Prenatal care in your third trimester

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... this page: //medlineplus.gov/ency/patientinstructions/000558.htm Prenatal care in your third trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

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

DEFF Research Database (Denmark)

Hauerberg, Laura; Skibsted, Lillian; Graem, Niels

2012-01-01

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

FIRST-TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN AS A MARKER FOR FETAL CHROMOSOMAL DISORDERS

NARCIS (Netherlands)

VANLITH, JMM

1994-01-01

We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal

Prenatal Diagnosis of Congenital Cytomegalovirus Infection

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Lazzarotto, T.; Guerra, B.; Spezzacatena, P.; Varani, S.; Gabrielli, L.; Pradelli, P.; Rumpianesi, F.; Banzi, C.; Bovicelli, L.; Landini, M. P.

1998-01-01

We report here the results of a study on the prenatal diagnosis of congenital cytomegalovirus (CMV) infection. The study was carried out by both PCR and virus isolation from amniotic fluid (AF) for 82 pregnant women at risk of transmitting CMV for the detection of (i) seroconversion to CMV immunoglobulin G (IgG) positivity during the first trimester of pregnancy, (ii) symptomatic CMV infection in the mother during the first trimester of pregnancy or intrauterine growth retardation detected by ultrasound or abnormal ultrasonographic findings suggestive of fetal infections, and (iii) seropositivity for CMV-specific IgM. For 50 women, fetal blood (FB) was also obtained and tests for antigenemia and PCR were performed. The results indicate that AF is better than FB for the prenatal diagnosis of CMV infection. PCR with AF has a sensitivity (SNS) of 100%, a specificity (SPE) of 83.3%, a positive predictive value (PPV) of 40%, and a negative predictive value (NPV) of 100%; rapid virus isolation with the same material has an SNS of 50%, an SPE of 100%, a PPV of 100%, and an NPV of 94.7%. Fewer than 10% of the women positive for IgM by enzyme immunoassay (EIA) had a congenitally infected fetus or newborn infant. When EIA IgM positivity was confirmed by Western blotting (WB) and the WB profile was considered, the percent transmission detected among women with an “at-risk” profile was higher than that observed among IgM-positive women and was the same as that among women who seroconverted during the first trimester of pregnancy (transmission rates of 29 and 25%, respectively). PMID:9817869

Ultrasound detection of placenta accreta in the first trimester of pregnancy.

Science.gov (United States)

Rahimi-Sharbaf, Fatemeh; Jamal, Ashraf; Mesdaghinia, Elaheh; Abedzadeh-Kalahroudi, Masoumeh; Niroomanesh, Shirin; Atoof, Fatemeh

2014-06-01

Placenta accreta is considered a life-threatening condition and the main cause of maternal mortality. Prenatal diagnosis of placenta accreta usually is made by clinical presentation, imaging studies like ultrasound and MRI in the second and third trimester. To determine accuracy of ultrasound findings for placenta accreta in the first trimester of pregnancy. In a longitudinal study 323 high risk patients for placenta accreta were assessed. The eligible women were examined by vaginal and abdominal ultrasound for gestational sac and placental localization and they were followed up until the end of pregnancy. The ultrasound findings were compared with histopathological examinations as a gold standard. The sensitivity, specificity, positive and negative predictive value of ultrasound were estimated for the first trimester and compared with other 2 trimesters in the case of repeated ultrasound examination. Ultrasound examinations in the first trimester revealed that 28 cases had the findings in favor of placenta accreta which ultimately was confirmed in 7 cases. The ultrasound sensitivity and specificity for detecting placenta accreta in the first trimester was 41% [95% CI: 16.2-62.7] and 88% [95% CI: 88.2-94.6] respectively. Ultrasound screening for placenta accreta in the first trimester of pregnancy could not achieve the high sensitivity as second and third trimester of pregnancy.

HIVThe influence of HIV status on prenatal genetic diagnosis choices

African Journals Online (AJOL)

HIVThe influence of HIV status on prenatal genetic diagnosis choices. JS Bee, M Glass, JGR Kromberg. Abstract. Background. At-risk women of advanced maternal age (AMA) can choose to have second-trimester invasive testing for a prenatal genetic diagnosis on the fetus. Being HIV-positive can complicate the ...

