultural perspective.

    Science.gov (United States)

    Puñales-Morejon, D

    1997-01-01

    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  9. Update on procedure-related risks for prenatal diagnosis techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Alfirevic, Zarko

    2010-01-01

    Introduction: As a consequence of the introduction of effective screening methods, the number of invasive prenatal diagnostic procedures is steadily declining. The aim of this review is to summarize the risks related to these procedures. Material and Methods: Review of the literature. Results: Data...... from randomised controlled trials as well as from systematic reviews and a large national registry study are consistent with a procedure-related miscarriage rate of 0.5-1.0% for amniocentesis as well as for chorionic villus sampling (CVS). In single-center studies performance may be remarkably good due...... not be performed before 15 + 0 weeks' gestation. CVS on the other hand should not be performed before 10 weeks' gestation due to a possible increase in risk of limb reduction defects. Discussion: Experienced operators have a higher success rate and a lower complication rate. The decreasing number of prenatal...

  10. Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.

    Science.gov (United States)

    Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M

    2015-01-01

    We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C>T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C>T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X(c.508C>T)in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.

  11. Automatic Differential Diagnosis of Melanocytic Skin Tumors Using Ultrasound Data.

    Science.gov (United States)

    Andrėkutė, Kristina; Linkevičiūtė, Gintarė; Raišutis, Renaldas; Valiukevičienė, Skaidra; Makštienė, Jurgita

    2016-12-01

    We describe a novel automatic diagnostic system based on quantitative analysis of ultrasound data for differential diagnosis of melanocytic skin tumors. The proposed method has been tested on 160 ultrasound data sets (80 of malignant melanoma and 80 of benign melanocytic nevi). Acoustical, textural and shape features have been evaluated for each segmented lesion. Using parameters selected according to Mahalanobis distance and linear support vector machine classifier, we are able to differentiate malignant melanoma from benign melanocytic skin tumors with 82.4% accuracy (sensitivity = 85.8%, specificity = 79.6%). The results indicate that high-frequency ultrasound has the potential to be used for differential diagnosis of melanocytic skin tumors and to provide supplementary information on lesion penetration depth. The proposed system can be used as an additional tool for clinical decision support to improve the early-stage detection of malignant melanoma. Copyright © 2016 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.

  12. Prenatal ultrasound screening: false positive soft markers may alter maternal representations and mother-infant interaction.

    Directory of Open Access Journals (Sweden)

    Sylvie Viaux-Savelon

    Full Text Available BACKGROUND: In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. METHODOLOGY AND PRINCIPAL FINDINGS: Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction. CONCLUSION: False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.

  13. 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.

  14. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

    Directory of Open Access Journals (Sweden)

    Berrin Tezcan

    2015-01-01

    Full Text Available Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12(q34;q24,32. Partner’s brother had an unbalanced form of the translocation with severe learning disability. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound and microarray analysis. Ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril, and hyperechogenic bowel. Genome-wide array analysis and cytogenetic results from the amniotic fluid showed unbalanced translocation in chromosomes 7 and 12 with deletion of an approximately 16.5 Mb and a duplication of 6.1 Mb, respectively, Arr 7q34q36.3(142,668,576-159,161,648x1,12q24.32q24.33(127,708,720-133,777,560x3, karyotype (der (7 t(7;12 (q34;q24pat. This unbalanced translocation was due to the segregation of the father’s balanced translocation. In this particular case, the recurrence of an unbalanced translocation in the subsequent pregnancies is estimated to be 20%. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes.

  15. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid.

    Science.gov (United States)

    Zhang, Yao; Yang, Yan-ling; Hasegawa, Yuki; Yamaguchi, Seiji; Shi, Chun-yan; Song, Jin-qing; Sayami, Sujan; Liu, Ping; Yan, Rong; Dong, Jin-hua; Qin, Jiong

    2008-02-05

    Methylmalonic aciduria (MMA) is the most frequent disease of organic aciduria in China. Various biochemical strategies are followed for the prenatal diagnosis of MMA. However, since fetuses affected by MMA have decreased excretion of methylmalonic acid, the difficulties of prenatal biochemical diagnosis are obvious. Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses. The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA. The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated. Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16 - 24 weeks of gestation. Methylmalonic acid and methylcitric acid were measured by GC/MS, propionylcarnitine was analyzed by ESI/MS/MS, and total homocysteine was determined by fluorescence polarization immunoassay. In two pregnancies, high levels of methylmalonic acid, methylcitric acid, propionylcarnitine, and total homocysteine indicated combined MMA and homocysteinemia in the fetuses. One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment, and the other terminated her pregnancy. In one pregnancy, significantly elevated levels of methylmalonic acid, methylcitric acid, and propionylcarnitine, and normal level of total homocysteine was found indicating isolated MMA in the fetus; abortion was performed on this case. In the other six pregnancies, all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine. The metabolic abnormalities of MMA occur early in gestation. The level of total

  16. Ultrasound Diagnosis of Bilateral Quadriceps Tendon Rupture After Statin Use

    Directory of Open Access Journals (Sweden)

    Nesselroade, Ryan D

    2010-09-01

    Full Text Available Simultaneous bilateral quadriceps tendon rupture is a rare injury. We report the case of bilateral quadriceps tendon rupture sustained with minimal force while refereeing a football game. The injury was suspected to be associated with statin use as the patient had no other identifiable risk factors.The diagnosis was confirmed using bedside ultrasound. [West J Emerg Med. 2010; 11(4:306-309.

  17. Endoscopic ultrasound for the diagnosis of chronic pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Tyler; Stevens; Mansour; A; Parsi

    2010-01-01

    Endoscopic ultrasound(EUS) has become a well accepted test for the diagnosis of chronic pancreatitis.Advantages include its ability to detect subtle and severe changes of the pancreatic duct and parenchyma,and its relative safety compared with endoscopic retrograde cholangiopancreatography.Limitations include inter-and intraobserver variability,operator dependence,and an incomplete understanding of its true accuracy.The Rosemont classif ication has recently been proposed as a weighted,standardized method th...

  18. Three-dimensional ultrasound imaging for diagnosis of urethrovaginal fistula.

    Science.gov (United States)

    Quiroz, Lieschen H; Shobeiri, S Abbas; Nihira, Mikio A

    2010-08-01

    We present a novel technique for visualization of a urethrovaginal fistula. A 52-year-old patient presented with persistent urinary incontinence, after having three mid-urethral sling procedures performed within the past year. The diagnosis of a urethrovaginal fistula was made by endovaginal 3-D endovaginal ultrasound and confirmed intraoperatively. We have described a novel technique that may benefit patients with urethrovaginal fistulas that are difficult to visualize.

  19. [Current indications for invasive prenatal diagnosis. New proposals based on the experience of Institute Nacional de Perinatología].

    Science.gov (United States)

    Fernández-Hernández, Liliana; Domínguez-Castro, Mauricio; Ibañez-Salvador, Juan Carlos; Grether-González, Patricia; Aguinaga-Ríos, Mónica

    2013-08-01

    Invasive prenatal diagnosis (IPD) allows identification of fetal diseases, mainly aneuploidy. With the addition of first-trimester prenatal screening and structural ultrasound, IPD indications have changed. To describe the current indications for IPD in pregnant patients at INPer. Descriptive and retrospective study. We reviewed medical records of patients in which IPD was performed during a period of 2.5 years. A total of 339 studies were performed: 81% by amniocentesis (AC), 13% by chorionic villus sampling (CVS) and 6% by cordocentesis or somatocentesis. The most common indications for AC were: advanced maternal age (AMA) (43%), fetuses with multiple defects by ultrasonido (23%) and presence of soft markers for aneuploidies (9%). For CVS were: cystic hygroma (24%). Increased nuchal translucency (NT) (24%), and AMA (18%). When the indication was only AMA, 1.5% of fetus presented aneuploidy. In women under 38 years and normal ultrasoud, chromosomal abnormalities were not detected. The increased NT in women 35 years it increased to 33%. We observed that the group who had normal translucencia nucal and AMA presented a low risk of chromosomal abnormalities. In the presence of an increased NT, 33% of fetuses were affected, so that measuring TN is considered the best non invasive PD tool. The average age with cytogenetic abnormalities was above 38 years, so we suggest to offer IPD in women above 38 years-old.

  20. Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

    NARCIS (Netherlands)

    Garne, E

    Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

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

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2017-03-01

    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 neonatal outcome.

  2. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

    DEFF Research Database (Denmark)

    László, Aranka; Endreffy, Emoke; Tümer, Zeynep

    2010-01-01

    from MD and prenatal diagnosis was done in this MD loaded family. METHOD: The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14...

  3. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts

    NARCIS (Netherlands)

    Ensing, S.; Kleinrouweler, C. E.; Maas, S. M.; Bilardo, C. M.; Van der Horst, C. M. A. M.; Pajkrt, E.

    2014-01-01

    Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL +/- P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diag

  4. Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.

    Science.gov (United States)

    Meryash, D L; Abuelo, D

    1988-05-01

    The genetic counseling need of 32 women of normal intelligence at-risk for having children with the fragile-X syndrome (FXS) were determined by a questionnaire study which included assessment of their attitudes toward prenatal diagnosis and the option of pregnancy termination. Eighteen (56%) of the women had one or more children with the FXS and 14 (44%) had no affected children. Twenty-six (81%) of the subjects stated that they would choose to have prenatal diagnosis and 9 (28%) indicated they would terminate an affected pregnancy. There was no significant difference between women who had affected children and those who did not have affected children, nor between Catholics and non-Catholics regarding acceptance of prenatal diagnosis. Catholic women were less likely to consider pregnancy termination than non-Catholics, but the majority of subjects (56%) were unsure what they would do if a fetus they were carrying was found to be affected. Issues the subjects considered most important for discussion with a genetic counselor included: 1) availability of treatment, 2) risk for having an affected grand child, 3) expectations for future functioning of affected children, and 4) availability of prenatal diagnosis.

  5. [Prenatal diagnosis and postpartal therapy of a rare sequela of gastroschisis: short bowel syndrome].

    Science.gov (United States)

    Wunsch, M; Pompino, H J

    1991-01-01

    Report about a rare complication of gastroschisis by early volvalus. Following this occasionally the prenatal diagnosis there was a very ultrasonogram of a mostly solid tumour before the abdominal wall. The postpartal operative therapy with resection and later doubling according to Bianchi B described.

  6. 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...

  7. Ultrasound introscopic image quantitative characteristics for medical diagnosis

    Science.gov (United States)

    Novoselets, Mikhail K.; Sarkisov, Sergey S.; Gridko, Alexander N.; Tcheban, Anatoliy K.

    1993-09-01

    The results on computer aided extraction of quantitative characteristics (QC) of ultrasound introscopic images for medical diagnosis are presented. Thyroid gland (TG) images of Chernobil Accident sufferers are considered. It is shown that TG diseases can be associated with some values of selected QCs of random echo distribution in the image. The possibility of these QCs usage for TG diseases recognition in accordance with calculated values is analyzed. The role of speckle noise elimination in the solution of the problem on TG diagnosis is considered too.

  8. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation.

    Science.gov (United States)

    Balakumar, K; Misha, K

    2010-07-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  9. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    OpenAIRE

    Balakumar K; Misha K

    2010-01-01

    The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle) is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  10. Ectopia cordis with endocardial cushion defect: Prenatal ultrasonographic diagnosis with autopsy correlation

    Directory of Open Access Journals (Sweden)

    Balakumar K

    2010-01-01

    Full Text Available The prenatal ultrasonographic diagnosis of ectopia cordis associated with a complex intra-cardiac defect (common atrium, common atrioventricular valve with single ventricle is illustrated in a 32-week gestation fetus. The fetus showed associated features of amniotic band disruption sequence. The cardiac autopsy findings correlated with the antenatal diagnosis. The association of ectopia cordis with amniotic band disruption is rare and infrequently reported in literature.

  11. Cell-free fetal DNA in maternal plasma and noninvasive prenatal diagnosis

    OpenAIRE

    Ester Silveira Ramos

    2006-01-01

    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. O...

  12. Molecular Endoscopic Ultrasound for Diagnosis of Pancreatic Cancer

    Energy Technology Data Exchange (ETDEWEB)

    Bournet, Barbara [Department of Gastroenterology, University Hospital Center Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9 (France); INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Pointreau, Adeline; Delpu, Yannick; Selves, Janick; Torrisani, Jerome [INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Buscail, Louis, E-mail: buscail.l@chu-toulouse.fr [Department of Gastroenterology, University Hospital Center Rangueil, 1 avenue Jean Poulhès, TSA 50032, 31059 Toulouse Cedex 9 (France); INSERM U1037, University Hospital Center Rangueil, Toulouse (France); Cordelier, Pierre [INSERM U1037, University Hospital Center Rangueil, Toulouse (France)

    2011-02-24

    Endoscopic ultrasound-guided fine needle aspiration-biopsy is a safe and effective technique in diagnosing and staging of pancreatic ductal adenocarcinoma. However its predictive negative value does not exceed 50% to 60%. Unfortunately, the majority of pancreatic cancer patients have a metastatic and/or a locally advanced disease (i.e., not eligible for curative resection) which explains the limited access to pancreatic tissue specimens. Endoscopic ultrasound-guided fine needle aspiration-biopsy is the most widely used approach for cytological and histological material sampling in these situations used in up to two thirds of patients with pancreatic cancer. Based on this unique material, we and others developed strategies to improve the differential diagnosis between carcinoma and inflammatory pancreatic lesions by analysis of KRAS oncogene mutation, microRNA expression and methylation, as well as mRNA expression using both qRT-PCR and Low Density Array Taqman analysis. Indeed, differentiating pancreatic cancer from pseudotumoral chronic pancreatitis remains very difficult in current clinical practice, and endoscopic ultrasound-guided fine needle aspiration-biopsy analysis proved to be very helpful. In this review, we will compile the clinical and molecular advantages of using endoscopic ultrasound-guided fine needle aspiration-biopsy in managing pancreatic cancer.

  13. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome.

    Science.gov (United States)

    Méndez-Rosado, L A; Hechavarría-Estenoz, D; de la Torre, M E; Pimentel-Benitez, H; Hernández-Gil, J; Perez, B; Barrios-Martínez, A; Morales-Rodriguez, E; Soriano-Torres, M; Garcia, M; Suarez-Mayedo, U; Cedeño-Aparicio, N; Blanco, I; Díaz-Véliz, P; Vidal-Hernández, B; Mitjans-Torres, M; Miñoso, S; Alvarez-Espinosa, D; Reyes-Hernández, E; Angulo-Cebada, E; Torres-Palacios, M; Lozano-Lezcano, L; Lima-Rodriguez, U; Mayeta, M; Noblet, M; Benítez, Y; Lardoeyt-Ferrer, R; Yosela-Martin, S; Carbonell, P; Pérez-Ramos, M; de León, N; Perez, M; Carbonell, J

    2014-11-01

    To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular emphasis on indications, abnormal results, types of invasive procedures, and terminations of pregnancy. Cytogenetic prenatal diagnostic analyses (n = 75,095) were conducted; maternal age was the indication for 77.9% of the amniocenteses and chorionic villus samplings. The detection rate of chromosomally abnormal pregnancies was 2.3% for maternal age and increased to 8-9% for other indications. When a chromosomal abnormality was identified, 88.5% terminated the pregnancy. In 2002, the live birth prevalence of Down syndrome was 8.4 per 10,000 live births, and in 2012, 7 per 10,000. Prenatal diagnosis in Cuba has contributed to a significant reduction in chromosomal aberrations. The impact increased because of the demographic trends of the population, the high index of terminations of pregnancy, and the establishment of a network of cytogenetic laboratories throughout Cuba. © 2014 John Wiley & Sons, Ltd.

  14. The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

    Science.gov (United States)

    Mowery-Rushton, P A; Stadler, M P; Kochmar, S J; McPherson, E; Surti, U; Hogge, W A

    1997-03-01

    Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was used to enumerate the number of interphase cells containing the isochromosome. The results of these studies illustrate the importance of the use of interphase FISH to detect the presence of the i(12p) in uncultured, non-dividing cells. A review of the literature identified 23 additional cases of Pallister-Killian syndrome diagnosed prenatally. Approximately 50 per cent of these cases were associated with the presence of a congenital diaphragmatic hernia. We suggest that a perinatal-lethal form of Pallister-Killian syndrome is underdiagnosed and recommend that all cases of prenatally detected diaphragmatic hernia be tested for Pallister-Killian syndrome using interphase FISH on uncultured amniocytes.

  15. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    Science.gov (United States)

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  16. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    Science.gov (United States)

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  17. Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France); Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert [Trousseau Hospital, University Hospitals of the East of Paris, Department of Radiology, Paris (France); Cormier-Daire, Valerie [Paris Descartes University, Sorbonne Paris Cite, Necker-Enfants-Malades Hospital, Department of Genetics, Paris (France)

    2014-03-15

    Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing. (orig.)

  18. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    Science.gov (United States)

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  19. Elevated Intracranial Pressure Diagnosis with Emergency Department Bedside Ocular Ultrasound

    Directory of Open Access Journals (Sweden)

    D. Amin

    2015-01-01

    Full Text Available Bedside sonographic measurement of optic nerve sheath diameter can aid in the diagnosis of elevated intracranial pressure in the emergency department. This case report describes a 21-year-old female presenting with 4 months of mild headache and 2 weeks of recurrent, transient binocular vision loss. Though limited by patient discomfort, fundoscopic examination suggested the presence of blurred optic disc margins. Bedside ocular ultrasound (BOUS revealed wide optic nerve sheath diameters and bulging optic discs bilaterally. Lumbar puncture demonstrated a cerebrospinal fluid (CSF opening pressure of 54 cm H2O supporting the suspected diagnosis of idiopathic intracranial hypertension. Accurate fundoscopy can be vital to the appropriate diagnosis and treatment of patients with suspected elevated intracranial pressure, but it is often technically difficult or poorly tolerated by the photophobic patient. BOUS is a quick and easily learned tool to supplement the emergency physician’s fundoscopic examination and help identify patients with elevated intracranial pressure.

  20. Cell-free fetal DNA in amniotic fluid supernatant for prenatal diagnosis.

    Science.gov (United States)

    Soltani, M; Nemati, M; Maralani, M; Estiar, M A; Andalib, S; Fardiazar, Z; Sakhinia, E

    2016-04-30

    In widespread conviction, amniotic fluid is utilized for prenatal diagnosis. Amniotic fluid supernatant is usually discarded, notwithstanding being a good source of fetal DNA. The aim of the present study was to assess cell-free fetal DNA extracted from amniotic fluid supernatant for application in prenatal diagnosis such as gender determination and early diagnosis of β-thalassemia. Samples of amniotic fluid of 70 pregnant women were collected and went through routine tests along with tests for cell-free fetal DNA from amniotic fluid supernatant. The DNA in the amniotic fluid supernatant was extracted and analyzed for gender determination by PCR and Real-time PCR. ARMS-PCR was applied to test early diagnosis of IVS II-I mutation (common β-thalassemia mutation) and E7V mutation for sickle cell anemia using DNA extracted from the amniotic fluid supernatant. Using the cell-free fetal DNA extracted from the amniotic fluid supernatant, the sensitivity of PCR and Real-time PCR for gender detection was compared with the routine cytogenetic method. The fetus tested for sickle cell anemia and β-thalassemia was observed to be healthy but heterozygous for IVS II-I mutation. The findings indicated that cell-free fetal DNA from amniotic fluid supernatant can be a good source of fetal DNA and be used in early prenatal diagnosis since because of its fast and accurate application. Therefore, it would be suggested that the amniotic fluid supernatant's disposal is prevented because if the tests needs to be repeated, cell-free fetal DNA extracted from the amniotic fluid supernatant can be used as an alternative source for prenatal diagnosis.

  1. 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.

  2. Diagnosis of peripheral pulmonary carcinoid tumor using endobronchial ultrasound

    Directory of Open Access Journals (Sweden)

    Steinfort Daniel

    2008-01-01

    Full Text Available A 51-year-old woman with severe asthma underwent bronchoscopy and endobronchial ultrasound (EBUS for investigation of a 15-mm peripheral lung nodule. Histology demonstrated a typical carcinoid tumor. Pulmonary location is the second commonest site for carcinoid tumors. Diagnosis of peripheral carcinoid tumor of the lung is difficult due to its small size, poor accuracy of cytologic diagnosis, and low sensitivity of positron emission tomography in detecting it. EBUS has a high diagnostic yield and a low complication rate in the evaluation of small solitary pulmonary nodules. The ultrasound appearance of carcinoid tumors is identical to that of lung carcinomas. Prompt diagnosis of carcinoid tumor is desirable as regional lymph node metastasis is seen in 10% of patients and is associated with a reduced 5-year survival. We feel that, where possible, all patients presenting with solitary pulmonary nodules should be investigated initially using EBUS due to its high diagnostic rate and the very low incidence of adverse events.

  3. Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome

    Directory of Open Access Journals (Sweden)

    Hsing-Fen Tsai

    2014-06-01

    Conclusion: Rare syndromes like MKS may need early comprehensive evaluations and consultations. Although prenatal diagnosis might be impossible for MKS, prenatal awareness by fetal ultrasound is very helpful to assist early management and maternal transfer. The final diagnosis and appropriate management of MKS requires the collaboration of obstetricians, geneticists, pediatricians, and ophthalmologists as soon as abnormal signs are detected in utero.

  4. The mechanism of fetal spina bifida and clinical value of ultrasound diagnosis%胎儿脊柱裂发生机制及超声诊断临床价值

    Institute of Scientific and Technical Information of China (English)

    农有弟; 陈丽荣; 刘晚秋; 赵敏

    2013-01-01

    Objective To explore the mechanism of fetal spina bifida and ultrasonography manifestation. To enhance the recognition of prenatal ultrasound in this deformity. Methods The ultrasound manifestation of fourteen cases of hospitalized prenatal spina bifida were analyzed. All these data were compared with radiographic data. All these patients were demonstrated by pathology or radiographic data. The ultrasound characteristics were summarized. Results 14 spina bifida cases were diagnosed by prenatal ultrasound diagnosis including 12 cases with dominant spina bifida, 2 cases with recessive spina bifida. Ultrasonography of fetal spina bifida has a characteristic. Prenatal sonographic made a correct diagnosis of all 14 cases. The diagnostic accordance rate of ultrasound diagnosis is 100%. Conclusion Prenatal ultrasound examination can diagnose accurately fetal spina bifida, which is a reliable clinical application value.%目的 探讨胎儿脊柱裂发生机制及超声表现,分析产前超声对此类畸形的诊断价值.方法 回顾性分析14例产前诊断为胎儿脊柱裂的超声表现,并经引产或生产后放射影像学资料对比证实,总结其声像图特点.结果 产前超声诊断脊柱裂14例,其中12例显性脊柱裂,2例隐性脊柱裂.胎儿脊柱裂的超声表现具有特征性.超声诊断与产后诊断符合率达100%.结论 产前超声检查可以准确地诊断胎儿脊柱裂,具有可靠临床应用价值.

  5. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    Science.gov (United States)

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  6. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    Directory of Open Access Journals (Sweden)

    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  7. 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

    Science.gov (United States)

    Wheeler, M; Peakman, D; Robinson, A; Henry, G

    1988-03-01

    The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.

  8. Errors and mistakes in the ultrasound diagnosis of the pancreas.

    Science.gov (United States)

    Ćwik, Grzegorz; Gierbliński, Ireneusz W

    2013-06-01

    The differential diagnosis of the focal lesions in the region of the pancreas is difficult due to the similarity of clinical and radiological pictures of neoplastic and non-neoplastic lesions. This paper presents the most common causes of errors in ultrasound diagnosis of pancreatic pathologies. Attention was paid to the errors resulting from the structural variants of the pancreas and those caused by the neighborhood of intestine, stomach and other organs or vessels. Moreover, the article presents mistakes in the interpretation of ultrasound images of normal pancreas as well as its inflammatory and neoplastic lesions. The errors and mistakes in question were divided into three categories: 1) mistakes related to the anatomical structure of the pancreas (anatomical variants, echostructure and echogenicity, course of the splenic artery); 2) mistakes related to anatomical structures localized in the vicinity of the pancreas (caudate lobe of the liver, other organs and intestinal loops surrounding the head of the pancreas, vessels and bile ducts, lymph nodes in the region of the pancreas or duodenal diverticula and tumors); 3) mistakes related to the pathologies of the pancreas (inflammatory and neoplastic lesions including differentiation between inflammatory tumors and malignant masses). In spite of the progress of imaging techniques, the differential diagnosis of focal solid lesions remains the prime problem of imaging examinations of the pancreas. The major aim of the ultrasound examination is early detection of pancreatic neoplasm. Improper performance of the examination or a failure to perform a repeated scan when the conditions for the assessment of the pancreas are not favorable or, what is worse, description of normal pancreas when it is not clearly and entirely visible, constitute errors.

  9. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus

    Directory of Open Access Journals (Sweden)

    Yavuz Köker m

    2009-03-01

    Full Text Available Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS. Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR assay. Our studies predicted that the fetus in question was not affected by chronic granulomatous disease, which was demonstrated to be correct at birth. For prenatal screening in a pregnant X-CGD carrier, direct sequencing is a good method for detecting the mutation in the fetal DNA. Postnatal confirmation of results with the DHR assay is more practical than mutation screening to show whether the newborn have normal NADPH oxidase activity or does not.

  10. Muscle ultrasound imaging in the diagnosis of amyotrophic lateral sclerosis

    Directory of Open Access Journals (Sweden)

    Yu. N. Rushkevich

    2014-01-01

    Full Text Available Amyotrophic lateral sclerosis (ALS is the most common form of motor neuron disease. This pathology is characterized by the involvement of central and peripheral motor neurons in the pathological process. One  f the specific symptoms of ALS is fasciculations - involuntary muscle contractions that may occasionally precede the development of muscle weakness and atrophies. This paper summarizes the accumulated practical experience in using muscle ultrasound study in the diagnosis of fasciculations and their prevalence as an early sign of anterior corneal lesion in ALS.

  11. Diagnosis of gallbladder problems using three-dimensional ultrasound.

    Science.gov (United States)

    Stenberg, Ben; Elliott, Simon

    2010-04-01

    The purpose of this study was to determine whether offline reported three-dimensional ultrasound (3DUS) is as accurate as standard two-dimensional ultrasound (2DUS) with regard to demonstrating gallbladder disease. The cohort comprised 80 consecutive patients referred for an abdominal ultrasound examination. The participants underwent routine 2DUS assessment of the gallbladder followed by the acquisition of two 3DUS volumes of the region of the gall bladder. The two techniques were reported independently of each other, and the diagnoses were compared for correlation. There was overall agreement of the two techniques in 89% of cases with a positive predictive value of 89%, negative predictive value of 91% and a specificity of 86%. Small polyps (sub-4 mm) were the only positive discrepancies. Cohen's kappa found that there was substantial agreement between the two techniques (p = 0.05 for a two-tailed kappa 0.67), and chi-squared test found no significant difference in diagnoses (p = 0.95). This study shows that 3DUS diagnosis correlates well with 2DUS with regard to most gallbladder problems and could be sufficient as a stand-alone technique.

  12. Integrated ultrasound and gamma imaging probe for medical diagnosis

    Science.gov (United States)

    Pani, R.; Pellegrini, R.; Cinti, M. N.; Polito, C.; Orlandi, C.; Fabbri, A.; De Vincentis, G.

    2016-03-01

    In the last few years, integrated multi-modality systems have been developed, aimed at improving the accuracy of medical diagnosis correlating information from different imaging techniques. In this contest, a novel dual modality probe is proposed, based on an ultrasound detector integrated with a small field of view single photon emission gamma camera. The probe, dedicated to visualize small organs or tissues located at short depths, performs dual modality images and permits to correlate morphological and functional information. The small field of view gamma camera consists of a continuous NaI:Tl scintillation crystal coupled with two multi-anode photomultiplier tubes. Both detectors were characterized in terms of position linearity and spatial resolution performances in order to guarantee the spatial correspondence between the ultrasound and the gamma images. Finally, dual-modality images of custom phantoms are obtained highlighting the good co-registration between ultrasound and gamma images, in terms of geometry and image processing, as a consequence of calibration procedures.

  13. Evaluating the culture of fetal erythroblasts from maternal blood for non-invasive prenatal diagnosis.

    Science.gov (United States)

    Chen, H; Griffin, D K; Jestice, K; Hackett, G; Cooper, J; Ferguson-Smith, M A

    1998-09-01

    Fetal erythroblasts circulating in maternal blood are important candidate cells for non-invasive prenatal diagnosis. We have cultured erythroblasts from 16 maternal blood samples, both with and without prior enrichment by magnetic activated cell sorting (MACS), in a semi-solid medium containing growth factors. Individual colonies were examined by PCR with sex chromosome-specific primers and microsatellite marker primers. No conclusive Y-chromosome specific amplification could be demonstrated in any of the 16 cases, even when the mother was confirmed to be carrying a male fetus. All colonies tested by microsatellite marker PCR were of maternal origin. Our results suggest that the probability of obtaining fetal colonies from fetal erythroblasts circulating in maternal blood is very low and that approaches for culturing fetal erythroblasts in vitro cannot yet be used reliably for prenatal diagnosis using current methods for fetal cell enrichment.

  14. [Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

    Science.gov (United States)

    Cuillier, F; Testud, R; Samperiz, S; Fossati, P

    2002-11-01

    Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

  15. Noninvasive Prenatal Diagnosis of Fetal Sex by Single-cell PEP-PCR Method

    Institute of Scientific and Technical Information of China (English)

    王陶然; 陈汉平; 马庭元

    2004-01-01

    Summary: A new method for noninvasive prenatal diagnosis of fetal sex was developed by using single-cell PEP-PCR techniques. Micromamipulation techniques were used to obtain single fetal cells from 273 maternal blood samples. The genome of single cells was preamplified by PEP and SRY genes were analyzed by PCR method. The SRY genes of 149 samples were detected by the new method among 153 samples carrying male fetus, while 119 out of 120 samples carrying female fetus were proved negative for SRY genes. The sensitivity and specificity of the new method were 97.39% and 99.17 % respectively and the correct rate was 98.17 %. The new method has the advantage of high sensitivity and specificity in noninvasive prenatal diagnosis of fetal sex and provides the basis of other researches such as sex-linked inherited diseases.

  16. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    Science.gov (United States)

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  17. Duplication cysts: Diagnosis, management, and the role of endoscopic ultrasound.

    Science.gov (United States)

    Liu, Roy; Adler, Douglas G

    2014-07-01

    Gastrointestinal tract duplication cysts are rare congenital gastrointestinal malformation in young patients and adults. They consist of foregut duplication cysts, small bowel duplication cysts, and large bowel duplication cysts. Endoscopic ultrasound (EUS) has been widely used as a modality for the evaluation and diagnosis of duplication cysts. EUS is the diagnostic tool of choice to investigate duplication cysts since it can distinguish between solid and cystic lesions. The question of whether or not to perform EUS-fine needle aspiration (EUS-FNA) on a lesion suspected of being a duplication cyst is controversial as these lesions can become infected with significant consequences, although EUS-FNA is often required to obtain a definitive diagnosis and to rule out more ominous lesions. This manuscript will review the literature on duplication cysts throughout the body and will also focus on the role of EUS and FNA with regards to these lesions.

  18. Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy

    Science.gov (United States)

    Kolarski, Milenko; Ahmetovic, Begzudin; Beres, Maja; Topic, Radomir; Nikic, Vedran; Kavecan, Ivana; Sabic, Semin

    2017-01-01

    Introduction: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks’, 1 in 30,000 at 16 weeks’, and 1 in 250,000 at 20 weeks’ gestation. Case report: We present a case of second-trimester triploidy diagnosed prenataly at our center. 28-years-old gravida with a first spontaneous pregnancy had early gestational hypertension. Ultrasound examination in 146/7 weeks’ gestation revealed asymmetric intrauterine growth retardation. We recommended biochemical maternal serum screening during second trimester of pregnancy (AFP, HCG, uE3). Result of biochemical screening was indication for cytogenetic analysis from amniotic fluid cells and we recommended early amniocentesis in 156/7 weeks’ gestation. Result showed abnormal karyotype of the fetus (69,XXX triploidy), and DNA analysis confirmed Type-2 Diginy. Parents decided to terminate this pregnancy, and it was done at 22 weeks’ gestation. Conclusion: We emphasize the importance of non-invasive prenatal exminationes-biochemical serum screening during second trimester of pregnancy, and ultrasound examinations in prenatal screening of syndroma Down and other chromosomal abnormalities. PMID:28790549

  19. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India.

    Science.gov (United States)

    Tamhankar, Parag M; Agarwal, Sarita; Arya, Vandana; Kumar, Ravindra; Gupta, U R; Agarwal, S S

    2009-01-01

    To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India. Premarital testing for thalassemia carrier state was carried out in (1) extended family members (EFM) of diagnosed cases of thalassemia/hemoglobinopathies, (2) unmarried adult cases of anemia attending the hospitals' outpatient department (OPD) and (3) adult college students (CG). Hemoglobin, red cell indices were measured by a cell counter and hemoglobin fractionation was carried out by high performance liquid chromatography (HPLC). In cases with HbA2>3.5%, or with variant hemoglobin, mutation screen was done by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). In high-risk prospective couples, premarital genetic counseling was done and prenatal diagnosis possibilities were explained. The yield of carriers from EFM, OPD and CG groups was 78.17% (308/394), 19.51% (263/1348) and 4.04% (38/939), respectively. The number of prospective high-risk couples detected were 154, 48 and 2 from EFM, OPD and CG, respectively. As much as 99% of prospective carrier couples married even after knowing their high-risk status and opted for prenatal diagnosis. The program averted the birth of 33 thalassemic children; 28 in EFM group (by screening of 394 individuals), 4 in the OPD group (by screening 1348 anemic patients), and 1 in CG group (by screening of 939 students). Premarital screening in extended family members, followed by prenatal diagnosis is acceptable and the most effective strategy for control of thalassemia in developing countries like India. Copyright (c) 2008 John Wiley & Sons, Ltd.

  20. [References for prenatal diagnosis of morphological defects including the central nervous system].

    Science.gov (United States)

    Blohmer, J U; Caemmerer, C D; Bollmann, R; Bartho, S

    1993-02-01

    Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

  1. Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Su, Yi-Ning; Huang, Jian-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chang, Shun-Ping; Chen, Yu-Ting; Lee, Chen-Chi; Chen, Li-Feng; Pan, Chen-Wen; Wang, Wayseen

    2013-10-15

    We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

  2. 产前超声在双胎妊娠中胎儿心脏复杂畸形中的应用%Application of Prenatal Ultrasound in Fetal Cardiac Complex Malformation in Twin Pregnancy

    Institute of Scientific and Technical Information of China (English)

    丁凤霞

    2016-01-01

    目的:分析产前超声在双胎妊娠中胎儿心脏复杂畸形中的临床价值。方法:回顾性分析我院于2012年1月~2015年1月期间经产前超声检查的双胎妊娠孕妇16例,至少有1例孕妇合并心脏复杂畸形,对孕妇产前、产后超声结果进行总结,并分析其产前漏诊原因。结果:经产后超声检查,证实本组16例孕妇均合并心脏复杂畸形的双胎,其中有11例为单绒毛膜囊双胎,有5例为双绒毛膜囊双胎。有14例孕妇经产前超声检查明确诊断,且由产后随访检查证实;有1例A型主动脉弓离断,其心脏复杂畸形多与心外畸形共存;有1例右室双出口出现漏诊,经产前诊断为室间隔缺损。结论:通过产前超声筛查,可有效诊断单绒毛膜囊双胎合并心脏复杂畸形的发生率明显高于双绒毛膜囊双胎,其具有良好的临床价值。%Objective: to analyze the clinical value of prenatal ultrasound in fetal cardiac complex malformation in twin pregnancy.Methods:a retrospective analysis of our hospital in 2012 January 2015 period in January by prenatal ultrasound examination of twin pregnancy in 16 cases, at least 1 cases of pregnant women with complex heart malformation, the prenatal and postnatal ultrasound results are summarized and and analysis of prenatal reasons for misdiagnosis.Results: multiparous after ultrasound examination, confirmed that this group of 16 cases of pregnant women were associated with cardiac malformation complex twins, of which 11 cases for sac properties of monochorionic twins, 5 cases of cystic nature of dichorionic twin pregnancy. With 14 cases pregnant women by prenatal ultrasound diagnosis and confirmed by postnatal follow-up examination;1 case of type A aortic arch interruption, the complex heart malformation with extracardiac malformations coexist; 1 case of right ventricular double outlet of missed diagnosis and prenatal diagnosis for ventricular septal defect

  3. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Background Methylmalonic aciduria (MMA )is the most frequent disease of organic aciduria in China.Various biochemical strategies are followed for the prenatal diagnosis of MMA.However,since fetuses affected by MMA have decreased excretion of methylmalonic acid,the difficulties of prenatal biochemical diagnosis are obvious.Gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS) have allowed us to identify the disease in affected fetuses.The aim of this study was to determine the value of analysis of organic acids and total homocysteine in amniotic fluid in prenatal diagnosis of MMA.Methods The clinical diagnoses and outcomes of nine probands with MMA and the prenatal diagnoses based on biochemical analysis of nine fetuses at risk for MMA were investigated.Amniotic fluid samples from pregnancies at risk for MMA and metabolically normal pregnancies were obtained at 16-24 weeks of gestation.Methylmalonic acid and methylcitric acid were measured by GC/MS,propionylcarnitine was analyzed by ESI/MS/MS,and total homocysteine was determined by fluorescence polarization immunoassay.Results In two pregnancies,high levels of methylmalonic acid,methylcitric acid,propionylcarnitine,and total homocysteine indicated combined MMA and homocysteinemia in the fetuses.One of the mothers continued pregnancy and received cobalamin supplement as prenatal treatment,and the other terminated her pregnancy.In one pregnancy,significantly elevated levels of methylmalonic acid,methylcitric acid,and propionylcarnitine,and normal level of total homocysteine was found indicating isolated MMA in the fetus;abortion was performed on this case.In the other six pregnancies,all the levels of the above mentioned metabolites were normal suggesting that the fetuses were not affected by MMA. The diagnoses were confirmed after delivery by testing urinary organic acids and plasma total homocysteine.Conclusions The metabolic abnormalities of MMA occur early in gestation.The level of

  4. 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.

  5. Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.

    Science.gov (United States)

    Goossens, M; Dumez, Y; Kaplan, L; Lupker, M; Chabret, C; Henrion, R; Rosa, J

    1983-10-06

    To investigate the usefulness of chorionic biopsy for prenatal diagnosis of sickle-cell anemia by restriction-endonuclease analysis of fetal DNA, we studied 30 pregnancies before elective abortion. When the reproducibility of the technique for obtaining adequate DNA samples was established, we successfully applied the test to five pregnancies at risk for sickle-cell anemia. In two cases, sickle-cell disease of the fetus led to a decision to terminate the pregnancy. In three other cases, a normal or AS genotype was demonstrated. One normal infant has been born, and one other pregnancy is continuing normally. In one case in which fetal death was observed three weeks after sampling, placental abnormalities found on histologic examination were compatible with a chromosomal aberration. Our study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week. If subsequent experience demonstrates this technique to be safe enough for mother and fetus, the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.

  6. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

    Directory of Open Access Journals (Sweden)

    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  7. Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population

    Directory of Open Access Journals (Sweden)

    Jila Dastan

    2011-03-01

    Full Text Available Objective:G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR has been widely used for this purpose. HHeterozygosity of short tandem repeat (STR markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. Methods:In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Findings:Most of the analyzed STRs had acceptable heterozygosity (66.3-94.7 to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods (standard karyotype and QF-PCR for all samples were in accordance with each other. Conclusion:In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians.

  8. [Eugenics' extension in the Spanish health care system through the prenatal diagnosis].

    Science.gov (United States)

    Rodríguez Martín, Esteban

    2012-01-01

    The wide implantation of strategies of sifted or prenatal selection close to laws that protect the destruction of the human life before the childbirth in the whole world, they are giving place to an increasing number of eugenic abortions. In Spain, the law 2/2010 of the sexual and reproductive health and voluntary interruption of pregnancy there has supposed the liberalization of the eugenic abortion without term limit. In we make concrete, the sanitary national and international policies of prenatal selection of Down's Syndrome, which they chase to facilitate the total or partial destruction before the childbirth of this human group, submitting it to a few particular conditions of existence during his prenatal life in those who will be an object of a series of technologies of selection, they might be qualified of genocidal policies if we consider the definition of genocide given by United Nations. In consequence, the sanitary agent who takes part without objection in the above mentioned programs promoted by the principal agents, meets turned into a necessary cooperator of the abortion who justifies itself in the supposition of "foetal risk". We can conclude that we are present at an eugenic drift of the prenatal diagnosis that is opposite to the ethical beginning of the medical profession.