Conjoined twins detected in the first trimester: A review

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2011-12-01

Full Text Available Conjoined twinning occurs in 1 in 100 sets of monozygotic twins, 1 in 50,000 gestations or 1 in 250,000 live births. With the advent of ultrasound technology, prenatal diagnosis of conjoined twins is possible. This article provides a comprehensive review of conjoined twins detected in the first trimester including fetal gender, maternal age, parity, types of fusion, related ultrasound abnormalities, perinatal outcome and association with assisted reproduction.

Prenatal diagnosis of sirenomelia in the first trimester: A case report

OpenAIRE

Ceylan, Yasin; Do?an, Yasemin; ?zkan ?zdemir, Sebiha; Y?cesoy, G?lseren

2016-01-01

Sirenomelia or ?mermaid syndrome? is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnios at 12 weeks of gestation. Her medical history was unremarkable. There was no family history of gen...

Recommendations for the use of microarrays in prenatal diagnosis.

Science.gov (United States)

Suela, Javier; López-Expósito, Isabel; Querejeta, María Eugenia; Martorell, Rosa; Cuatrecasas, Esther; Armengol, Lluis; Antolín, Eugenia; Domínguez Garrido, Elena; Trujillo-Tiebas, María José; Rosell, Jordi; García Planells, Javier; Cigudosa, Juan Cruz

2017-04-07

Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

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Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

First Trimester Prenatal Care Initiation Among Hispanic Women Along the U.S.-Mexico Border

OpenAIRE

Selchau, Katherine; Babuca, Maricela; Bower, Kara; Castro, Yara; Coakley, Eugenie; Flores, Araceli; Garcia, Jonah O.; Reyes, Maria Lourdes F.; Rojas, Yvonne; Rubin, Jason; Samuels, Deanne; Shattuck, Laura

2017-01-01

Background First trimester prenatal care (FTPNC) is associated with improved birth outcomes. U.S.-Mexico border Hispanic women have lower FTPNC than non-border or non-Hispanic women. This study aimed to identify (1) what demographic, knowledge and care-seeking factors influence FTPNC among Hispanic women in border counties served by five Healthy Start sites, and (2) what FTPNC barriers may be unique to this target population. Healthy Starts work to eliminate disparities in perinatal health in...

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

Science.gov (United States)

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

2008-11-01

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

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

International Nuclear Information System (INIS)

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

2008-01-01

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

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.

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.

First trimester diagnosis of sirenomelia: a case report and review of the literature.

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Akbayir, Ozgur; Gungorduk, Kemal; Sudolmus, Sinem; Gulkilik, Ahmet; Ark, Cemal

2008-12-01

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.

Prenatal ultrasound diagnosis of omphalocele

International Nuclear Information System (INIS)

Rio Romero, Luskenia del; Blanco Figueredo, Nadia; Rodriguez Dominguez, Zulay

2014-01-01

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient inquest made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Pathologically the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele

Representing and intervening: 'doing' good care in first trimester prenatal knowledge production and decision-making

DEFF Research Database (Denmark)

Schwennesen, Nete; Koch, Lene

2012-01-01

This article investigates processes of knowledge production and decision-making in the practice of the first trimester prenatal risk assessment (FTPRA) at an ultrasound clinic in Denmark. On the basis of ethnographic material and interviews with professionals facilitating FTPRAs in Denmark, we draw...... attention to the active engagement of health professionals in this process. Current professional and policy debate over the use of prenatal testing emphasises the need for informed choice making and for services that provide prospective parents with what is referred to as 'non-directive counselling...... of reducing emotional suffering and supporting a pregnant woman's ability to make meaningful choices on the basis of uncertain knowledge. As such, these practices can be seen as representing another (caring) solution to the problem of paternalism and authoritarian power. In opposition to an ethics aiming...

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.)

Risk and uncertainty: shifting decision making for aneuploidy screening to the first trimester of pregnancy.