  9. Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.

    Science.gov (United States)

    Morin, L R; Herlicoviez, M; Loisel, J C; Jacob, B; Feuilly, C; Stanescu, V

    1991-06-01

    Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described.

  10. 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

  11. Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

    Science.gov (United States)

    Chen, Chih-Ping; Wang, Yeou-Lih; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Chen, Li-Feng; Lee, Meng-Shan; Yang, Chien-Wen; Wang, Wayseen

    2016-04-01

    We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes. A 35-year-old woman presented with a borderline-positive result of noninvasive prenatal testing for trisomy 21. She underwent amniocentesis at 18 weeks of gestation, which revealed a karyotype of 47,XY,+21(5)/46,XY(53). Repeat amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+21(6)/46,XY(26). Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed mosaic levels of 10% to 15% for trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic level of 21.7% (28/129 cells) for trisomy 21. Following genetic counseling and detailed ultrasound examination, the parents decided to continue the pregnancy. The pregnancy was carried to term, and a normal 3664-g male baby was delivered. The cord blood lymphocytes had a karyotype of 47,XY,+21(2)/46,XY(38). Postnatal interphase FISH analysis of urine detected no trisomy 21 in all 39/39 urinary cells. The neonate was phenotypically normal at age 7 months. Low-level true mosaicism for trisomy 21 can be associated with a favorable fetal outcome. aCGH and interphase FISH analyses on uncultured amniocytes are useful for rapid confirmation of low-level true mosaicism for trisomy 21 at repeated amniocentesis. Copyright © 2016. Published by Elsevier B.V.

  12. Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction

    Energy Technology Data Exchange (ETDEWEB)

    Miyazaki, Osamu [National Centre for Child Health and Development, Department of Radiology, Tokyo (Japan); Nishimura, Gen [Tokyo Metropolitan Kiyose Children' s Hospital, Department of Radiology, Tokyo (Japan); Sago, Haruhiko; Watanabe, Noriyoshi; Ebina, Shunsuke [National Centre for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2007-11-15

    We report a case of chondrodysplasia punctata tibia-metacarpal type (CDP-TM) that was diagnosed prenatally using multidetector CT (MDCT) with three-dimensional (3-D) CT reconstructions. Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia. However, MDCT showed punctate calcifications in the epiphyseal cartilage of the humeri and femora, carpal bones, and paravertebral region. On 3-D CT, the tibiae were much shorter than the fibulae, the humeri were very short and bowed, and severe platyspondyly was evident. These findings led to the diagnosis of CDP-TM. The diagnosis was confirmed on postnatal radiographs. Prenatal MDCT with 3-D images may make a useful contribution to prenatal diagnosis in selected fetuses with severe skeletal dysplasia. (orig.)

  13. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

    Science.gov (United States)

    Nahar, Risha; Puri, Ratna D; Saxena, Renu; Verma, Ishwar C

    2013-01-01

    Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.

  14. Histoscanning and shear wave ultrasound elastography for prostate cancer diagnosis

    Directory of Open Access Journals (Sweden)

    A. V. Amosov

    2016-01-01

    Full Text Available Introduction. The shear wave ultrasound elastography is a recently developed ultrasound-based method in the clinical practice, which allows the qualitative visual and quantitative measurements of tissue stiffness. In the 2010 this technology of the shear wave was called Shear Wave Elastograhpy. Due to the front of the shear waves the qualitative and quantitative assessment of the tissue stiffness is possible.Objective is to examine the efficacy of the shear wave ultrasound elastography in the evaluation of the prevalence of the oncological disease in patients with the prostate cancer and to compare the obtained results with the routine method X-ray diagnostics.Materials and methods. From the april 2015 in the I.M. Sechenov First Moscow State Medical University Urology Clinic there were conducted 314 shear wave ultrasound elastography examinations of the prostate. The ultrasound system Aixplorer® by SuperSonic Imagine was used. This system provides information provided by B-mode and shear wave ultrasound elastography mode. The transrectal echograms were made in 6 dimensions, so called Q-boxes (3 demensions in the every lobe on the segments from the base to the apex, according to the biopsy zone. The unit of measurement was the mean value in the kilopaskals (kPa. All the patients were randomized into 3 groups. There were 146 men with the possible prostate cancer in the first group (prospective study, 120 men with the certain diagnosis of the prostate cancer in the second group (retrospective study and 48 healthy men in the third group (control study. In all the patients of the first and the second groups the routine complete examination, including the prostate specific antigen (PSA level examination, digital rectal examination (DRE, doppler transrectal ultrasonography (TRUS, histoscanning and ultrasound shear wave elastography (SWE, was conducted. In the 229 patients of the first and the second groups the prostatectomy with the

  15. 胎儿结构畸形产前超声诊断分析%Prenatal ultrasound assessment for fetal structural abnormalities

    Institute of Scientific and Technical Information of China (English)

    王凤兰; 王建华; 张云亭; 寇世和; 易建平; 杜明桢; 张伟; 周钰昆

    2015-01-01

    Objective To investigate the diagnostic value of prenatal ultrasound for fetal structural abnormalities.Methods The clinical data of 3 101 fetus with structural malformations, diagnosed by prenatal ultrasound and confi rmed after induced labor, and 856 cases of missed diagnosis were analyzed. All these data were collected in Maternal and Child Health Hospital of Tangshan City from January 2010 to June 2014. The types and number of fetal structural abnormalities were recorded. The rates of detection and missed diagnosis for the fetal structural abnormalities were calculated and the reasons for missed diagnosis were analyzed.ResultsA total of 3101 cases (4 171 positions) were diagnosed as fetal structural abnormalities by prenatal ultrasound. The detection rate was 11.51‰ (3 101/269 501). There were 856 cases (947 positions) of fetal structural abnormalities were missed, and the missed diagnosis rate was 3.18‰ (856/269 501). The incidence of fetal structural abmormalities was 14.68‰ (3 957/269 501). In terms of anatomy systems, the top five were cardiovascular system abnormalities (851 cases), the central nervous system abnormalities (691 cases), facial abnormalities (562 cases), urinary system abnormalities (476 cases), and respiratory system abnormalities (134 cases). In terms of single abnormalities, the top five were cleft lip and palate (549 cases), ventricular septal defect (519 cases), hydronephrosis (331 cases), spina bifi da (212 cases), and atrial-ventricular septal defect (163 cases). The top five of missed deformities were polydactylia/symphysodactylia (285 cases), ear deformities (108 cases), hypospadias (93 cases), foot abnormalities (92cases), and ventricular septal defect (52 cases).Conclusions There is a high detection rate for fetal structural abnormalities with prenatal ultrasound. Prenatal ultrasound is an indispensable means for the diagnosis of fetal malformation, but it also has some limitations. There is a high rate of missed diagnosis

  16. 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)

  17. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

    Directory of Open Access Journals (Sweden)

    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

  18. Application progress of prenatal ultrasound in twin-twin transfusion syndrome%产前超声检查在双胎输血综合征中的应用进展

    Institute of Scientific and Technical Information of China (English)

    蒋瑜; 杨太珠

    2012-01-01

    Twin-twin transfusion syndrome (TITS) is a potentially seriouscomplication of monochorionic twin pregnancies, with high incidence and poor prognosis. As the main means of prenatal examination, ultrasonography is useful for early detection, diagnosis and treatment of TITS and it can improves the quality of life of perinatal infante- This article reviews the application progress of prenatal ultrasound in TITS.%双胎输血综合症(TTTS)是单绒毛膜双胎的一种严重并发症,其发病率较高,预后较差.超声作为产前检查的主要手段,能够早期发现、诊断,并及时治疗,从而提高围产儿的生存质量,本文就产前超声检查在TTTS的应用进展做一综述.

  19. Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

    Science.gov (United States)

    Lalatta, Faustina; Quagliarini, Donatella; Folliero, Emanuela; Cavallari, Ugo; Gentilin, Barbara; Castorina, Pierangela; Forzano, Francesca; Forzano, Serena; Grosso, Enrico; Viassolo, Valeria; Naretto, Valeria Giorgia; Gattone, Stefania; Ceriani, Florinda; Faravelli, Francesca; Gargantini, Luigi

    2010-10-01

    We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected. Clinical assessment of the child was performed by a clinical geneticist and included a detailed personal history, physical evaluation and auxological measurements. To analyse how parents coped with specific events in the prenatal and postnatal periods, we conducted an interview that included 35 specific questions designed to elicit retrospective judgements on prenatal communication, present and future worries, needs and expectations. In a subset of probands, we also administered the formal Italian Temperament Questionnaire assessment test that investigates adaptation, general environment and socialisation. This test also assesses the emotional component of temperament. Clinical results in the affected children are similar to those previously reported with evidence of increased growth in the pre-puberal age and an average incidence of congenital malformation and health needs. Median age for the time first words were pronounced was 12 months, showing a slight delay in language skills, which tended to improve by the time they reached school age. Parental responses to the interview demonstrated residual anxiety but with a satisfactory adaptation to and a positive recall of the prenatal counselling session. Parental adaptation of the 47,XXX girls require indeed a proper educational support. This support seems to be available in Italy. An integrated approach to prenatal counselling is the best way to manage the anxiety and falsely imagined consequences that parents feel after being told that their foetus bears such a genetic abnormality.

  20. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

    Science.gov (United States)

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-04-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

  1. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

    Science.gov (United States)

    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

  2. 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

  3. [Diagnosis. Radiological study. Ultrasound, computed tomography and magnetic resonance imaging].

    Science.gov (United States)

    Gallo Vallejo, Francisco Javier; Giner Ruiz, Vicente

    2014-01-01

    Because of its low cost, availability in primary care and ease of interpretation, simple X-ray should be the first-line imaging technique used by family physicians for the diagnosis and/or follow-up of patients with osteoarthritis. Nevertheless, this technique should only be used if there are sound indications and if the results will influence decision-making. Despite the increase of indications in patients with rheumatological disease, the role of ultrasound in patients with osteoarthritis continues to be limited. Computed tomography (CT) is of some -although limited- use in osteoarthritis, especially in the study of complex joints (such as the sacroiliac joint and facet joints). Magnetic resonance imaging (MRI) has represented a major advance in the evaluation of joint cartilage and subchondral bone in patients with osteoarthritis but, because of its high cost and diagnostic-prognostic yield, this technique should only be used in highly selected patients. The indications for ultrasound, CT and MRI in patients with osteoarthritis continue to be limited in primary care and often coincide with situations in which the patient may require hospital referral. Patient safety should be bourne in mind. Patients should be protected from excessive ionizing radiation due to unnecessary repeat X-rays or inadequate views or to requests for tests such as CT, when not indicated. Copyright © 2014 Elsevier España, S.L. All rights reserved.

  4. Lung ultrasound for diagnosis of pneumonia in emergency department.

    Science.gov (United States)

    Pagano, Antonio; Numis, Fabio Giuliano; Visone, Giuseppe; Pirozzi, Concetta; Masarone, Mario; Olibet, Marinella; Nasti, Rodolfo; Schiraldi, Fernando; Paladino, Fiorella

    2015-10-01

    Lung ultrasound (LUS) in the emergency department (ED) has shown a significant role in the diagnostic workup of pulmonary edema, pneumothorax and pleural effusions. The aim of this study is to assess the reliability of LUS for the diagnosis of acute pneumonia compared to chest X-ray (CXR) study. The study was conducted from September 2013 to March 2015. 107 patients were admitted to the ED with a clinical appearance of pneumonia. All the patients underwent a CXR study, read by a radiologist, and an LUS, performed by a trained ED physician on duty. Among the 105 patients, 68 were given a final diagnosis of pneumonia. We found a sensitivity of 0.985 and a specificity of 0.649 for LUS, and a sensitivity of 0.735 and specificity of 0.595 for CXR. The positive predictive value for LUS was 0.838 against 0.7 for CXR. The negative predictive value of LUS was 0.960 versus 0.550 for CXR. This study has shown sensitivity, positive predictive value and negative predictive value of LUS compared to the CXR study for the diagnosis of acute pneumonia. These results suggest the use of bedside thoracic US first-line diagnostic tool in patients with suspected pneumonia.

  5. Elderly Woman with Abdominal Pain: Bedside Ultrasound Diagnosis of Diverticulitis

    Directory of Open Access Journals (Sweden)

    Jason D. Heiner

    2015-10-01

    Full Text Available A 72-year-old otherwise healthy female presented to the emergency department with two weeks of worsening abdominal pain. She was afebrile with normal vital signs. Her physical examination was notable for moderate abdominal tenderness without rebound to the left and suprapubic regions of the abdomen. Laboratory studies were remarkable for a white blood cell count of 13,000/mm3. A focused bedside ultrasound over the patient’s region of maximal discomfort revealed a thickened bowel wall and several small contiguous hypoechoic projections surrounding a hyperechoic center, suggestive of diverticulitis (Figure. She was given metronidazole and ciprofloxacin and her diagnosis of uncomplicated colonic diverticulitis was confirmed by computed tomography (CT.

  6. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    Science.gov (United States)

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  7. Detection of fetal mutations causing hemoglobinopathies by non-invasive prenatal diagnosis from maternal plasma

    Directory of Open Access Journals (Sweden)

    E D′Souza

    2013-01-01

    Full Text Available Background: Prenatal diagnosis of hemoglobinopathies enables couples at risk to have a healthy child. Currently used fetal sampling procedures are invasive with some risk of miscarriage. A non-invasive approach to obtain fetal deoxyribonucleic acid (DNA for diagnosis would eliminate this risk. Aim: To develop and evaluate a non-invasive prenatal diagnostic approach for hemoglobinopathies using cell-free fetal DNA circulating in the maternal plasma. Settings and Design: Couples referred to us for prenatal diagnosis of hemoglobinopathies where the maternal and paternal mutations were different were included in the study. Materials and Methods: Maternal peripheral blood was collected at different periods of gestation before the invasive fetal sampling procedure was done. The blood was centrifuged to isolate the plasma and prepare DNA. A size separation approach was used to isolate fetal DNA. Nested polymerase chain reaction (PCR-based protocols were developed for detection of the presence or absence of the paternal mutation. Results and Conclusions: There were 30 couples where the parental mutations were different. Of these, in 14 cases the paternal mutation was absent and in 16 cases it was present in the fetus. Using cell-free fetal DNA from maternal plasma, the absence of the paternal mutation was accurately determined in 12 of the 14 cases and the presence of the paternal mutation was correctly identified in 12 of the 16 cases. Thus, this non-invasive approach gave comparable results to those obtained by the conventional invasive fetal sampling methods in 24 cases giving an accuracy of 80.0%. Although the nested PCR approach enabled amplification of small quantities of cell-free DNA from maternal plasma at different periods of gestation after size separation to eliminate the more abundant maternal DNA, an accurate diagnosis of the presence or absence of the paternal mutation in the fetus was not possible in all cases to make it clinically

  8. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes

    Directory of Open Access Journals (Sweden)

    Daniela Cardoso Pereira

    2013-01-01

    Full Text Available Treacher-Collins syndrome (TCS is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  9. Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

    Science.gov (United States)

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis.

  10. Prenatal Diagnosis of a Fetus with de novo Supernumerary Ring Chromosome 16 Characterized by Array Comparative Genomic Hybridization

    Directory of Open Access Journals (Sweden)

    Pietro Cignini

    2011-09-01

    Full Text Available A fetus with de novo ring chromosome 16 is presented. At 20 weeks' gestation, ultrasound examination demonstrated bilateral clubfoot, bilateral renal pyelectasis, hypoplasia of the corpus callosum, and transposition of the great vessel. Amniocentesis was performed. Chromosome analysis identified a ring chromosome 16 [47,XY,r(16] and array comparative genomic hybridization (a-CGH demonstrated that the ring included the euchromatic portion 16p11.2. Postmortem examination confirmed prenatal findings. This is the first case of de novo ring chromosome 16 diagnosed prenatally with a new phenotypic pattern and also reinforces the importance of offering amniocentesis with a-CGH if fetal anomalies are detected.

  11. [Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood].

    Science.gov (United States)

    Sesarini, Carla; Argibay, Pablo; Otaño, Lucas

    2010-01-01

    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 decade, the presence of cell-free fetal DNA in maternal blood has been identified. These fetal DNA fragments would derive from the placenta and are not detected after delivery, making them a source of fetal material for carrying out diagnosis techniques using maternal blood. However, the vast majority of cell free DNA in maternal circulation is of maternal origin, with the fetal component contributing from 3% to 6% and rising towards term. Available methodologies do not allow separation of fetal from maternal cell free DNA, so current applications have been focused on the analysis of genes not present in the mother, such as Y chromosome sequences, or RHD gene in RhD-negative women, or paternal or de novo mutations. Also, the detection of cell-free fetal RNA in maternal blood offers the possibility of obtaining information regarding genetic expression profiles of embrionic tissues, and using genes expressed only at the feto-placental unit, controls for the presence of fetal material could be established, regardless of maternal genetic tissue. The present article describes the evidences regarding the passage of fetal nucleic acids to maternal circulation, its current prenatal diagnosis application and possible future perspectives.

  12. Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications.

    Science.gov (United States)

    Tong, H; Jin, Y; Xu, Y; Zou, B; Ye, H; Wu, H; Kumar, S; Pitman, J L; Zhou, G; Song, Q

    2016-11-01

    Chromosomal aberration mostly occurs in chromosomes 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio (PHR) of different bases of segmental duplication. A direct polymerase chain reaction (PCR) approach was undertaken, where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The PHR between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-08-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  14. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  15. Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

    Science.gov (United States)

    Hall, John W.; Denne, Nicolas; Minardi, Joseph J.; Williams, Debra; Balcik, BJ

    2016-01-01

    Background Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. Case Report A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available. PMID:27429697

  16. Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

    Directory of Open Access Journals (Sweden)

    John W. Hall IV

    2016-06-01

    Full Text Available Background Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP increasingly employ ultrasound (US in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. Case Report A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available. [West J Emerg Med. 2016;17(4460-463.

  17. Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly.

    Science.gov (United States)

    Hall, John W; Denne, Nicolas; Minardi, Joseph J; Williams, Debra; Balcik, B J

    2016-07-01

    Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available.

  18. Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

    Science.gov (United States)

    Schaller, Jean; Moser, Hugo; Begleiter, Michael L; Edwards, Janice

    2007-01-01

    Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols. Identifying attitudes toward genetic testing, including newborn screening, is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens. The Kennedy Krieger Institute (KKI) database identified 327 prospective participants. Families that were willing to participate in the study received an anonymous questionnaire for completion. Frequencies were generated using SPSS software for Windows. Questionnaires were returned from 128 families for a response rate of 39%. Sons who were at risk for inheriting the ALD gene would be tested by 93% of respondents, and 89.3% would ideally have this testing performed prenatally or in the newborn period. Eighty-nine percent would test an at-risk daughter and 51.2% would ideally have this testing performed prenatally or shortly after birth. ALD newborn screening for males and females was supported by 90% of respondents. If newborn screening for ALD/AMN commences, or there is a new diagnosis of ALD, genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options.

  19. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Wessagowit, V; Chunharas, A; Wattanasirichaigoon, D; McGrath, J A

    2007-11-01

    Globalization of economies and improvements in international telecommunications has led to increased demand for better access to the latest developments in healthcare, wherever they may be available. In this report, we describe the first case from Thailand of DNA-based prenatal testing of a mother at risk for recurrence of severe recessive dystrophic epidermolysis bullosa (RDEB), whose affected child had died in early childhood. In the absence of previous access to prenatal diagnostic tests, the mother had undergone several terminations for fear of having another affected child. To prevent this happening again, DNA from the mother and her consanguineous partner was sent from Bangkok to a specialist laboratory at St John's Institute of Dermatology in London and screened for pathogenic mutations in the COL7A1 gene: both individuals were shown to be heterozygous carriers of a splice-site mutation, c.2440G --> C. In a subsequent pregnancy, amniocentesis was performed at 18 weeks' gestation in Bangkok, and fetal DNA was extracted and sent to London for analysis. Restriction endonuclease digestion of the amplified fetal DNA revealed the wild-type COL7A1 sequence only, and 5 months later, a clinically unaffected boy was born. This case represents the first example of DNA-based prenatal diagnosis for RDEB in Thailand and illustrates the benefits for patients in establishing international links with diagnostic centres with technological expertise that is not widely available in certain countries.