Science.gov (United States)

Farrell, Ruth M; Dolgin, Natasha; Flocke, Susan A; Winbush, Victoria; Mercer, Mary Beth; Simon, Christian

2011-05-01

The clinical introduction of first trimester aneuploidy screening uniquely challenges the informed consent process for both patients and providers. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening. Qualitative data were collected by nine focus groups that comprised women of different reproductive histories (N = 46 participants). Discussions explored themes regarding patient decision making for first trimester aneuploidy screening. Sessions were audio recorded, transcribed, coded, and analyzed to identify themes. Multiple levels of uncertainty characterize the decision-making process for first trimester aneuploidy screening. Baseline levels of uncertainty existed for participants in the context of an early pregnancy and the debate about the benefit of fetal genetic testing in general. Additional sources of uncertainty during the decision-making process were generated from weighing the advantages and disadvantages of initiating screening in the first trimester as opposed to waiting until the second. Questions of the quality and quantity of information and the perceived benefit of earlier access to fetal information were leading themes. Barriers to access prenatal care in early pregnancy presented participants with additional concerns about the ability to make informed decisions about prenatal genetic testing. The option of the first trimester aneuploidy screening test in early pregnancy generates decision-making uncertainty that can interfere with the informed consent process. Mechanisms must be developed to facilitate informed decision making for this new form of prenatal genetic screening.

First-trimester emergencies: a radiologist's perspective.

Science.gov (United States)

Phillips, Catherine H; Wortman, Jeremy R; Ginsburg, Elizabeth S; Sodickson, Aaron D; Doubilet, Peter M; Khurana, Bharti

2018-02-01

The purpose of this article is to help the practitioner ensure early diagnosis and response to emergencies in the first trimester by reviewing anatomy of the developing embryo, highlighting the sonographic appearance of common first-trimester emergencies, and discussing key management pathways for treating emergent cases. First-trimester fetal development is a stepwise process that can be challenging to evaluate in the emergency department (ED) setting. This is due, in part, to the complex anatomy of early pregnancy, subtlety of the sonographic findings, and the fact that fewer than half of patients with ectopic pregnancy present with the classic clinical findings of a positive pregnancy test, vaginal bleeding, pelvic pain, and tender adnexa. Ultrasound (US) has been the primary approach to diagnostic imaging of first-trimester emergencies, with magnetic resonance imaging (MRI) and computed tomography (CT) playing a supportive role in a small minority of cases. Familiarity with the sonographic findings diagnostic of and suspicious for early pregnancy failure, ectopic pregnancy, retained products of conception, gestational trophoblastic disease, failed intrauterine devices, and complications associated with assisted reproductive technology (ART) is critical for any emergency radiologist. Evaluation of first-trimester emergencies is challenging, and knowledge of key imaging findings and familiarity with management pathways are needed to ensure early diagnosis and response.

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Science.gov (United States)

Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika

2012-11-01

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

DEFF Research Database (Denmark)

Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

2004-01-01

OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

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

Science.gov (United States)

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

2018-03-31

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

The reverse boomerang sign: a marker for first-trimester transposition of great arteries.

Science.gov (United States)

Bravo-Valenzuela, Nathalie Jeanne; Peixoto, Alberto Borges; Araujo Júnior, Edward; Da Silva Costa, Fabricio; Meagher, Simon

2017-10-12

To describe a new sonographic marker of transposition of great arteries (TGA) during the first-trimester screening. We reviewed six cases of TGA from 2013 to 2016 in which an antenatal diagnosis of TGA at first-trimester screening (11-13 + 6 weeks of gestation) was confirmed postnatally. We specifically assessed images obtained by scanning the fetal heart in three vessels (3V) and three-vessel with trachea (3VT) views using color Doppler. The "reverse boomerang" sign was defined as a reverse curvature of right ventricle outflow tract (RVOT) at level of the 3VT view. We described six cases of confirmed TGA, five singletons and one twin pregnancy, among which only two vessels and the reverse curvature of RVOT (reverse boomerang sign) was demonstrated in the first-trimester screening at level of 3VT view. Ventricular septal defects were observed in three cases, and double outlet right ventricle in one case. No other cardiac or extracardiac anomalies were identified. Termination of pregnancy was not performed in any case. Our series case suggests that the reverse boomerang sign may improve the early prenatal screening for TGA.