  20. Prenatal Diagnosis and Outcome of Fetuses with Double-Inlet Left Ventricle

    Directory of Open Access Journals (Sweden)

    Monisha Gidvani

    2011-12-01

    Full Text Available The aim of this study is to characterize the in utero presentation of the subtype of double-inlet left ventricle (DILV, a rare congenital heart disease, and assess the postnatal outcome. We retrospectively studied fetuses diagnosed prenatally with DILV between 2007 and 2011. We reviewed the prenatal and postnatal echocardiograms, clinical presentations, karyotypes, and the postnatal outcomes. There were eight fetuses diagnosed with DILV with L-transposition of the great vessels (S, L, L. Mean gestational age at diagnosis was 24.7 weeks. Of these, four fetuses (50% had pulmonary atresia. One fetus (12.5% also had tricuspid atresia and coarctation of the aorta and died at 17 months of age. Complete heart block and long QT syndrome was present in one fetus (12.5%, who died shortly after birth. There were no extracardiac or karyotypic abnormalities. Six (75% infants are alive and doing well. Double-inlet left ventricle with varied presentation can be accurately diagnosed prenatally. The outcome of fetuses is good in the absence of associated rhythm abnormalities with surgically staged procedures leading to a Fontan circulation.

  1. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Fetal aortopulmonary septal defect (APSD) is an extremely rare condition, accounting for 0.1%-0.2% of all cardiac defects in live births world wide.1 Hospital mortality is 13% and 33% for simple and complex APSD, respectively.2 This rare cardiac defect refers to a congenital malformation in the development of the arteriosus truncus septum, and is usually associated with a wide variety of other structural cardiac anomalies such as ventricular septal defect (VSD), pulmonary valve stegnosis and so on.3 Prenatal diagnosis of an APSD is possible by echocardiography.

  2. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael;

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  3. Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.

    Science.gov (United States)

    Piotrowski, Krzysztof; Halec, Wojciech; Wegrzynowski, Jerzy; Pietrzyk, Aleksandra; Henkelman, Małgorzata; Zajaczek, Stanisław

    2014-01-01

    Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

  4. 3-D Ultrasound Vascularity Assessment for Breast Cancer Diagnosis

    Science.gov (United States)

    2000-09-01

    analysis ( Venta et al. 1994; Leucht et conventional ultrasound scanner (Spectra VST, Dia- al. 1988). When the objective was clearly defined as sonics, Inc...Measurement of blood perfu- Venta LA. Dudiak CM. Salamon CG. Flisak ME. Sonographic evalu- sion in tissue using Doppler ultrasound. Ultrasound Med Biol

  5. Differential diagnosis of breast lesions using ultrasound elastography

    Directory of Open Access Journals (Sweden)

    Ioana Andreea Gheonea

    2011-01-01

    Full Text Available Context: The recent introduction of elastography has increased the specificity of USG and enabled early diagnosis of breast cancer. Quantitative elastography, especially with strain ratio (SR index, improves diagnostic accuracy and decreased number of biopsies. Aims: The purpose of this study was to assess the role of USG elastography in the differential diagnosis of breast lesions. Settings and Design: This prospective study was conducted in the University of Medicine and Pharmacy Research Centre of Craiova. Materials and Methods: Fifty-eight patients diagnosed with breast lesions between January 2009 and January 2010 were included in this prospective study. All the patients were examined in the supine position, and the B-mode USG image was displayed alongside the elastography strain image. For obtaining the elastography images we used a EUS Hitachi EUB 8500 ultrasound system with a 6.5-MHz linear probe. The elastography strain images were scored according to the Tsukuba elasticity score. Statistical Analysis: We performed receiver operator characteristic (ROC analysis for assessment of the role of USG elastography in the diagnosis of breast lesions. Results: We obtained a sensitivity of 86.7% and a specificity of 92.9% for elasticity score and a sensitivity of 93.3% and a specificity of 92.9% for SR (when a cutoff point of 3.67 was used. There was very good correlation between SR and elasticity score (Spearman coefficient of 0.911. Conclusions: Elastography is a fast, simple method that can complement conventional USG examination. This method has the lowest cost/efficiency ratio and it is also the most noninvasive and accessible imaging method, with an accuracy comparable to MRI.

  6. Prenatal ultrasonic diagnosis of fetal lacrimal sac cyst%产前超声诊断胎儿泪囊囊肿

    Institute of Scientific and Technical Information of China (English)

    黄苑铭; 黄冬平; 梁耀佳; 邹鹏; 陈丹; 马小燕

    2012-01-01

    目的 探讨产前超声诊断胎儿泪囊囊肿的价值.方法 回顾性分析12胎产前超声诊断为胎儿泪囊囊肿的声像图特征,并追踪其妊娠结局.结果 产前超声检出12胎胎儿泪囊囊肿,孕周为26~36周,其中双侧3胎,单侧9胎.泪囊囊肿典型超声声像图表现为眼眶内下方见囊性无回声.6胎囊肿产前自行消失;1胎经终止妊娠后确定存在泪囊囊肿2胎分娩后囊肿自行消失;1胎分娩后因新生儿呼吸窘迫而接受外科手术治疗;2胎失访.结论 胎儿泪囊囊肿有其特征性超声表现,正确诊断有利于指导临床工作.%To explore the value of prenatal ultrasound in diagnosis of lacrimal sac cyst. Methods Prenatal ultrasonic features of 12 fetuses with fetal lacrimal sac cyst were retrospectively analyzed, and the pregnancy outcomes were followed up. Results Twelve fetuses of fetal lacrimal sac cyst were detected with prenatal ultrasound, and their gestational age ranged from 26 to 36 weeks. Among these fetuses, lacrimal sac cyst was bilateral in 3 fetuses and unilateral in 9 fetuses. The typical ultrasonic feature of lacrimal sac cyst was cystic mass without echo in medial and inferior orbit. The lacrimal sac cyst resolved spontaneously prenatally in 6 fetuses. One lacrimal sac cyst was determined after termination of pregnancy. Two lacrimal sac cyst resolved spontaneously after delivery. The lacrimal sac cyst disappeared in one newborn after receiving surgical intervention for respiratory distress syndrome after delivery. Two fetuses were lost during follow-up. Conclusion Fetal lacrimal sac cyst has characteristic ultrasonic appearances. Correct diagnosis is valuable for guiding clinical work.

  7. Analysis of balanced translocation at amniocentesis on prenatal diagnosis%羊水染色体平衡易位在产前诊断中的分析

    Institute of Scientific and Technical Information of China (English)

    罗小金; 胡亮; 冉健; 魏凤香

    2015-01-01

    Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.%目的:探讨孕妇羊水染色体平衡易位的产前诊断指征分布及妊娠结局,为本地区的优生提供科学依据.方法:选取2011年2月至2015年3月在本院进行羊水染色体核型分析的76例平衡易位病例进行回顾分析. 结果:76例病例中产前诊断指征为高龄妊娠38例, 夫妇易位携带者20例, 唐氏筛查高风险9例,不良孕产史5例,B超结果异常2例及其他原因2例. 结论:羊水染色体核型平衡易位者可由于伴随非整倍体异常、 新突发X-常染色体易位及复杂易位而导致胎儿畸形. 新突发简单易位需依据B超、FISH 及array-CGH详细结果给予准确妊娠指导.

  8. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

    Institute of Scientific and Technical Information of China (English)

    ZHANG Lin; ZHANG Xiao-hong; LIANG Mei-ying; REN Mei-hong

    2010-01-01

    Background Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.Methods From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10-12 weeks of gestation), amniocentesis in mid-trimester (16-28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16-37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.Results Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P=0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P=0.000).Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound

  9. [When should evoke prenatal paternal uniparental disomy 14?].

    Science.gov (United States)

    Boiffard, F; Bénéteau, C; Quéré, M P; Philippe, H J; Le Vaillant, C

    2014-04-01

    The paternal uniparental disomy 14 is a rare malformation syndrome whose postnatal pathognomonic sign is the deformation of the rib as coat hanger. In prenatal, ultrasonographic signs are major recurrent polyhydramnios, a narrow thorax and deformed long bones short and sometimes other anomalies including ends. The authors report one rare case of prenatal paternal uniparental disomy 14 with the deformation of the rib as coat hanger. Prenatally, the narrow deformed thorax can be searched by ultrasound three-dimensional (3D) and/or helical CT and thus represent an aid to prenatal diagnosis.

  10. Ultrasound diagnosis of adrenal gland hemorrhage in newborn; Diagnostyka ultrasonograficzna krwawien do nadnerczy u noworodkow

    Energy Technology Data Exchange (ETDEWEB)

    Bieganowska-Klamut, Z.; Dybiec, E.; Wieczorek, P.; Charanicz-Bartler, H. [Zaklad Radiologii Pediatrycznej, Akademia Medyczna, Lublin (Poland)

    1995-12-31

    4 cases of adrenal gland hemorrhage in the newborns diagnosed by ultrasound examination were described. In 3 cases the hemorrhage was in one adrenal gland and in one the hemorrhage was in both. In 1 newborn control ultrasound and CT examination performed after 7 weeks demonstrated pseudocyst of right adrenal gland. In 2 other cases control ultrasound examination showed normalization of adrenal glands. The authors suggest differential diagnosis between the adrenal hemorrhage and neuroblastoma of adrenal gland. (author) 7 refs, 2 figs

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

    Directory of Open Access Journals (Sweden)

    Eric Z Chen

    Full Text Available 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 to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25 trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases, and 91.9% (34 out of 37 of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases. These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.

  12. Awareness among parents of β-thalassemia major patients, regarding prenatal diagnosis and premarital screening.

    Science.gov (United States)

    Ishaq, Fouzia; Abid, Hasnain; Kokab, Farkhanda; Akhtar, Adil; Mahmood, Shahid

    2012-04-01

    To assess the knowledge among parents of thalassemia major patients about prenatal diagnosis, premarital screening for carrier detection and impact of consanguineous marriage on disease transmission. Descriptive study. The Thalassemia Centre, Sir Ganga Ram Hospital, Lahore, from July to September 2009. One hundred and fifteen parents of β-thalassemia major patients were enrolled in this study. A questionnaire was developed and parents were interviewed to assess their knowledge about preventive measures against thalassemia major. Parents of patients with all other types of blood disorder were excluded from the study. There were 74 male (64.3%) and 41 female (35.7) patients with mean age of 9.5 ± 5.1 years. Eighty-eight patients (76.5%) were accompanied by mothers and the rest by their fathers. Seventy-four parents (32.1%) were illiterate; among the literates only 7 were highly educated (3%). Ninety-four couples (81.7%) had consanguineous marriage. Fiftytwo parents (44.6%) knew that thalassemia is an inherited disorder. Thirty-eight (33%) had heard about the test for detecting thalassemia carrier. Premarital screening and prenatal diagnosis was known to 97 (84.3%) and 88 (76.5%) parents respectively. Ninety-nine parents (86.1%) knew about the termination of pregnancy on positive prenatal test but only 69 considered it acceptable religiously (60%). Major source of information to the parents were doctors. Parental knowledge about thalassemia and its preventive measures was inadequate; this requires intervention in the form of public health education programs concentrating on high risk/targeted population.

  13. Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan.

    Science.gov (United States)

    Nikuei, Pooneh; Hadavi, Valeh; Rajaei, Minoo; Saberi, Mozhgan; Hajizade, Fozieh; Najmabadi, Hossein

    2008-01-01

    beta-Thalassemias are a group of heterogenous recessive disorders common in many parts of the world. Despite the great advances in the treatment of thalassemia, there is so far no cure, but perhaps bone marrow transplantation (BMT) is a possibility. Prevention, using prenatal diagnosis and selective abortion in the cases where the fetus is found to be affected, should be considered as a sensible alternative. During the past 5 years, 112 couples have been referred to our Center for detection of their beta-thalassemia (beta-thal) carrier status. In this group, common and rare mutations were detected. Of these, 106 couples (94.6%) came for counseling during pregnancy and six (5.4%) came before becoming pregnant. Prenatal diagnosis was performed for the 106 couples at risk. Fetal DNA was obtained from both chorionic villus sampling (CVS) (99) and amniotic fluid (7). Using reverse hybridization, 64 (60.4%) were found to be heterozygous for a beta-thal mutation and 24 (22.6%) were normal. Eighteen (17.0%) were found to carry an affected fetus and these pregnancies were terminated.

  14. Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction.

    Science.gov (United States)

    De Catte, L; Camus, M; Bonduelle, M; Liebaers, I; Foulon, W

    1998-05-01

    Ovulation induction and assisted-reproduction techniques have dramatically increased the incidence of high-risk multiple pregnancies over the past 10 years. Perinatal outcome may be improved by the use of multifetal reduction. The fetus to be reduced used to be selected only on technical grounds. We report on the results of prenatal diagnosis by chorionic villus sampling (CVS) during the first trimester in 32 multifetal pregnancies in which fetal reduction was requested. The mean gestational age at CVS was 10.5 weeks. Chromosomal analyses were available for all sampled fetuses, three of which were chromosomally abnormal. In 24 couples, fetal reduction to twin pregnancies was successfully carried out within 1 week after the CVS. In seven cases, the couples elected not to proceed with fetal reduction after receiving information that the chromosomal analysis was normal in all fetuses. Mean gestational ages at delivery were, respectively, 34.6 and 31.8 weeks in the reduced and the nonreduced groups (p = 0.04). No fetal losses occurred in either group; one neonatal death was observed after a preterm delivery because of preeclampsia in a twin pregnancy. Prenatal cytogenetic diagnosis during the first trimester in multiple pregnancies prior to fetal reduction appears to be feasible, accurate, and safe. Abnormal chromosomal results indicate the fetus(es) to be reduced. The parents' decisions not to proceed with the fetal reduction procedure, where chromosomal results in all the fetuses were normal, were unexpected.

  15. Application of Fetal DNA in Maternal Plasma in Noninvasive Prenatal Diagnosis

    Institute of Scientific and Technical Information of China (English)

    赵茵; 邹丽

    2004-01-01

    Summary: To explore the application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis, the DNA template was extracted by hydroxybenzene-chloroform from 44 maternal (7-41weeks) plasma. The Fetus-derived Y sequence DYZ-1 gene (149bp) was chosen to be amplified by PCR. The fragment was identified in all the plasma of male bearing pregnant women with the diagnostic accordance rate being 100.00 %. Two of the 22 female bearing pregnant women had false positive results. Among the 44 pregnant women, the diagnostic accordance rate was 88. 89 % at early pregnant stage, 100.00 % at medium pregnant stage, and 96.55 % at late stage respectively.The final accuracy of 95. 45 % was obtained in all cases. It was concluded that by means of hydroxybenzene-chloroform extraction the authors of this article promoted the concentration and purity of the DNA template, and diagnosed more accurately. The results showed that free fetal DNA in the maternal plasma could be regarded as the gene resource for noninvasive prenatal diagnosis.

  16. Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells.

    Science.gov (United States)

    Tachdjian, Gérard; Aboura, Azzedine; Brisset, Sophie; Dommergues, Marc; Gajdos, Vincent; Labrune, Philippe

    2006-01-01

    CVS is the earliest procedure for cytogenetic analysis but the quality of metaphases obtained does not allow the characterization of subtle chromosomal anomalies. We report the application interphase fluorescence in situ hybridization for the rapid prenatal diagnosis of a subtle structural chromosome anomaly in trophoblast cells. The foetus was karyotyped because of a paternal complex chromosomal anomaly 46,XY,inv(2)(q14.3q35),ins(10;2)(q25;q36.1q36.1). Fluorescence in situ hybridization analyses were performed on interphase nuclei and metaphase chromosomes from uncultured chorionic villi using bacterial artificial chromosomes specific for the 2q chromosomal region. Direct conventional cytogenetics showed an apparently normal male karyotype, whereas fluorescence in situ hybridization analysis showed a deletion of the chromosomal region 2q36.1 and a paracentric inversion of the chromosome 2q leading to a partial monosomy 2q36.1. This strategy allowed us to offer an early and rapid chromosomal analysis for this couple leading to a better management of the pregnancy. This report demonstrates that interphase fluorescence in situ hybridization can be used in direct CVS for a rapid and early prenatal diagnosis of complex chromosomal rearrangements. 2006 S. Karger AG, Basel

  17. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  18. The Dianosis Value of Prenatal Ultrasound Screening Combined with Prenatal Maternal Serum Markers Detecting in Trimester Pregnancy for the 21 - trisomy Syndrome%中孕B超产前检查联合母血清标记物对21-三体综合征的临床诊断价值

    Institute of Scientific and Technical Information of China (English)

    李洁; 陈大雁; 胡桂朗; 荆志敏

    2011-01-01

    Objective: To explore the feasibility, effectiveness and necessity of the prenatal ultrasound screenings,combined with the content inspection of the mothers' prenatal maternal serum markers:in trimester pregnancy Alpha-fetoprotein ( AFP), free estriol ( uE3 ), total serum β human chorionic gonadotropin ( hCG) in the 21 -trisomy syndrome. Method: We summarized the detection rate of the 21 -trisomy syndrome by prenatal ultrasound screening and the prenatal maternal serum markers. Result: The detection rate in terms of the positive signs of the prenatal ultrasound screening in trimester pregnancy combined with the prenatal maternal serum markers in the 21-trisomy syndrome diagnosis was 80%-90%. Conclusion:The prenatal ultrasound screening in trimester pregnancy combined with prenatal maternal serum markers in the 21trisomy syndrome diagnosis is a non-invasive checking method, not only can reduce the abnormal or deformed children are born, can also reduce the invasive inspection; It has the davantage of clinically simple,application and testing of a wide range of safe and effective, cost-effective, with higher screening detection rate, and reduce the intrusion caused by the check normal fetal abortion rate.%目的:探讨中孕B超产前检查出现阳性征,及联合母体血清标记物指标:甲胎蛋白(AFP)、游离雌三醇(uE3)、血清总β绒毛膜促性腺激素(hCG)的含量检查对21-三体综合征的产前筛查和诊断的可行性、有效性和必要性.方法:回顾了中孕B超产前检查联合母血清标记物对21-三体综合征检出率.结果:中孕B超产前检查的阳性征,联合母体血清标记物检查指标对21三体综合征检出率高达80%-90%.结论:中孕超声检查,及联合母血清标记物进行唐氏综合征胎儿筛查是一种非侵入性的检查方法,不但可以减少异常或畸型儿童出生,提高人口素质,也可以减少侵入性的检查;且具有临床操作简便、应用范围和检验范围面广

  19. Sonographic physical diagnosis 101: teaching senior medical students basic ultrasound scanning skills using a compact ultrasound system.

    Science.gov (United States)

    Angtuaco, Teresita L; Hopkins, Robert H; DuBose, Terry J; Bursac, Zoran; Angtuaco, Michael J; Ferris, Ernest J

    2007-06-01

    This project was designed to test the feasibility of introducing ultrasound to senior medical students as a primary diagnostic tool in the evaluation of patients. Specifically, its aim was to determine if it is possible for medical students untrained in sonography to gain basic competence in performing abdominal ultrasound with limited didactic and hands-on instructions. Registered sonographers provided the students with hands-on instructions on the use of a compact ultrasound system. They were likewise shown how to evaluate specific organs and perform measurements. The results of the student measurements and those obtained by the sonographers were compared. There was close correlation between the results obtained by sonographers and students on both normal and abnormal findings. This supports the concept that medical students can be taught basic ultrasound skills with limited didactic and hands-on instructions with the potential of using these skills in the patient clinics as an adjunct to routine physical diagnosis.

  20. Clinical application of standard prenatal ultrasound in screening the fetal malformation%规范化产前超声筛查胎儿异常的临床应用

    Institute of Scientific and Technical Information of China (English)

    何宇; 魏振彤; 费君伟; 冯丽华; 于晓伟

    2011-01-01

    Objective: To evaluate the clinical value of standardization prenatal ultrasound in screening the fetal malformation. Methods; Totally 2 175 pregnant women were inspected by standardization prenatal ultrasound examination in our hospital during May 2006 to March 2011. Fetal standard ultrasound cuts were saved . The content and form of ultrasound report were standard. These cases were followed to pregnancy ending. Results; 201 cases of fetal structural abnormalities (9. 23% ) were diagnosed by standardization ultrasound examination. 4 cases of fetal attachments abnormalities were diagnosed. The central nervous system malformation ranked first, uro-genital system malformation, fetal edema syndrome, digestive system malformation, cardiac abnormalities were followed Conclusion; The detecting rate of ultrasound screening in standardization prenatal diagnosis is much higher, and it has significant clinical utilities in diagnosing fetal malformation.%目的:评估规范化产前超声筛查胎儿异常的临床应用价值.方法:2006年5月~2011年3月进行规范化超声检查孕妇2 175例,规范化保存胎儿标准切面图片,规范化超声报告的内容和格式并追踪妊娠结局.结果:规范化超声检查胎儿2 175例,发现和产后证实胎儿异常201例(9.23%),其中胎儿附属物异常4例.胎儿畸形类型中中枢神经系统畸形占首位,其次为泌尿系统畸形、胎儿水肿综合征、消化系统畸形、心血管系统畸形.结论:规范化产前超声诊断出生缺陷检出率较高,对于诊断胎儿结构异常有着非常重要的临床价值.

  1. Ultrasound-Guided Diagnosis and Treatment of Meralgia Paresthetica.

    Science.gov (United States)

    Onat, Sule Sahin; Ata, Ayse Merve; Ozcakar, Levent

    2016-05-01

    Meralgia paresthetica refers to the entrapment of the lateral femoral cutaneous nerve at the level of the inguinal ligament. The lateral femoral cutaneous nerve - a purely sensory nerve - arises from the L2 and L3 spinal nerve roots, travels downward lateral to the psoas muscle, and then crosses the iliacus muscle. Close to the anterior superior iliac spine, the nerve courses in contact with the lateral aspect of the inguinal ligament and eventually innervates the lateral thigh. The entrapment syndrome is usually idiopathic but can also ensue due to trauma/overuse, pelvic and retroperitoneal tumors, stretching of the nerve due to prolonged leg/trunk hyperextension, leg length discrepancies, prolonged standing, external compression by belts, weight gain, and tight clothing. The diagnosis of Meralgia paresthetica is usually clinical, i.e., based on the following symptoms: paresthesia, numbness, burning sensation, dysesthesia, and pain over the anterolateral aspects of the thigh. These complaints may be worsened by walking or prolonged standing and typically disappear after weight loss, abdominal muscle strengthening, or elimination of the underlying cause. Although there are several reports on the confirmatory role of electrodiagnostic studies in the diagnosis of Meralgia paresthetica, electromyographers would usually prefer/suggest not to perform nerve conduction studies in daily clinical practice. Herewith, due to its several advantages, ultrasound imaging has been proposed as an alternative diagnostic method in the recent literature. It not only confirms the entrapment morphologically, but also uncovers a likely underlying cause and provides immediate interventional guidance. The pertinent sonographic findings would be hypoechoic and swollen lateral femoral cutaneous nerve.

  2. Lung ultrasound for the diagnosis of pneumonia in adults

    Science.gov (United States)

    Long, Ling; Zhao, Hao-Tian; Zhang, Zhi-Yang; Wang, Guang-Ying; Zhao, He-Ling

    2017-01-01

    Abstract Background: Pneumonia is a common and serious infectious disease that can cause high mortality. The role of lung ultrasound (LUS) in the diagnosis of pneumonia is becoming more and more important. Methods: In the present study, we collected existing evidence regarding the use of LUS to diagnose pneumonia in adults and conducted a systematic review to summarize the technique's diagnostic accuracy. We specifically searched the Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, and Embase databases and retrieved outcome data to evaluate the efficacy of LUS for the diagnosis of pneumonia compared with chest radiography or chest computed tomography. The pooled sensitivity (SEN) and specificity (SPE) were determined using the Mantel–Haenszel method, and the pooled diagnostic odds ratio (DOR) was determined using the DerSimonian–Laird method. We also assessed heterogeneity of sensitivity, specificity, and diagnostic odds ratio using the Q and I2 statistics. Results: Twelve studies containing 1515 subjects were included in our meta-analysis. The SEN and SPE were 0.88 (95% CI: 0.86–0.90) and 0.86 (95% CI: 0.83–0.88), respectively. The pooled negative likelihood ratio (LR) was 0.13 (95% CI: 0.08–0.23), the positive LR was 5.37 (95% CI: 2.76–10.43), and the DOR was 65.46 (95% CI: 29.24–146.56). The summary receiver operating characteristic curve indicated a relationship between sensitivity and specificity. The area under the curve for LUS was 0.95. Conclusion: LUS can help to diagnose adult pneumonia with high accuracy. PMID:28099332

  3. 产前系统超声筛查与胎儿染色体异常的关系%The Correlation for Prenatal Ultrasound Screening of Fetal Malformations and Fetal Chromosomal Abnormality

    Institute of Scientific and Technical Information of China (English)

    戴晨燕; 茹彤; 顾燕; 杨燕; 杨丽娟; 徐燕

    2011-01-01

    目的:探讨产前系统超声筛查中晚孕期胎儿结构异常对指导进行侵入性产前诊断的价值.方法:2008年1月至2009年6月对我院中晚孕期孕妇行系统超声及超声心动图筛查,发现胎儿异常时经产前咨询及孕妇知情同意后,进行侵入性产前检查即羊水或脐静脉穿刺,进行染色体核型分析,分析各种类型的超声异常表现与染色体异常发病风险的关系.结果:共有105例超声检查发现胎儿异常的孕妇接受了羊水或脐静脉穿刺行胎儿染色体核型分析,77例超声发现严重异常的病例中检出26例染色体异常(26/77),严重异常组与微小异常组之间染色体异常发病的差异有高度统计学意义(χ2=12.566,P<0.001),尤其是胎儿先天性心脏病合并心外畸形时,染色体异常发病率高达55%(11/20).结论:产前系统超声及超声心动图筛查可以发现大多数的胎儿发育异常,特别是胎儿先天性心脏病,可以为进一步进行侵入性产前诊断提供重要依据.%Objective:To assess the effectiveness of systematic ultrasound in second or third trimester to detect fetal malformations for instructing the necesity of further invasive prenatal diagnosis.Methods:This retrospective study included pregnancy women from January 2008 to June 2009 in the Affiliated Drum Tower hospital of Nanjing University Medical College.Those women had systematic ultrasound and echocardiogram examination within the second or third trimester of pregnancy.When fetal malformations were found, the invasive prenatal diagnosis (puncture of amniotic fluid or umbilical vein) was suggested to check the chromosomal abnormalities and analyze their relationship.Results:105 pregnant women who were found fetal abnormalities were recruited and had the invasive prenatal diagnosis, 26 cases of chromosomal abnormalities were found in 77 obvious ultrasound abnormalities.There was significant difference in chromosomal abnormalities between obvious and

  4. Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

    Directory of Open Access Journals (Sweden)

    Halliday Jane L

    2006-09-01

    Full Text Available Abstract Background Despite the wide availability of prenatal screening and diagnosis, a number of studies have reported no decrease in the rate of babies born with Down syndrome. The objective of this study was to investigate the geodemographic characteristics of women who have prenatal diagnosis in Victoria, Australia, by applying a novel consumer behaviour modelling technique in the analysis of health data. Methods A descriptive analysis of data on all prenatal diagnostic tests, births (1998 and 2002 and births of babies with Down syndrome (1998 to 2002 was undertaken using a Geographic Information System and socioeconomic lifestyle segmentation classifications. Results Most metropolitan women in Victoria have average or above State average levels of uptake of prenatal diagnosis. Inner city women residing in high socioeconomic lifestyle segments who have high rates of prenatal diagnosis spend 20% more on specialist physician's fees when compared to those whose rates are average. Rates of prenatal diagnosis are generally low amongst women in rural Victoria, with the lowest rates observed in farming districts. Reasons for this are likely to be a combination of lack of access to services (remoteness and individual opportunity (lack of transportation, low levels of support and income. However, there are additional reasons for low uptake rates in farming areas that could not be explained by the behaviour modelling. These may relate to women's attitudes and choices. Conclusion A lack of statewide geodemographic consistency in uptake of prenatal diagnosis implies that there is a need to target health professionals and pregnant women in specific areas to ensure there is increased equity of access to services and that all pregnant women can make informed choices that are best for them. Equally as important is appropriate health service provision for families of children with Down syndrome. Our findings show that these potential interventions are

  5. In utero MRI diagnosis of fetal malformations in oligohydramnios

    Directory of Open Access Journals (Sweden)

    Ahmed Hesham Said

    2016-12-01

    Conclusion: MRI is valuable in evaluating suspected fetal malformations especially those related to brain and urinary system when ultrasound is inconclusive owing to oligohydramnios. Fetal MRI can add findings that may modify prenatal diagnosis.

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

    Science.gov (United States)

    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.

  7. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    Science.gov (United States)

    Ke, Hai-Ping; Jiang, Hu-Ling; Lv, Ya-Su; Huang, Yi-Zhou; Liu, Rong-Rong; Chen, Xiao-Ling; Du, Zhen-Fang; Luo, Yu-Qin; Xu, Chen-Ming; Fan, Qi-Hui; Zhang, Xian-Ning

    2014-08-01

    Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.

  8. Accuracy of Ultrasound in Detection of Gross Prenatal Central Nervous System Anomalies after the Eighteenth Week of Gestation

    Directory of Open Access Journals (Sweden)

    M. Tahmasebi

    2007-10-01

    Full Text Available Background/Objective: Ultrasound (US detection of prenatal central nervous system (CNS anatomic anomalies is very important in making decision about therapeutic termination. In the present study, the accuracy of US in detection of gross prenatal CNS anatomic anomalies has been investigated."nPatients and Methods: 3012 pregnant women were scanned after 18 weeks of gestation by an expert operator in a referring center. All delivered fetuses were followed after birth through clinical examination and sonography."nResults: In this study, the accuracy of US in detection of gross CNS anatomic anomalies of fetuses after 18 weeks gestation was found to be 100%. The sensitivity, specificity, positive and negative predictive values of US were 100%. In sonographic examination of these 3012 pregnant women, 36 fetuses were detected with CNS anomalies, some of whom had more than one anomaly. Gross CNS anomalies observed included microcephaly, hydrocephaly, anencephaly, holoprosencephaly, ventriculomegaly, meningocele, encephalocele, lissencephaly, agenesis of corpus callosum, bilateral choroid plexus cysts and hypoplastic cerebellum."nConclusion: US is highly operator dependent and operator experience may be the most determinant affecting the results. Sonographic scanning after 18 weeks of gestation is associated with the best results.

  9. Prenatal diagnosis of meconium ileus and meconium peritonitis: Indications for cystic fibrosis testing

    Directory of Open Access Journals (Sweden)

    Egić Amira

    2011-01-01

    Full Text Available Introduction. More recently, the regions of increased abdominal echogenicity such as echogenic bowel, meconium ileus and meconium peritonitis have been associated with an increased prevalence of a variety of unfavourable outcomes including chromosomal abnormalities, cytomegalovirus infection, intestinal obstruction, anorectal malformations and cystic fibrosis. Earlier prenatal examinations of these severe autosomal recessive diseases had been suggested only to families with history of cystic fibrosis. Recently, systemic examination has been introduced by ultrasound with bowel hyperechogenicity where the fetus is the index case for genetic disease. Risk for cystic fibrosis with this ultrasonography findings ranges from 0-33%. Outline of Cases. Two patients are presented, aged 24 and 29 years, both primigravide. The first one had ultrasonography finding of meconium peritonitis revealed at the 37th week of gestation and the other meconium ileus revealed on ultrasonography at the 29th week of gestation. Both patients had prenatal testing of foetal blood obtained by cordocenthesis, both had normal kariotype and were negative for cytomegalovirus infection. Parental DNA testing for the 2nd patient showed that parents were not carriers for the 29 most frequent mutations. Both neonates had intestinal obstruction, underwent surgery and early postoperative course was normal. Hystopathological finding suggested a possibility of cystic fibrosis for the 1st patient, but parents did not want to be tested and for the 2nd one congenital bowel stenosis as a cause of intestinal obstruction. Conclusion. Ultrasonographic echogenic bowel is an indication for invasive procedures for foetal blood testing for chromosomal abnormalities, congenital infections and parental testing for cystic fibrosis. Only if parental heterozygosity is proven foetus should be tested.

  10. The prospect and current situation of prenatal diagnosis in mainland China%中国大陆产前诊断的现状和前景

    Institute of Scientific and Technical Information of China (English)

    王斌

    2006-01-01

    @@ 1 The history and main problems in prenatal diagnosis and clinical diagnosis of inherited diseases Prenatal diagnosis is to diagnose the fetal congenital defects and inherited diseases. In the earlier 1970s, the group of prenatal diagnosis in Peking Union Hospital was founded by Dr. Qiao-zhi LIN.Meanwhile, under the leadership of Dr. LIN, the group successfully completed the culture of amniotic fluid cells and began to diagnose fetal chromosomal diseases in the second trimester of pregnancy. In 1988, they succeeded in diagnosing chromosomal diseases by taking the chorionic villus in the early pregnancy. Since then, the genetic and prenatal counseling to those women who previously had children with severe defects were gradually developed. The work of the Peking Union Hospital developed prenatal diagnosis in our country.

  11. Fetal blood sampling in twin pregnancies. Prenatal diagnosis and management of 19 cases.

    Science.gov (United States)

    Cox, W L; Forestier, F; Capella-Pavlovsky, M; Daffos, F

    1987-01-01

    Twin pregnancies pose particular problems in both prenatal diagnosis and obstetric management. We present 19 twin pregnancies that underwent fetal blood sampling (FBS). The indications were mostly similar to those for singleton pregnancies, with both fetuses being sampled. There was one indication specific to twin pregnancies; disseminated intravascular coagulation in the retained twin after the death-in-utero (DIU) of the other. In 5 cases, only 1 twin was sampled; in 2 because the second twin was female in the diagnosis of an X-linked disorder; in 1 because of technical failure, and in 2 the other twin had predeceased. Eight pregnancies continued after the FBS delivering 2 live, healthy infants, though 5 were delivered before 37 weeks of gestation. In 7 cases there was a discordance in the diagnosis between the twins. In 3 of these cases the affected fetus underwent selective termination by air embolism; in 2 cases the pregnancies were continued and the affected twin not resuscitated; 1 pregnancy is still in progress, and 1 patient had a non-medically supervised termination of both twins in another country. Two patients miscarried within a week of the FBS. Two patients had only 1 living twin at the time of FBS; 1 had a second DIU a month after the FBS and the other a neonatal death at 11 days of age in an infant with severe porencephaly. FBS is technically feasible for similar indications as for singleton pregnancies though discordance in diagnosis raises specific management problems.

  12. Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential

    Directory of Open Access Journals (Sweden)

    Harvey J. Stern

    2014-03-01

    Full Text Available Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH, to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology.

  13. Ectopic ovary with torsion: uncommon diagnosis made by ultrasound

    Science.gov (United States)

    Castro, Adham do Amaral e; Morandini, Fernando; Calixto, Caroline Paludo; Barros, Wagner Haese; Nakatani, Edson Tetsuya; Castro, Allan do Amaral e

    2017-01-01

    Ultrasound is an important diagnostic tool in inguinal hernia and in the evaluation of the contents of the hernia sac. This report presents a case in which ultrasound revealed a herniated ectopic ovary, complicated by torsion of its vascular pedicle, in the right labia majora. We also present a brief discussion of ovarian hernia, its potential complications, and the treatments available. PMID:28298734

  14. First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

    Science.gov (United States)

    Jones, D; Fiozzo, F; Waters, B; McKnight, D; Brown, S

    2014-12-01

    We describe a first-trimester ultrasound examination in which the finding of fetal encephalocele and the cystic appearance of the kidneys raised suspicion of Meckel-Gruber syndrome (MKS). On the basis of sonographic findings, the patient elected termination of pregnancy, and post-termination studies using next-generation sequencing of a gene panel revealed two mutations (one previously described and the other novel) in the gene CC2D2A. Mutations in CC2D2A are known to cause MKS and Joubert syndrome, thus providing molecular confirmation of the clinical suspicion of MKS and opening the possibility for future prenatal diagnosis. This case highlights the ability to detect important anomalies in the first trimester using ultrasound, even in low-risk situations. It also demonstrates the growing role of new sequencing technologies in fetal testing. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  15. Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

    Directory of Open Access Journals (Sweden)

    Suha Mustafa Hassan

    2014-11-01

    Full Text Available Hemoglobinopathies (HBP are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD and selective pregnancy termination is shown to be the most effective prevention tool for the control of HBP. However, PD is not available in Oman thus far because abortion is subject to religious, cultural and ethical issues. We have examined the attitude of a number of Omani HBP carrier couples towards prenatal diagnosis and selective abortion. We have interviewed 35 couples at risk visiting the main premarital clinic in Muscat between Jan 2011 and Jan 2012. Couples were interviewed using a pre-structured questionnaire. The majority would have accepted prenatal diagnosis (94% if the service would be available in the country but pregnancy termination was greatly influenced by religious values. 血红蛋白病(HBP)是一种在阿曼最常见的遗传性疾病,由于其高发的B型地中海贫血症及镰状细胞症,相关的预防措施对于这一国家来说,相当重要。产前诊断(PD)和选择性终止妊娠被证实是针对管控血红蛋白病(HBP)的最有效方法。然而,由于受到宗教、文化和伦理抵制堕胎的影响,产前诊断(PD)并不能在该国得以应用。我们对该国一部分血红蛋白病患夫妇做了一项关于产前诊断的意向调查。2011年一月至2012年一月,我们在马斯喀特(阿曼首都)的一家婚前诊所对35对夫妇做了相关的采访调查。调查的问卷是事先设置好的。大部分(94%)夫妇表示接受产前诊断如果相应的措施能得到广泛的普及,但是他们对于选择性终止妊娠的态度受到了其宗教价值观的极大影响。

  16. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations.

    Science.gov (United States)

    Wallerstein, Robert; Misra, Sonya; Dugar, R Bryce; Alem, Monika; Mazzoni, Ronit; Garabedian, Matthew J

    2015-09-01

    Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40-59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20-39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk. © 2015 John Wiley & Sons, Ltd.

  17. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal].

    Science.gov (United States)

    Holzgreve, W; Troeger, C; Schatt, S; Vial, Y; Louwen, F; Gloning, K; Hahn, S

    1998-10-24

    Currently prenatal diagnosis relies on invasive procedures such as chorion villus sampling (CVS) or amniocentesis (AC). Many parents are reluctant to expose themselves and their child to the small, but significant risk posed by these procedures to mother and child. There is, hence, a great need for a risk-free non-invasive alternative. To achieve this goal most research has been focussed on enriching fetal cells from the blood of pregnant women. The erythroblast has emerged as the target cell of choice, since it is abundant in the early fetus, rare in normal adult blood, and since it has a very short half life, there is no risk of obtaining cells from previous pregnancies. Most enrichment protocols rely either on magnetic- or fluorescent activated cell sorting (MACS and FACS) using fetal specific antibodies. These enriched cells can be examined by FISH (fluorescence in-situ hybridisation) for the presence of the most common fetal chromosomal aneuploidies (13, 18, 21, X and Y) or by polymerase chain reaction (PCR) on singly manipulated cells for genetic disorders. The efficacy in detecting fetal aneuploidies is currently being evaluated in a phase II clinical trial under the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our group is a participant. By modifying our enrichment protocols we have recently been able to obtain detection sensitivities of almost 80%, thereby renewing our optimism that this methodology provides a solid basis for an effective non-invasive prenatal diagnostic test.

  18. Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization.

    Science.gov (United States)

    Ho, Sherry S Y; Chua, Cuiwen; Gole, Leena; Biswas, Arijit; Koay, Evelyn; Choolani, Mahesh

    2012-04-01

    Rapid molecular prenatal diagnostic methods, such as fluorescence in situ hybridization (FISH), quantitative fluorescence-PCR, and multiplex ligation-dependent probe amplification, can detect common fetal aneuploidies within 24 to 48 h. However, specific diagnosis or aneuploidy exclusion should be ideally available within the same day as fetal sampling to alleviate parental anxiety. Microfluidic technologies integrate different steps into a microchip, saving time and costs. We have developed a cost-effective, same-day prenatal diagnostic FISH assay using microfluidics. Amniotic fluids (1-4 mL from 40 pregnant women at 15-22 weeks of gestation) were fixed with Carnoy's before loading into the microchannels of a microfluidic FISH-integrated nanostructured device. The glass slides were coated with nanostructured titanium dioxide to facilitate cell adhesion. Pretreatment and hybridization were performed within the microchannels. Fifty nuclei were counted by two independent analysts, and all results were validated with their respective karyotypes. Of the 40 samples, we found three cases of fetal aneuploidies (trisomies 13, 18, and 21), whereas the remaining 37 cases were normal. Results were concordant with their karyotypes and ready to be released within 3 h of sample receipt. Microfluidic FISH, using 20-fold less than the recommended amount of probe, is a cost-effective method to diagnose common fetal aneuploidies within the same day of fetal sampling.