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound.

Science.gov (United States)

Yang, Pei-Yin; Wu, Ching-Hua; Yeh, Guang-Perng; Hsieh, Charles Tsung-Che

2015-12-01

Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diprosopus twins are more illustrative in 3D ultrasound than in 2D ultrasound. After counseling, termination of pregnancy was chosen by the couple. Although necropsy was declined, the gross appearance and radiograph of the abortus confirmed our diagnosis. With the help of 3D ultrasound, we made an early and definitive diagnosis of conjoined twins. Copyright © 2015. Published by Elsevier B.V.

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

Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation: case report and review of literature.

Science.gov (United States)

Papantoniou, Nikolaos; Papoutsis, Dimitrios; Daskalakis, Georgios; Chatzipapas, Ioannis; Sindos, Michael; Papaspyrou, Irini; Mesogitis, Spiridon; Antsaklis, Aris

2010-10-01

We present a case report of a foetus with Prune-Belly syndrome (PBS) which was diagnosed sonographically during the 13th week of gestation and review of the literature. Sonographic diagnosis was based on abnormally distended urinary bladder and abdomen and absence of 'keyhole sign'. Termination was performed on parental request and post-mortem examination revealed absence of abdominal wall musculature and the distended urinary bladder in a male foetus. Prenatal diagnosis of PBS is based on ultrasound and is usually diagnosed in the second trimester. In the first trimester there are very few reports to date. Prognosis and possible treatment options are herein discussed as well as the underlying mechanisms that may explain the clinical presentation of the syndrome.

Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population.

Science.gov (United States)

McLennan, Andrew; Palma-Dias, Ricardo; da Silva Costa, Fabricio; Meagher, Simon; Nisbet, Debbie L; Scott, Fergus

2016-02-01

There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005). NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

Two- and three-dimensional prenatal sonographic diagnosis of prune-belly syndrome.

Science.gov (United States)

Chen, Lizhu; Cai, Ailu; Wang, Xiaoguang; Wang, Bing; Li, Jingyu

2010-06-01

We report the prenatal diagnosis of 6 cases of Prune-belly syndrome in the 2(nd) trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2-dimensional sonographic examination. We discuss the role of Doppler imaging and 3-dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects.

Prenatal dichlorodiphenyldichloroethylene (DDE) exposure and child growth during the first year of life

International Nuclear Information System (INIS)

Garced, Sheyla; Torres-Sánchez, Luisa; Cebrián, Mariano E.; Claudio, Luz; López-Carrillo, Lizbeth

2012-01-01

Background: Due to its long-term persistence in the environment and its ability to cross the placental barrier, prenatal p,p′-dichlorodiphenyldichloroethene (DDE) exposure continues to be a public health concern. This study aimed to evaluate the association between prenatal DDE exposure and child growth, at birth and during the first year of life. Methods: 253 pregnant women were recruited between January 2001 and June 2005 in a prospective cohort in Morelos, Mexico. Serum levels of DDE were measured during each trimester of pregnancy by gas chromatography with an electron capture detector. Using the generalized mixed-effects models, the association between DDE and child growth parameters (weight-for-age, length-for-age, weight-for-length, BMI-for-age and head circumference-for-age Z-scores) from birth to 1 year of age was assessed. Maternal dietary intake was considered as covariable among others. Results: DDE levels were 6.3±2.8 ng/mL (first trimester), 6.6±2.9 ng/mL (second trimester), and 7.6±2.9 ng/mL (third trimester). After adjusting for potential confounder variables, no significant associations were observed with prenatal DDE exposure and each of the selected parameters. Conclusions: Our results show no evidence of an association between prenatal DDE exposure and child growth during the first year of life.