  19. Potential biomarkers for Turner in maternal plasma: possibility for noninvasive prenatal diagnosis.

    Science.gov (United States)

    Kolialexi, Aggeliki; Anagnostopoulos, Athanasios K; Papantoniou, Nikos; Vougas, Konstantinos; Antsaklis, Aris; Fountoulakis, Michael; Mavrou, Ariadni; Tsangaris, George Th

    2010-10-01

    Turner syndrome (TS) is the most common sex chromosome abnormality in females, caused by the complete or partial absence of one X chromosome. To identify biomarkers for TS, we compared the protein composition of maternal plasma samples from pregnant women with normal and TS fetuses, using a proteomic approach consisting of 2D-E separation and MS analysis for the identification of the differentially expressed proteins. Samples were routinely obtained in the second trimester of pregnancy, stored, and used after prenatal determination of the fetal karyotype. Nine proteins (C1S, CO3, CLUS, AFAM, HABP2, IGHA1, HPT, SHBG, and CD5L) were significantly increased in the plasma of women carrying TS fetuses, whereas KNG1, IGJ, and TTHY were decreased. Identified proteins were further evaluated by immunoblot analysis while functional network association was carried out to asses significance. The identification of specific biomarkers may facilitate the development of noninvasive prenatal diagnosis and improve our understanding of the pathology of TS. Nevertheless, testing a larger cohort of pregnant women is necessary to evaluate the relevance of the reported findings.

  20. Parents’ Experiences With Ultrasound During Pregnancy With a Lethal Fetal Diagnosis

    Directory of Open Access Journals (Sweden)

    Erin M. Denney-Koelsch

    2015-05-01

    Full Text Available This longitudinal naturalistic study sought to describe parent experiences of ultrasounds during pregnancies with lethal fetal diagnoses (LFDs. We interviewed 16 mothers and 14 partners twice during pregnancy and twice after birth and death of their infant. Parents reported that ultrasound providers had a profound impact on their experiences with LFDs. Within three stages of pregnancy (pre-diagnosis, learning the diagnosis, and living with the diagnosis, themes of optimistic expectation, hearing bad news, need to know, and time with baby emerged. The dynamics of interactions with ultrasound providers included differing goals and expectations, and compatibility of interactions. These interactions were either satisfying or added to parents’ burden. Ultrasound providers have the opportunity to share valuable knowledge and facilitate understanding and precious time with the baby. Providers of obstetrical care can improve communication with parents with LFDs at critical time periods by matching their interaction to parents’ needs.

  1. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

    NARCIS (Netherlands)

    Oever, J.M. van den; Bijlsma, E.K.; Feenstra, I.; Muntjewerff, N.; Mathijssen, I.B.; Bakker, E. de; Belzen, M.J. van; Boon, E.M.

    2015-01-01

    OBJECTIVE: With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD). METHODS: Fifteen couples have been included, assessing a total of n = 20 pregnancies. Fetal paternally inherited CAG repeat length was det

  2. Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2009-12-01

    Conclusion: We found a frequency of 0.019% for rea(21q21q Down syndrome in patients undergoing amniocentesis. Down syndrome caused by the homologous rearrangement rea(21q21q can be associated with recurrence. Prenatal diagnosis of rea(21q21q Down syndrome should include extensive cytogenetic and molecular analyses of the parents and probands.

  3. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program

    NARCIS (Netherlands)

    Fleurke-Rozema, Hanneke; van de Kamp, Karline; Bakker, Marian; Pajkrt, Eva; Bilardo, Caterina; Snijders, Rosalinde

    ObjectiveTo examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. MethodsA prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were

  4. Doppler ultrasound for diagnosis of soft tissue sarcoma: efficacy of ultrasound-based screening score

    Directory of Open Access Journals (Sweden)

    Nagano Satoshi

    2015-06-01

    Full Text Available Background. The utility of ultrasound imaging in the screening of soft-part tumours (SPTs has been reported. We classified SPTs according to their blood flow pattern on Doppler ultrasound and re-evaluated the efficacy of this imaging modality as a screening method. Additionally, we combined Doppler ultrasound with several values to improve the diagnostic efficacy and to establish a new diagnostic tool.

  5. Prenatal diagnosis of Pallister-Killian syndrome associated with pulmonary stenosis and right ventricular dilatation.

    Science.gov (United States)

    Park, In Yang; Shin, Jong Chul; Kwon, Ji Young; Koo, Bo Kyung; Kim, Myungshin; Lim, Jihyang; Kim, Yonggoo; Han, Kyungja

    2009-08-01

    Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++)[16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography.

  6. Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

    Science.gov (United States)

    Caprino, D; Acquila, M; Mori, P G

    1993-12-01

    We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.

  7. Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes.

    Science.gov (United States)

    Palacios-Marqués, Ana; Oliver, Cecilia; Martín-Bayón, Tina; Martinez-Escoriza, Juan Carlos

    2013-06-03

    Caudal regression or caudal dysplasia sequence (CDS) is a rare congenital malformation, which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lower limbs. It can be associated to visceral defects in various degrees. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Women with diabetes who are dependent on insulin are 200-400 times more likely to have a child with caudal regression, making CDS the most characteristic fetal abnormality of diabetic embryopathy. Prenatal diagnosis is possible by ultrasonographic examination. The sonographic findings include abrupt interruption of the lumbar spine and 'Buddha or frog position' of the lower limbs. MRI has demonstrated the level of the vertebral anomalies as well as the associated abnormalities and this is crucial because the prognosis of this condition depends on the severity of the lesion and the presence of associated disorders.

  8. Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE): Proposed DSM-5 Diagnosis.

    Science.gov (United States)

    Kable, Julie A; O'Connor, Mary J; Olson, Heather Carmichael; Paley, Blair; Mattson, Sarah N; Anderson, Sally M; Riley, Edward P

    2016-04-01

    Over the past 40 years, a significant body of animal and human research has documented the teratogenic effects of prenatal alcohol exposure (PAE). Neurobehavioral Disorder associated with PAE is proposed as a new clarifying term, intended to encompass the neurodevelopmental and mental health symptoms associated with PAE. Defining this disorder is a necessary step to adequately characterize these symptoms and allow clinical assessment not possible using existing physically-based diagnostic schemes. Without appropriate diagnostic guidelines, affected individuals are frequently misdiagnosed and treated inappropriately (often to their considerable detriment) by mental health, educational, and criminal justice systems. Three core areas of deficits identified from the available research, including neurocognitive, self-regulation, and adaptive functioning impairments, are discussed and information regarding associated features and disorders, prevalence, course, familial patterns, differential diagnosis, and treatment of the proposed disorder are also provided.

  9. [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

    Science.gov (United States)

    Zéphir, P; Decramer, S; Sartor, A; Vayssière, C

    2014-05-01

    Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.

  10. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other?

    Science.gov (United States)

    Ballantyne, Angela; Newson, Ainsley; Luna, Florencia; Ashcroft, Richard

    2009-08-01

    This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

  11. Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... information about livebirths, fetal deaths with GA>/=20weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

  12. Prenatal Diagnosis and Postnatal Findings of Cephalothoracopagus Janiceps Disymmetros: A Case Report

    Directory of Open Access Journals (Sweden)

    Lívia Teresa Moreira Rios

    2012-01-01

    Full Text Available Conjoined twins are rare variants of monozygotic twins, which result from an incomplete division of the embryonic disk. Cephalothoracopagus is a rare twin pregnancy described as imperfect fusion of the head and chest, but separated columns, limbs, and pelvis. They occur with incidence rates that range from 1 per 50,000 to 1 per 100,000 births; however, the incidence of the cephalothoracopagus variety is 1 per 58 conjoined twins. In the case of identical and symmetric faces caused by the orientations of the 2 notochordal axes that are perfectly ventroventral, they are called janiceps disymmetros. We present a prenatal diagnosis of a typical case of cephalothoracopagus janiceps disymmetros and the diagnostic confirmation by image and pathology exams.

  13. Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Gahan PB

    2013-04-01

    Full Text Available Peter B Gahan Anatomy and Human Sciences Department, King's College London, London Bridge, London, UK Abstract: The analysis of fetal nucleic acids in maternal blood 13 years ago has led to the initiation of noninvasive methods for the early determination of fetal gender, rhesus D status, and a number of aneuploid disorders and hemoglobinopathies. Subsequently, a comparatively large quantity of fetal DNA and RNA has been demonstrated in amniotic fluid as well as small amounts in premature infant saliva. The DNA and RNA in amniotic fluid has permitted an analysis of core transcriptomes, whilst the DNA and RNA in saliva allows the early detection and treatment monitoring of fetal developmental problems. These aspects are discussed together with the methodology and limits of analysis for noninvasive prenatal diagnosis in predictive, preventive, and personalized medicine. Keywords: fetal circulating DNA/RNA, amniotic fluid, saliva, aneuploidy, thalassemias

  14. Prenatal diagnosis of congenital rubella infection in São Paulo

    Directory of Open Access Journals (Sweden)

    Suely Pires Curti

    2014-10-01

    Full Text Available Objective: rubella during the early stages of pregnancy can lead to severe birth defects known as congenital rubella syndrome (CRS. Samples collected from pregnant women with symptoms and suspected of congenital rubella infection between 1996 and 2008 were analyzed. Methods: a total of 23 amniotic fluid samples, 16 fetal blood samples, 1 product of conception and 1 placenta were analyzed by serology and RT-PCR. Results: all patients presented positive serology for IgG / IgM antibodies to rubella virus. Among neonates, 16 were IgG-positive, 9 were IgM-positive and 4 were negative for both antibodies. Of the 25 samples analyzed in this study, 24 were positive by RT-PCR. Changes in ultrasound were found in 15 (60% of 25 fetuses infected with rubella virus. Fetal death and miscarriage were reported in 10 (40% of the 25 cases analyzed. The rubella virus was amplified by PCR in all fetuses with abnormal ultrasound compatible with rubella. Fetal death and abortion were reported in 10 of 25 cases analyzed. Conclusion: this study, based on primary maternal rubella infection definitely confirms the good sensitivity and specificity of RT-PCR using amniotic fluid and ultrasound. The results showed that molecular assays are important tools in the early diagnosis of rubella and congenital rubella syndrome.

  15. 孕中期复杂性先心病的产前超声筛查%Ultrasound Prenatal Screening for Complex Congenital Heart Disease During the Second Trimester

    Institute of Scientific and Technical Information of China (English)

    孟昕

    2014-01-01

    目的:探讨孕中期超声对复杂性先天性心脏病的筛查作用,提高复杂性先心病的检出率。方法2010年10月至2013年10月期间,我院7295例孕妇于孕21~40周,分别进行对照组(月超检查)和观察组(通过美国G耘灾燥造怎泽燥灶730彩色多普勒超声诊断仪,通过心脏超声筛查的5个标准切面,发现异常心脏节段,再通过彩色多普勒血流信号,观察房室、大动脉血流情况,分析先天性心脏病类型)检查。产前超声诊断结果与本院尸检结果,进行对比分析。结果与对照组相比,观察组复杂性先天性心脏病的临床诊断率明显升高(0.27豫增泽.0.12豫),差异有统计学意义(孕<0.05)。7295例胎儿检出20例复杂性先天性心脏病,其中6例合并心外畸形,14例本院引产,其尸检结果与产前超声诊断结果相一致。结论复杂性先天性心脏病的畸形情况多变,超声分段检查结合彩色多普勒超声的产前超声筛查能够有效提高复杂性先心病的检出率。%Objective To explore the effect of ultrasound prenatal screening for complex congenital heart disease during the second trimester, and to improve the detection rate of complex congenital heart disease. Methods From October 2010 to October 2013, 7 295 pregnant women (pregnant between 21~40 weeks) in our hospital received the B-ultrasonic examination (control group) and color Doppler ultrasonography (GE Voluson 730) examination (observation group) respectively. Color Doppler ultrasonography examination found out abnormal heart segments through screening five standard section of cardiac ultrasound, then by color Doppler flow signals, the atrioventricular and aortic blood flow situation were observed, and the types of congenital heart disease were analyzed. Prenatal ultrasound diagnosis results and hospital autopsy results were taken for comparative analysis. Results Compared with the control group, the clinical diagnosis

  16. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  17. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    2006-01-01

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  18. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.

    Science.gov (United States)

    Paladini, D; Borghese, A; Arienzo, M; Teodoro, A; Martinelli, P; Nappi, C

    2000-12-01

    The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. Prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome.

  19. The image analysis of prenatal ultrasound and MRI of fetal right congenital diaphragmatic hernia%胎儿先天性右侧膈疝的产前超声及磁共振图像分析

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘; 潘慧红

    2015-01-01

    Objective To summarize the image features of prenatal ultrasound and MRI of fetal right congenital diaphragmatic hernia (CDH). Methods Between June 2007 and December 2014, eight fetuses with suspicious right pleural abnormalities diagnosed by conventional prenatal ultrasound received MRI examination within 24 to 48 hours after ultrasonography at Shanghai Children′s Medical Center. The imaging sequences included steady-state free-precession (SSFP) sequence, single-shot turbo spin echo (SSTSE) sequence and T1-weighted imaging (T1WI) sequence. Prenatal ultrasound and MRI findings were compared with postnatal imaging diagnoses, surgery or autopsy. The image features of prenatal ultrasound and MRI of fetal right CDH were analyzed. Results Among the eight cases of fetal prenatal ultrasound, 7 cases presented right pleural abnormal heterogeneous echo, 1 case showed right pleural effusion. Fetal prenatal MRI showed seven cases of right-sided pleural abnormalities, included a portion of the liver in 2 cases, a portion of the bowel in 2 cases, a portion of the liver and the bowel in 3 cases. One case was with bilateral pleural abnormalities, the liver and the bowel in right thoracic cavity, a portion of the bowel in left thoracic cavity. Prenatal ultrasound and MRI findings were compared with postnatal upper gastrointestinal tract barium contrast, enhanced chest CT, surgery or autopsy. Prenatal ultrasound correctly diagnosed 4 cases of fetal right CHD, misdiagnosed right CHD as right pleural mass in 2 cases, missed 1 case of right CHD, and misdiagnosed 1 case of bilateral CHD as right CHD. MRI correctly diagnosed 7 cases of fetal right CHD and 1 case of bilateral CHD. Conclusions Prenatal ultrasound couldn′t identify the detailed contents herniated into the fetal thoracic cavity of right CDH, especially when the liver herniated into the fetal thoracic cavity. However, prenatal MRI could clearly show the hernia contents in the fetal thoracic cavity, and make the correct

  20. [Comprehensive ultrasound diagnosis of orbital tumors and preudotumors].

    Science.gov (United States)

    Aznabaev, M T; Gabdrakhmanova, A F; Gaĭsina, G F

    2006-01-01

    A comprehensive ultrasound examination was made in 37 patients with orbital tumors and pseudotumors. The basic differential diagnostic sonographic and Doppler signs were defined in capillary hemangioma, vasculitis at the stage of infiltration and malignancies of the orbit.

  1. Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography

    Institute of Scientific and Technical Information of China (English)

    ZHU Hai-yan; WU Ling-qian; PAN Qian; TANG Bei-sha; LIANG De-sheng; LONG Zhi-gao; DAI He-ping; XIA Kun; XIA Jia-hui

    2006-01-01

    @@ Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder1 (1in 6000 to 10 000 births) caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1,2which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2.3 Based on nucleotide mismatches between SMN1 and SMN2,the following two DNA tests are usually performed:single-strand conformational polymorphism (SSCP)3and polymerase chain reaction (PCR) followed by a restriction enzyme digestion.4,5 In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography (DHPLC), which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1.

  2. 3-D Ultrasound Vascularity Assessment for Breast Cancer Diagnosis

    Science.gov (United States)

    1998-09-01

    registration by maximization of mutual information. Med considered as unlikely. Image Anal 1996;1:35-51. Our reference: UMB 5398 ELSEVIER SCIENCE INC . TRANSFER...retrieval systems. Rights of authors Elsevier Science Inc . and World Federation for Ultrasound in Medicine and Biology recognizes the retention of the...indication of the Elsevier Science Inc . and World Federation for Ultrasound in Medicine and Biology copyright and a full citation of the journal source

  3. 胎儿盆腔肾的产前超声诊断%Prenatal ultrasonic diagnosis of fetal pelvic kidney

    Institute of Scientific and Technical Information of China (English)

    鲁嘉; 孟华; 姜玉新; 刘欣燕; 袁岩; 张一休; 欧阳云淑

    2012-01-01

    Objective To discuss the ultrasound screening method and sonographic features of fetal pelvic kidney. Methods Prenatal sonographic characteristics of 8 fetal pelvic kidneys detected with prenatal ultrasound were retrospectively analyzed according to the autopsy after induction of labor or postnatal follow-up. Results Pelvic kidneys were detected in 8 fetuses with gestation of 22?6 weeks, 4 in left, 3 in right, while 1 was crossed fused kidney. Two fetuses had normal sized, shaped and structural pelvic kidneys, 1 had normal structural but crossed fused right pelvic kidney, 2 had severe hy-dronephrosis with pelvic kidneys, 3 had multicystic kidney dysplasia, 2 in the ipsilateral pelvic kidney and 1 in bilateral kidneys with other multiple abnormalities. Induction of labor was performed for 3 fetuses, and pelvic kidney was confirmed in 2 with histopathological examination. After birth, pelvic kidney was confirmed with follow-up in 3 of 4 newborns. One fetus was still in pregnancy. Conclusion In fetuses with unilateral empty renal fossa, attention should be paid to find the pelvic kidney. Color Doppler ultrasonic depiction of renal artery is important for the diagnosis of fetal pelvic kidney.%目的 探讨胎儿盆腔肾的超声筛查方法和声像图特点.方法 回顾性分析经产前超声诊断的8胎胎儿盆腔肾的声像图特征,并结合引产后尸体检查病理结果及出生后随访复查等进行分析.结果 盆腔肾胎儿8胎,胎龄22~36周;左肾4胎,右肾3胎,交叉融合肾1胎.2胎盆腔肾形态结构正常,1胎交叉融合肾结构正常;2胎盆腔肾合并肾积水;3胎盆腔肾合并多囊性肾发育不良,2胎为同侧,1胎为双侧并多发畸形.8胎中,引产3胎,2胎经病理检查证实;4胎出生,其中3胎经出生后复查证实,1胎失访;1胎尚在孕期随访中.结论 对于单侧肾窝肾缺失的胎儿,应注意寻找异位盆腔肾.彩超显示肾动脉对诊断胎儿盆腔肾有重要提示作用.

  4. Prenatal diagnosis of Down syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction

    Institute of Scientific and Technical Information of China (English)

    Wu Dan; Chi Hongbin; Shao Minjie; Wu Yao; Jin Hongyan; Wu Baiyan; Qiao Jie

    2014-01-01

    Backgroud Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments.This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis,which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome.Methods AF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes.Peripheral blood samples of the parents were collected at the same time.Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR.Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.Results The sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval,CI:77%-98%) and the specificity was 100% (26/26; CI:88%-100%).The determination rate of the origin of the extra chromosome was 69%.The sensitivity and the specificity of the assay in the euploid were 100% (27/27).Conclusions Trisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant.This karyotype analysis method greatly reduces the requirement for the specimen size.It will be a benefit for early amniocentesis and could avoid pregnancy complications.The method may become an ancillary method for prenatal diagnosis of trisomy 21.

  5. Update on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood.

    Science.gov (United States)

    Snow-Lisy, Devon C; Yerkes, Elizabeth B; Cheng, Earl Y

    2015-08-01

    We review the current literature regarding urological management of spina bifida from prenatal diagnosis to adulthood. We searched MEDLINE(®), EMBASE(®) and PubMed(®) for English articles published through December 2014 using search terms "spina bifida," "spinal dysraphism" and "bladder." Based on review of titles and abstracts, 437 of 1,869 articles were identified as addressing topics related to open spina bifida in pediatric patients, or long-term or quality of life outcomes in adults with spina bifida. We summarize this literature to inform clinical guidelines and create a framework for disease management. The birth prevalence of spina bifida in the United States has recently plateaued at approximately 30 per 100,000. With improved management more individuals are surviving to adulthood, with an economic impact of $319,000 during the lifetime of an individual with spina bifida. Recent advances in prenatal surgery have demonstrated that prenatal closure of spina bifida is possible. To assess safety and efficacy, the National Institutes of Health sponsored Management of Myelomeningocele Study was undertaken, in which subjects were randomized to prenatal or postnatal closure. Until the urological results of this trial are published, the impact of prenatal intervention on future bladder function remains unclear. Controversy continues regarding the optimal use and timing of urodynamic studies, and the indications for initiation of clean intermittent catheterization and anticholinergics in infants and children. Many favor expectant management, while others argue for a more proactive approach. Based on the current literature, both approaches appear to protect the child from renal injury, although delayed intervention may increase rates of bladder augmentation. The current literature regarding this topic is difficult to interpret and compare due to heterogeneity of patient populations, variable outcome measures and lack of reporting of quality of life outcomes

  6. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

    Science.gov (United States)

    Spaggiari, Emmanuel; Aboura, Azzedine; Sinico, Martine; Mabboux, Philippe; Dupont, Céline; Delezoide, Anne-Lise; Guimiot, Fabien

    2012-01-01

    Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre-Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.

  7. [Ultrasound imaging of mesenchymal small intestine tumors in diagnosis of unexplained gastrointestinal hemorrhage].

    Science.gov (United States)

    Bozkurt, T; Butsch, B; Schmiegelow, P; Lux, G

    1993-12-01

    The presented case reports highlight the value of transabdominal ultrasound as a complementary and non-invasive diagnostic tool in unexplained gastrointestinal bleeding. Seven patients with intermittent melaena and/or chronic anaemia were examined. In all patients, diagnostic procedures like abdominal ultrasound, EGD, colonoscopy and enteroclysis were performed primarily and did not point to a bleeding source. Transabdominal bowel wall ultrasound discovered in all cases a round and smoothly delineated tumour of homogeneous and hypoechoic structure. The diagnosis was confirmed using selective angiography in three cases revealing a roundish hypervascular lesion. Fine-needle aspiration biopsy and re-endoscopy were used in two cases, respectively, to verify the diagnosis. Postoperative histology revealed a benign leiomyoma (n = 3), schwannoma (n = 2), lipoma (n = 1) and angiofibroma (n = 1) with vascular erosions. Transabdominal ultrasound can operate as a complementary imaging technique in case of gastrointestinal haemorrhage, if endoscopic procedures fail to identify the bleeding source in the upper gastrointestinal tract and large bowel.

  8. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature

    Science.gov (United States)

    Ergenoğlu, Mete Ahmet; Yeniel, A. Özgür; Peker, Nuri; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet

    2012-01-01

    Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination. PMID:24592026

  9. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

    Science.gov (United States)

    Mittermayer, C; Lee, A; Brugger, P C

    2004-08-01

    The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

  10. 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.

  11. 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.

  12. Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses

    Directory of Open Access Journals (Sweden)

    Maria Carolina de Abreu Sampaio

    2007-08-01

    Full Text Available O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método.Prenatal diagnostic testing is indicated for some severe genodermatoses, such as recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Fetal skin biopsy was introduced in 1980, but it cannot be performed before 15th gestational week. Fetal DNA analysis is a precise method and can be performed earlier in pregnancy. However, the molecular basis of the genodermatoses must be known and it is essential to determine the gene mutations and/or informative markers in the families with a previously affected child. Fetal DNA can be obtained by chorionic villus sampling or amniocentesis. Preimplantation genetic diagnosis is an alternative approach obviating the need for termination of pregnancy. It involves in vitro fertilization and

  13. Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

    Directory of Open Access Journals (Sweden)

    Marija Volk

    Full Text Available A universal biomarker panel with the potential to predict high-risk pregnancies or adverse pregnancy outcome does not exist. Transcriptome analysis is a powerful tool to capture differentially expressed genes (DEG, which can be used as biomarker-diagnostic-predictive tool for various conditions in prenatal setting. In search of biomarker set for predicting high-risk pregnancies, we performed global expression profiling to find DEG in Ts21. Subsequently, we performed targeted validation and diagnostic performance evaluation on a larger group of case and control samples. Initially, transcriptomic profiles of 10 cultivated amniocyte samples with Ts21 and 9 with normal euploid constitution were determined using expression microarrays. Datasets from Ts21 transcriptomic studies from GEO repository were incorporated. DEG were discovered using linear regression modelling and validated using RT-PCR quantification on an independent sample of 16 cases with Ts21 and 32 controls. The classification performance of Ts21 status based on expression profiling was performed using supervised machine learning algorithm and evaluated using a leave-one-out cross validation approach. Global gene expression profiling has revealed significant expression changes between normal and Ts21 samples, which in combination with data from previously performed Ts21 transcriptomic studies, were used to generate a multi-gene biomarker for Ts21, comprising of 9 gene expression profiles. In addition to biomarker's high performance in discriminating samples from global expression profiling, we were also able to show its discriminatory performance on a larger sample set 2, validated using RT-PCR experiment (AUC=0.97, while its performance on data from previously published studies reached discriminatory AUC values of 1.00. Our results show that transcriptomic changes might potentially be used to discriminate trisomy of chromosome 21 in the prenatal setting. As expressional alterations

  14. β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.

    Science.gov (United States)

    Patel, Ashwin P; Patel, Rupesh B; Patel, Saumyaa A; Vaniawala, Salil N; Patel, Dipika S; Shrivastava, Naina S; Sharma, Narmadeshwar P; Zala, Jayendrasinh V; Parmar, Prakash H; Naik, Madhuben R

    2014-01-01

    Prenatal diagnosis (PND) is one of the most cost effective preventive methods, but it is available only in the large cities of India. Therefore, we initiated a program that offers PND and allows us to determine the prevalence of various mutations. Pregnant females (n = 111,426) were screened for hemoglobinopathies using complete blood count (CBC) and high performance liquid chromatography (HPLC). If the female had a hemoglobinopathy, her husband was then tested. If hemoglobinopathies were seen in both partners, a genetic mutation study was performed on the couple. Fetal samples were obtained by either chorionic villus sampling (CVS) in 70.6% or amniocentesis in 29.4%. The study included 282 couples. IVS-I-5 (G > C) was the most common mutation in all castes except in the Sindhis and Lohanas, where the 619 bp deletion was the most common. Prenatal testing was informative in 97.9% of the couples. A significant number of couples (41.0%) underwent PND during their first pregnancy. Seven patients with β-thalassemia (β-thal) trait had normal Hb A2 levels. The Hb A2 and Hb F values varied significantly (p  T or G > A), were present in 81.0% of the couples tested. β-Thalassemia mutation frequency varied among the different castes, underlining the need for evolving a testing strategy that considers the caste system. Targeting antenatal clinics could also prove to be a most cost effective way of preventing hemoglobinopathies.

  15. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies?

    Science.gov (United States)

    Lalatta, Faustina; Tint, G Stephen

    2013-11-01

    Sex chromosome trisomies (SCT), an extra X chromosome in females (triple X, XXX), males with an extra X chromosome (Klinefelter syndrome, XXY) or an extra Y chromosome (XYY) occur because of errors during meiosis and are relatively frequent in humans. Their identification has never been the goal of prenatal diagnosis (PD) but they almost never escape detection by any of the methods commonly in use. Despite recommendations and guide-lines which emphasize the importance of structured counseling before and after PD, most women remain unaware that testing for serious genetic abnormalities is more likely to uncover these trisomies. With the increasing use of PD more and more prospective parents receive a diagnosis of sex chromosome trisomies and are faced with the dilemma of whether to terminate the pregnancy or to carry it to term. Despite the dramatic and emotionally devastating consequences of having to make such a decision, they have little opportunity to consider in advance the possible outcomes of such a pregnancy and, rather than relying on their own feelings and judgements, are forced to depend on the advice of counseling professionals who may or may not themselves be fully aware of what having an extra sex chromosome can mean to the development of a child. We address here the principles of reproductive autonomy together with an analysis of the major issues that ought to be discussed with the parents before a PD is carried out in order to minimize detrimental effects caused by this unexpected finding.

  16. Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

    Science.gov (United States)

    Turchetti, Daniela; Razzaboni, Elisabetta; Zomer, Hila; Rossi, Cesare; Ferrari, Simona; Greco, Donatella; Graziano, Claudio; Romeo, Giovanni; Seri, Marco

    2006-12-01

    Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892-893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed.

  17. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    Science.gov (United States)

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD.

  18. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    Science.gov (United States)

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  19. BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis.

    Science.gov (United States)

    Choy, Richard Kwong Wai; Chen, Ying; Sun, Xiao-Fang; Kwok, Yvonne Ka Yin; Leung, Tak Yeung

    2014-04-01

    Karyotyping, the gold standard used for diagnosis of chromosomal abnormalities, is being progressively replaced by rapid aneuploidy testing (RAT) techniques such as quantitative fluorescence-PCR, FISH and multiplex ligation-dependent probe amplification for diagnosing the common aneuploidies or chromosomal microarray analysis for comprehensive genome-wide testing. However, due to technical limitations, current RATs are confined to the detection of common aneuploidies 13, 18, 21 and sex chromosomes. To overcome the limitations of RATs, a bacterial artificial chromosomes-on-beads (BoBs™) assay technology has been introduced for the detection of the common aneuploidies as well as specific microdeletion syndromes. The BoBs assay is a bead-based multiplex assay using polystyrene beads impregnated with two spectrally distinct infrared fluorochromes to create a liquid array of up to 100 unique spectral signatures that supports the analysis of that scale of simultaneous hybridization assays on a minute DNA sample. This review gives an overview on the collective experiences of BoBs applications in prenatal diagnosis.

  20. Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly.

    Science.gov (United States)

    Clementi, Maurizio; Di Gianantonio, Elena; Ponchia, Rossella; Petrella, Marilena; Andrisani, Alessandra; Tenconi, Romano

    2006-01-01

    Couples undergoing invasive prenatal diagnosis (PD) are informed and concerned mainly about autosomal trisomies. However, unexpected chromosomal abnormalities (UCA) are a frequent finding at PD. We have analysed the psychological and practical consequences in the couples counselled in our centre because of the identification of foetal UCA at PD. The study was carried out on a sample of 52 couples referred for genetic counselling in the period 1997-2000. The couples underwent a structured interview and two self-report instruments to measure anxiety and psychological characteristics. The couples have been divided into three groups: (1) low risk - without or with negligible risk, (2) mild risk - with mild risk or mild clinical phenotype and (3) sex chromosome anomaly. All couples received the diagnosis of chromosomal anomaly from the obstetrician without any other comments and were referred to our service for genetic counselling. Most couples felt fear (11/17 in the LR group, 5/7 in the MR group and 12/21 in the SCA group), while sadness was lower frequently felt by those parents-to-be in the LR group. Our study suggests that a specific counselling that mentions the possibility of UCA is mandatory before PD, and the cost-benefit estimate of PD should take into account the psychological implications of UCA detection.

  1. Computer-aided diagnosis of prostate cancer with emphasis on ultrasound-based approaches: a review.

    Science.gov (United States)

    Moradi, Mehdi; Mousavi, Parvin; Abolmaesumi, Purang

    2007-07-01

    This paper reviews the state of the art in computer-aided diagnosis of prostate cancer and focuses, in particular, on ultrasound-based techniques for detection of cancer in prostate tissue. The current standard procedure for diagnosis of prostate cancer, i.e., ultrasound-guided biopsy followed by histopathological analysis of tissue samples, is invasive and produces a high rate of false negatives resulting in the need for repeated trials. It is against these backdrops that the search for new methods to diagnose prostate cancer continues. Image-based approaches (such as MRI, ultrasound and elastography) represent a major research trend for diagnosis of prostate cancer. Due to the integration of ultrasound imaging in the current clinical procedure for detection of prostate cancer, we specifically provide a more detailed review of methodologies that use ultrasound RF-spectrum parameters, B-scan texture features and Doppler measures for prostate tissue characterization. We present current and future directions of research aimed at computer-aided detection of prostate cancer and conclude that ultrasound is likely to play an important role in the field.

  2. Ultrasound

    Science.gov (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: October, 2014 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  3. Diagnóstico prenatal de artrogriposis múltiple congénita Prenatal diagnosis of arthrogryposis multiplex congenita

    Directory of Open Access Journals (Sweden)

    Ivonne Martínez Vidal

    2013-03-01

    Full Text Available La artrogriposis múltiple congénita puede definirse como una displasia articular sistémica, caracterizada por rigidez articular en múltiples localizaciones de forma congénita. Se presenta un caso en el que se diagnosticó prenatalmente este signo clínico, que puede tener múltiples causas subyacentes.Arthrogryposis multiplex congenita may be defined as a systemic articular dysplasia characterized by articular rigidity in a many locations of congenital origin. A case was presented in which this clinical sign was diagnosed at prenatal phase and it may have many underlying causes.

  4. Prenatal ultrasonic diagnosis of fetal interrupted aortic arch%胎儿主动脉弓离断产前超声诊断分析

    Institute of Scientific and Technical Information of China (English)

    董莹; 王玲; 赵晟; 郭宁; 肖蕾

    2014-01-01

    目的:探讨产前超声对胎儿主动脉弓离断(IAA)的诊断价值,分析漏、误诊原因,提高产前诊断率。方法回顾性分析16例胎儿主动脉弓异常超声图像特征,与正常胎儿超声图像、解剖结果进行对比研究,并分析胎儿IAA与染色体异常的相关性。结果16例产前诊断IAA病例,经解剖确诊15例,超声诊断正确率为94%(15/16),1例为主动脉弓严重缩窄(CoA),1例分型错误,3例产前超声不能分型病例获得明确分型,超声分型符合率为73%(11/15)。确诊的15例全部合并室间隔缺损,其中5例合并完全性心内膜垫缺损,合并心脏外畸形者9例。7例进行了染色体核型检查,3例18‐三体,1例13‐三体,3例正常,18‐三体发生率为43%(3/7)。结论产前超声对胎儿IAA的诊断准确率高,但在明确分型方面有待提高。胎儿IAA与严重CoA的鉴别存在困难。18‐三体在IAA胎儿染色体异常中发生率较高。%Objective To evaluate the value of prenatal ultrasound in the interrupted aortic arch (IAA), and analyze the reasons of misdiagnosis and improve diagnostic ratio of this kind of defects. Methods Ultrasonic characteristics were analyzed in 16 fetuses with aortic arch anomalies, which were compared with ultrasound image and autopsy results of the normal fetus. The relativity of fetal IAA and abnormal chromosome was also analyzed. Results Among the 16 cases, 15 cases were confirmed by anatomy and the accuracy of ultrasound diagnosis was 94% (15/16), of which one case was serious constriction of aortic arch, one case was error type, three cases were obtained explicit type due to unsatisfactory results of prenatal ultrasound. The coincidence rate of ultrasonic type was 73% (11/15). All of the corrected diagnosed cases were detected with ventricular septal, of which 5 cases were detected with complete endocardial cushion defect, 9 cases were found extra cardiac

  5. Computer-Aided Characterization and Diagnosis of Diffuse Liver Diseases Based on Ultrasound Imaging: A Review.

    Science.gov (United States)

    Bharti, Puja; Mittal, Deepti; Ananthasivan, Rupa

    2016-04-19

    Diffuse liver diseases, such as hepatitis, fatty liver, and cirrhosis, are becoming a leading cause of fatality and disability all over the world. Early detection and diagnosis of these diseases is extremely important to save lives and improve effectiveness of treatment. Ultrasound imaging, a noninvasive diagnostic technique, is the most commonly used modality for examining liver abnormalities. However, the accuracy of ultrasound-based diagnosis depends highly on expertise of radiologists. Computer-aided diagnosis systems based on ultrasound imaging assist in fast diagnosis, provide a reliable "second opinion" for experts, and act as an effective tool to measure response of treatment on patients undergoing clinical trials. In this review, we first describe appearance of liver abnormalities in ultrasound images and state the practical issues encountered in characterization of diffuse liver diseases that can be addressed by software algorithms. We then discuss computer-aided diagnosis in general with features and classifiers relevant to diffuse liver diseases. In later sections of this paper, we review the published studies and describe the key findings of those studies. A concise tabular summary comparing image database, features extraction, feature selection, and classification algorithms presented in the published studies is also exhibited. Finally, we conclude with a summary of key findings and directions for further improvements in the areas of accuracy and objectiveness of computer-aided diagnosis. © The Author(s) 2016.

  6. 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

    2016-03-01

    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.I n 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.

  7. Solid breast neoplasms: Differential diagnosis with pulsed Doppler ultrasound

    NARCIS (Netherlands)

    T.J.A. Kuijpers (T. J A); A.I.M. Obdeijn (Inge-Marie); Ph.M. Kruyt (Philip); M. Oudkerk (Matthijs)

    1994-01-01

    textabstractIn this prospective study, duplex Doppler ultrasound was used in 95 consecutive patients with solid breast masses to evaluate the presence of neovascular flow. A positive Doppler signal, i.e., a Doppler shift frequency of more than 1 kHz using a 5 MHz insonating frequency, was found in 3

  8. Prenatal diagnosis and postpartal therapy of fetal obstructions related to the urinary tract.

    Science.gov (United States)

    Meyer-Schwickerath, M; Bedow, W; Rascher, W

    1990-01-01

    114 fetal malformations were diagnosed by ultrasound in the years 1983-1987 at our institute. 32 of these malformations involved the urinary tract. Fetuses with multicystic dysplasic kidneys and oligohydramnios have only a poor prognosis. In obstructive uropathy, however, exact antenatal diagnosis makes early leads to specific postpartal urological therapy. Modern ultrasound equipment makes it possible to localize the site of obstruction and/or dilatation in fetuses. The amount of amnion fluid indicates the degree of obstruction and is an important factor the postpartal prognosis of the children. Relieve of obstruction should be the first step of urological therapy directly after birth. We prefer to perform reconstructive surgery as soon as possible in the first 2 to 3 weeks of life. In children with subpelvic stenosis pyeloplasty is performed in the first weeks of life. Our results of 13 pyeloplasties in newborn are favourable. In children with megaureters dynamic scintigraphy or pressure flow studies (Whitaker test) are performed to diagnose or to exclude obstruction as a cause of dilatation (n = 14). In case of obstruction we perform an ureterocutaneostomy (Ring- or Sober procedure) immediately. Urethral valves causing subvesical obstruction could be treated by transvesical antegrade valve ablation, performed in 9 newborn with good success.

  9. Termination of pregnancy after prenatal diagnosis of spina bifida: a German perspective.

    Science.gov (United States)

    Domröse, Christian M; Bremer, Sandra; Buczek, Caroline; Geipel, Annegret; Berg, Christoph; Gembruch, Ulrich; Willruth, Arne

    2016-10-01

    To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings. Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011. In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation. Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects.

  10. The current utility of ultrasound in the diagnosis of acute appendicitis.

    Science.gov (United States)

    Lourenco, Pedro; Brown, Jacquie; Leipsic, Jonathan; Hague, Cameron

    2016-01-01

    The purpose of this study is to evaluate the current performance of ultrasound in the diagnosis of acute appendicitis. Retrospectively, patients who presented to a single institution between 2011 and 2012 were included. Diagnostic accuracy was calculated, with surgery considered gold-standard. Our data demonstrates that US relative to surgery-confirmed appendicitis has a sensitivity and specificity of 48.4% and 97.9%, respectively. The diagnostic accuracy was further increased when there was a low pre-test probability, with a NPV of up to 96.6%. Ultrasound has a strong PPV in the diagnosis of acute appendicitis, and in equivocal cases, the NPV is reliable.

  11. Ultrasound

    Science.gov (United States)

    Ultrasound is a type of imaging. It uses high-frequency sound waves to look at organs and ... liver, and other organs. During pregnancy, doctors use ultrasound to view the fetus. Unlike x-rays, ultrasound ...

  12. Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Enrique García López

    2009-12-01

    Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

  13. 胎儿Apert综合征产前超声诊断研究%Prenatal diagnosis of Apert syndrome by sonography

    Institute of Scientific and Technical Information of China (English)

    黎文雅; 李胜利; 余艳红; 文华轩; 王晨虹

    2014-01-01

    examinations between January, 2010 to Februry, 2014 in our hospital were analyzed. The ultrasound images and postnatal outcome or autopsy were compared to analysis the sonographic features of Apert syndrome in prenatal. Results The prenatal ultrasound characteristics and pregnant outcome of the 4 fetuses were showed as followings:(1) Skull deformity:4 fetuses were all appeared as acrocephaly, coronal suture premature close and frontal protrusion, while 3 cases (case 1-3) had“clover leaf skull deformity”features. (2) Midfacial malformation deformity:3 cases (case 1-3) were all with hypertelorism and mid-sagittal facial proifle abnormal and only 1 case (case 2) had nose hypoplasia. (3) Limbs abnormal:4 cases were all appeared as bilateral symmetry syndactyly of hands and 1 case (case 2) was diagnosed as bilateral symmetry syndactyly of feet. (4) Associated abnormality:persistent right umbilical vein in 1 case (case1), thoracic spine stenosis in 1 case (case 2), hyperechogenic renal parenchyma in 1 case (case 3) and left-diaphragmatic hernia in 1 case (case 4). (5) The pregnant outcome:3 cases underwent pregnancy termination and 1 case was labored at term. The 3 cases (case1-3) were diagnosed as bilateral symmetry syndactyly of feet after induced labor. The cleft palate and bilateral symmetry syndactyly of feet were misdiagnosed in the full-time infant (case 3), who was died two days after birth. Conclusions The Apert syndrome is a rare syndrome. It generally has typical characteristic of prenatal ultrasound, such as coronal suture premature close, acrocephaly, mid-sagittal facial profile abnormal and bilateral symmetry syndactyly of hands and feet. Prenatal diagnosis of Apert syndrome can play an important role in genetic counseling and postnatal treatment.

  14. [Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging].

    Science.gov (United States)

    Brémond-Gignac, D; Copin, H; Elmaleh, M; Milazzo, S

    2010-05-01

    Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.

  15. The role of abdominal ultrasound in the diagnosis of typhoid fever: an observational study.

    Science.gov (United States)

    Younis, Saeed Nadhim

    2014-01-01

    To study the usefulness of abdominal ultrasound in the diagnosis of typhoid fever and to determine the common ultrasound findings early in the course of the disease. Abdominal ultrasound examination was performed within the first week of initiation of symptoms in 350 cases with clinical diagnosis of typhoid fever. Subsequent ultrasound follow-up examination was done 15 days later (beginning of the third week). All the patients proved to have positive Widal test and Sallmonella culture. The study was performed in Erbil-Iraq from the period January 1993 to October 2010. The following ultrasound findings were reported: hepatomegaly (31.4%), prominent intrahepatic bile ducts (64.85%), splenomegaly (100%), mesenteric lymphadenopathy (42.85%), bowel wall thickening (35.71%), acalculous cholecystitis (16.28%), perforations (1.14%), and ascites in (3.4%). The current study showed that the findings are typical enough to justify initiation of treatment for typhoid fever when serology is equivocal and culture is negative, and is fairly safe to say that normal ultrasound examination early in the course of febrile illness rules out typhoid fever. Copyright © 2013 Elsevier Ltd. All rights reserved.

  16. Molecular Basis and prenatal diagnosis of B- Thalassemia in Southeast if Iran

    Directory of Open Access Journals (Sweden)

    E. Miri Moghadam

    2005-01-01

    Full Text Available Background and purpose : bata thlassemia is the most common monogenic disorders in Iran. The gene frequency varies the country. Sistan and Baluchistan province, located in the southeast of iran with more than 1200 affected individuals, represents one of the regions where thalassemia id not only an important public health problem but also a socioeconomic problem. As a matter of fact high frequency of ß- thalassemia gene inter- family marriages, evasion of couples to carry out pre- marriage blood test, avoidance of counseling before wedding and eagerness for more children in spite of having ß - thalassemia kids collectively prompted us to eatablish prenatal diagnostic center in khordad 1381(May 2002 in this province.Materials and methods : 140 minor thalassemia couples were referred to our center from May 2002 to Feb. 2004. After admission of the couples to the center their demographic data were collected. 10 ml of blood sample was then collected from couples added with anti- coaqulant(0.5 M EDTA. DNA was subsequently extracted before being amplified by Refractory Mutation System(ARMS techniques vs the common primers of B- gene mutations in Iran. Within the 10 to 12th weeks of pregnancy, chorionic villi samples were taken and subjected onto two techniques namely direct and indirect. We afterwards evaluated the inheritance of mutation in the fetus from any of his/ her parents.Results : We carried out preliminary diagnosis for 56 couples, as well as first round and further step of prenatal diagnostic procedures for another 84 couples(n= 140. 79. 3% of the total number resided in cities, whereas 87.9% were born in Sistan and Baluchistan province. Out of which 30% and 70% had sistany and Baluchi ethnicity respectively. Furthermore, 60.7% had at least one affected child, while 85.7% had consanguineous marriages. Out of the totalnumber, 57.9% were from Sunni minority. 88.05% of the couples demonstrated one of the common mutations identified in Iran

  17. Assessing Health-Related Quality-of-Life in Prenatal Diagnosis Comparing Chorionic Villi Sampling and Amniocentesis: A Technical Report

    OpenAIRE

    David Feeny; Marie Townsend; William Furlong; Darrell Tomkins; Gail Robinson; George Torrance; Patrick Mohide; Qinan Wang

    2000-01-01

    Objectives. To assess the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA) prenatal diagnosis, including factors related to both the processes and the outcomes. Study Design. The HRQL of one hundred twenty six women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis o...

  18. Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

    OpenAIRE

    Camaschella, C.; Serra, A.; Saglio, G; Bertero, M T; Mazza, U; Terzoli, S; Brambati, B; Cremonesi, L.; Travi, M; Ferrari, M

    1988-01-01

    In the course of a prenatal diagnosis for beta thalassaemia by linkage analysis of restriction fragment length polymorphisms, a homozygous beta thalassaemia fetus was misdiagnosed as beta thalassaemia trait. Extensive studies of the polymorphic sites within the beta globin gene cluster in all the members of the family resulted in the conclusion that the paternal chromosome 11 of the newborn was different from that expected. Paternity was confirmed by HLA typing and blood group studies. The an...

  19. Prenatal ultrasonographic findings of cloacal anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2002-09-15

    To evaluate the ultrasonographic characteristic of a rare malformation comples, Cloacal anomaly on prenatal ultrasonography. From March 1991 to July 2001, eight cases with the persistent cloaca (4 cases in female and 1 case in male) and cloacal exstrophy (3 cases) diagnosed by prenatal ultrasound examination were included, and all of them were pathologically confirmed by autopsy. One radiologist retrospectively analyzed the prenatal sonographic images, including the urinary bladder, kidney, pelvic cyst, abdominal wall defect and amount of amniotic fluid. The ultrasonographic diagnosis was established at 21.8 {+-} 7.8 weeks of gestation. The prenatal ultrasonographic findings of the persistent cloaca were absent bladder (n=2), distended bladder (n=2) and small thick bladder (n=1). Sonography of the kidney showed normal (n=2), hydronephrosis (n=1), dysplasia (n=1) and unilateral hydronephrosis with absent contralateral kidney (n=1). Four fetuses showed septated pelvic cyst; three fetuses, oligohydramnios. The prenatal ultrasonographic findings of cloacal exstrophy included absent bladder (n=3), normal kidney (n=1), hydronephrosis (n=1) and absent kidney (n=1). All fetuses with cloacal exstrophy had abdominal wall defect while two of them had oligohydramnios. A prenatal diagnosis of persistent cloaca can be confidently made when there is septated pelvic cyst combined oligohydramnios, sediments within the cyst and intraluminal calcifications. Cloacal exstrophy should be included in diagnosis if there is a low abdominal wall defect with absent urinary bladder.

  20. Tools for improving the diagnosis of atherosclerotic plaque using ultrasound

    DEFF Research Database (Denmark)

    Jespersen, Søren Kragh

    1997-01-01

    topics have been investigated: an ultrasound pulse-echo simulation tool and a new compound imaging technique for improving visualization of atherosclerotic disease.A tool for simulation of the received electrical signal in a pulse-echo ultrasound system, due to a reflector surface of arbitrary geometry......, has been developed. The method is denoted the Diffraction Response Interpolation Method (DRIM) and is based on the pulse-echo diffraction impulse response method. The DRIM is a computationally efficient tool for calculating the integral of the spatially varying pulse-echo diffraction impulse response...... definition of the interfaces in the cases where one or more of the beams had near-normal incidence on the interface, i.e. an improved visualization over an angular range of interface orientations roughly corresponding to the range of beam angles used. The speckle statistics and the speckle reduction have...

  1. Periodic health examination, 1996 update: 1. Prenatal screening for and diagnosis of Down syndrome. Canadian Task Force on the Periodic Health Examination.

    OpenAIRE

    Dick, P. T.

    1996-01-01

    OBJECTIVE: To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres. OPTIONS: "Triple-marker" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS). OUTCOMES: Accuracy of detection of DS in fetuses, and ri...

  2. Subsequent Fertility of Goats with Prenatal Mortality Diagnosed by Ultrasound and Treated by PGF2α and Oxytetracycline

    Science.gov (United States)

    Aban, A. S.; Badawi, M. E.; Almubarak, A. M.

    2017-01-01

    Thirteen Saanen and Saanen crossbred female goats, between the ages of 6 months and 7, years were presented to the clinic, College of Veterinary Medicine, Sudan University of Science and Technology, for sonographic pregnancy diagnosis. Transabdominal ultrasound was performed using 3.5 MHz probe which revealed non-viable fetuses as judged by absence of heart beats and movements. Twelve goats were given single i/m injection of PGF2α analogue and 5% oxytetracycline. Ten goats responded to the treatment and six of them became pregnant and gave birth within the normal gestational period. One goat was diagnosed as non-pregnant, one goat developed hydrometra, and the subsequent fertility of two goats was unknown. Two full-term goats did not respond to treatment. Another dose of PGF2α was administered to them and again they did not respond. Manual attempts were done to deliver the full-term goat with dilated cervix and they were unsuccessful. Cesarean section and hysterectomy were then performed for the three full-term goats with unfavorable outcome. It can be concluded that ultrasound is a rapid, reliable, and nonhazardous procedure for the diagnosis of fetal mortality in goats and PGF2α treatment in conjunction with oxytetracycline is an efficient treatment. PMID:28116216

  3. Use of Doppler ultrasound for non-invasive urodynamic diagnosis

    Directory of Open Access Journals (Sweden)

    Hideo Ozawa

    2009-01-01

    Full Text Available Objectives: A totally non-invasive transperineal urodynamic technique using Doppler ultrasonography has been developed. Methods: Since normal urine does not have blood cells, urine was thought not to produce the Doppler effects. However, basic studies confirmed that the decrease of pressure at high velocity (Bernouilli effect caused dissolved gas to form microbubbles, which are detected by Doppler ultrasonography. Subjects sat and the probe was advanced via remote control to achieve gentle contact with the perineal skin. The digital uroflow data signals and the color Doppler ultrasound video images were processed on a personal computer. The flow-velocity curves from two sites; the distal prostatic urethra just above the external sphincter (V1 and the sphincteric urethra (V2 were plotted against time. The parameters of both the pressure-flow studies and the Doppler ultrasound urodynamic studies were compared in men who had various degrees of obstruction. Results: Functional cross-sectional area at prostatic urethra (A1, calculated by Q max /V1, was lower in the group of bladder outlet obstruction (BOO vs. control group. Velocity ratio (VR, which was calculated by V1/V2, was the parameter having the best correlation with BOO index, though A1 had a similar correlation. This method is viable to diagnose the degree of BOO. Conclusions: The development of non-invasive Doppler ultrasound videourodynamics (Doppler UDS will dramatically expand the information on voiding function.

  4. [Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province].

    Science.gov (United States)

    Zhou, Yu-qiu; Shang, Xuan; Yin, Bao-min; Xiong, Fu; Xiao, Qi-zhi; Zhou, Wan-jun; Zhang, Yong-liang; Xu, Xiang-min

    2012-02-01

    To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010. As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province, Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling. The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program. A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation (TIF). Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays. The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily. From January 1998 to December 2010, 85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded, the covering rates of premarital screening and prenatal screening in the city were 92.698% (from 1998 to 2003) and 27.667% (from 2004 to 2010), respectively. Totally 10 726 cases were found to be the carriers of thalassemias, with 7393 for α-thalassemia (5.237%, 7 393/141 166) and 3333 for β-thalassemia (2.361%, 3 333/141 166). A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia. Among them, 251 (97.7%, 251/257) couples were performed prenatal diagnosis. During the preventive control program, a total of 72 fetuses with severe thalassemias including hemoglobin H disease

  5. Assessment of transthoracic ultrasound diagnosis of ovine pulmonary adenocarcinoma in adult sheep.

    Science.gov (United States)

    Cousens, C; Scott, P R

    2015-10-10

    Ovine pulmonary adenocarcinoma (OPA), caused by Jaagsiekte sheep retrovirus (JSRV), is a disease of increasing concern in the sheep industry. There is no commercial antemortem test for OPA; therefore, an early evaluation phase study was undertaken to examine the accuracy of transthoracic ultrasound examination using a 5-6.5 MHz sector ultrasound machine widely available in veterinary practice in the UK to diagnose OPA. Restraint, preparation and examination time was restricted to five minutes per sheep to represent the cost limitations of commercial sheep farming. One hundred sheep were examined. All 41 cases identified with suspect OPA lesions during transthoracic ultrasound examination had the diagnosis confirmed at postmortem examination, while sheep without ultrasonographic changes characteristic of OPA had no gross lesions of OPA at postmortem examination. This demonstrates the specificity of transthoracic ultrasound for diagnosis of OPA. The authors propose that, in the absence of any other reliable preclinical diagnostic test, the use of transthoracic ultrasound examination should be considered for a second opinion on an initial diagnosis of OPA, for screening purchased adult flock replacements for OPA, or for screening sheep in a known OPA-affected flock. However, the authors emphasise that a negative scan cannot provide a guarantee that the animal is free of JSRV infection nor early OPA.

  6. Automated 3D ultrasound image segmentation for assistant diagnosis of breast cancer

    Science.gov (United States)

    Wang, Yuxin; Gu, Peng; Lee, Won-Mean; Roubidoux, Marilyn A.; Du, Sidan; Yuan, Jie; Wang, Xueding; Carson, Paul L.

    2016-04-01

    Segmentation of an ultrasound image into functional tissues is of great importance to clinical diagnosis of breast cancer. However, many studies are found to segment only the mass of interest and not all major tissues. Differences and inconsistencies in ultrasound interpretation call for an automated segmentation method to make results operator-independent. Furthermore, manual segmentation of entire three-dimensional (3D) ultrasound volumes is time-consuming, resource-intensive, and clinically impractical. Here, we propose an automated algorithm to segment 3D ultrasound volumes into three major tissue types: cyst/mass, fatty tissue, and fibro-glandular tissue. To test its efficacy and consistency, the proposed automated method was employed on a database of 21 cases of whole breast ultrasound. Experimental results show that our proposed method not only distinguishes fat and non-fat tissues correctly, but performs well in classifying cyst/mass. Comparison of density assessment between the automated method and manual segmentation demonstrates good consistency with an accuracy of 85.7%. Quantitative comparison of corresponding tissue volumes, which uses overlap ratio, gives an average similarity of 74.54%, consistent with values seen in MRI brain segmentations. Thus, our proposed method exhibits great potential as an automated approach to segment 3D whole breast ultrasound volumes into functionally distinct tissues that may help to correct ultrasound speed of sound aberrations and assist in density based prognosis of breast cancer.

  7. Application of chromosomal microdissection, polymerase chain reaction (PCR), and reverse chromosome painting in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, N.; Xu, J.; Cedrone, E. [Univ. of Rochester School of Medicine, Rochester, NY (United States)

    1994-09-01

    De novo marker chromosomes have been found in about 0.04% of amniotic fluid cultures. The origin of these marker chromosomes is difficult to identify by routine chromosome banding analysis. In the present study, we applied microdissection, PCR, and reverse chromosome painting to two amniotic fluid cases with a karyotype of 47,XX,+mar, and 47,XX,+?i(9p), respectively. Fluorescence in situ hybridization of the biotin-labeled DNA probe generated from 5 copies of the dissected marker chromosomes was applied to the normal metaphase spreads and revealed that the marker originated from the p arm of chromosomes 14 and 22, while the ?i(9p) was actually i(4p). Reverse painting of the same probe to the metaphase spreads of the patients completely painted the marker chromosomes in question, which confirms the accuracy of the analysis. Our study provides an example of the application of chromosome microdissection and molecular cytogenetics in prenatal diagnosis for the identification of marker chromosomes unidentifiable by routine analysis.

  8. Effectiveness of β-thalassemia prenatal diagnosis in Southern Iran: a cohort study.

    Science.gov (United States)

    Moghadam, Mohamad; Karimi, Mehran; Dehghani, Seyed Javad; Dehbozorgian, Javad; Montazeri, Somaye; Javanmardi, Elham; Asadzade, Rahimeh; Amiri, Azizollah; Saghatoleslam, Zahra; Sotodegan, Fatemosadat; Morshedi, Nazila; Imanifard, Jaber; Afrasiabi, Abdolreza

    2015-12-01

    The aim of this study was to evaluate the effectiveness of prenatal diagnosis (PND) for the prevention of thalassemia in Southern Iran. From 2004 to 2012 1346 couples with β-thalassemia minor were referred to our center. Mutation analyses utilized different methods including polymerase chain reaction-based technique of amplification refractory mutation system (ARMS), Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis and direct sequencing. Haplotype analysis of the β-globin gene cluster was done routinely using the PCR-RFLP technique. Of the 1346 couples, 884 (66%) requested PND. They had a total of 985 pregnancies (954 singleton and 31 twin pregnancies): the 1016 fetuses underwent chorionic villus sampling (CVS). Thalassemia major was diagnosed in 266 cases (26.2%), and termination of pregnancy was requested by the parents in 264 of them (99%). Thalassemia trait was detected in 499 (49.1%) and 251 cases (24.7%) showed no β-thalassemia mutations. There were three misdiagnoses (0.4%) (affected children diagnosed as carriers at PND). A unique pattern of thalassemia mutations was present in the study population, with IVS II-I (G→A), C36-37(-T), IVS I-5(G>C), -25bpdel (252-276), IVS I-110(G>A) and C44 (-C) being present in 62% of cases. The pattern of distribution of thalassemia mutations differs among ethnic groups within the same country. © 2015 John Wiley & Sons, Ltd.

  9. Prenatal diagnosis and selective abortion: a result of the cultural turn?

    Science.gov (United States)

    Bromage, D I

    2006-06-01

    There is a growing trend in obstetric medicine of prenatal diagnosis and the selective abortion of foetuses that are likely to be born with a disability. Reasons commonly given to explain this trend include the financial implications of screening and testing policies, the disruption to families caused by the birth of a child with a disability, and the potential quality of life of the unborn child. This paper reflects upon another possible reason for this. It is argued that it is, in part, a consequence of our attitudes towards disability and a pursuit of aesthetic perfection. These attitudes arise from a social context that may be explained by considering the effect on the disabled community of the transition from modernity to postmodernity. This shift is demonstrated by inspecting some of the synonymous developments in art history. It is suggested that this "cultural turn" may have both helped and hindered people with disabilities, but the hypothesis requires further testing. This could best be achieved with a qualitative study of what motivates parental decision making in the obstetric unit.

  10. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis.

    Science.gov (United States)

    Miyano, Go; Morita, Keiichi; Kaneshiro, Masakatsu; Miyake, Hiromu; Koyama, Mariko; Nouso, Hiroshi; Yamoto, Masaya; Nakano, Reiji; Tanaka, Yasuhiko; Nishiguchi, Tomizo; Kawamura, Takakazu; Fukumoto, Koji; Urushihara, Naoto

    2015-01-01

    We describe herein a case of unilateral pulmonary agenesis (PA) with oesophageal atresia (EA)/tracheoesophageal fistula (TEF) that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4 th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; thi