First trimester nicotine exposure and the risk of infantile colic

DEFF Research Database (Denmark)

Milidou, Ioanna; Henriksen, Tine Brink; Jensen, Morten Søndergaard

Background: Although prenatal exposure to maternal smoking has been associated with infantile colic (IC), to date no published studies have reported on the relationship between the prenatal use of nicotine replacement therapy (NRT) and IC. Aim: We aimed to assess the relationship between fetal...... exposure to nicotine, coming from both cigarette smoking and use of NRT early in pregnancy, and IC. Methods: The study population consisted of 63,883 pregnancies that resulted in live born singletons enrolled in the Danish National Birth Cohort between 1997 and 2002. Mother’s smoking habits and use of NRT......: The results indicate that prenatal exposure to nicotine from any source during the first trimester of the pregnancy increases the risk of infantile colic....

Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.

Science.gov (United States)

Ono, Tetsuo; Katsura, Daisuke; Tsuji, Shunichiro; Yomo, Hiroko; Ishiko, Akiko; Inoue, Takashi; Kita, Nobuyuki; Takahashi, Kentaro; Murakami, Takashi

2011-10-01

Sirenomelia is a rare congenital syndrome that is characterized by the anomalous development of the caudal region of the body. The anomalies include bilateral renal agenesis or dysgenesis and the absence of the sacrum and other vertebral defects. Sirenomelia is also known as "mermaid syndrome," because of the one lower extremity. It is usually associated with severe oligohydramnios, and its prognosis is very poor due to pulmonary hypoplasia that is caused by severe oligohydramnios. The patient referred to our hospital at the gestational age of 27 weeks with fetal growth restriction and oligohydramnios. The estimated fetal body weight was 970 g (-4.9 S.D.). We could identify only one-side extremities, and could not identify kidneys by ultrasound examination. Because a single lower extremity and severe oligohydramnios are characteristics of the sirenomelia, we suspected sirenomelia. However, it could not be confirmed by ultrasound examination because of oligohydramnios. Therefore, we performed three-dimensional helical computed tomography (3D-CT), which is more accurate than ultrasound examinations for prenatal diagnosis of skeletal abnormalities. 3D-CT revealed an only one lower extremity. At 36 weeks and 5 days of gestation, the woman went into spontaneous labor and delivered an infant weighing 870 g. The infant has a single upper extremity and a single lower extremity. We provided supportive care for the neonate, who however died 1 hour 36 minutes after birth from severe respiratory distress. In summary, we report the correct diagnosis of sirenomelia with 3D-CT in the late second trimester.

First Trimester Prenatal Care Initiation Among Hispanic Women Along the U.S.-Mexico Border.

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Selchau, Katherine; Babuca, Maricela; Bower, Kara; Castro, Yara; Coakley, Eugenie; Flores, Araceli; Garcia, Jonah O; Reyes, Maria Lourdes F; Rojas, Yvonne; Rubin, Jason; Samuels, Deanne; Shattuck, Laura

2017-12-01

Background First trimester prenatal care (FTPNC) is associated with improved birth outcomes. U.S.-Mexico border Hispanic women have lower FTPNC than non-border or non-Hispanic women. This study aimed to identify (1) what demographic, knowledge and care-seeking factors influence FTPNC among Hispanic women in border counties served by five Healthy Start sites, and (2) what FTPNC barriers may be unique to this target population. Healthy Starts work to eliminate disparities in perinatal health in areas with high poverty and poor birth outcomes. Methods 403 Hispanic women of reproductive age in border communities of California, Arizona, New Mexico and Texas were surveyed on knowledge and behaviors related to prenatal care (PNC) and basic demographic information. Chi square analyses and logistic regressions were used to identify important relationships. Results Chi square analyses revealed that primiparous women were significantly less likely to start FTPNC than multiparous women (χ 2 = 6.8372, p = 0.0089). Women with accurate knowledge about FTPNC were more likely to obtain FTPNC (χ 2  = 29.280, p < .001) and more likely to have seen a doctor within the past year (χ 2  = 5.550, p = .018). Logistic regression confirmed that multiparity was associated with FTPNC and also that living in Texas was negatively associated with FTPNC (R 2  = 0.066, F(9,340) = 2.662, p = .005). Among 27 women with non-FTPNC, barriers included late pregnancy recognition (n = 19) and no medical insurance (n = 5). Conclusions This study supports research that first time pregnancies have lower FTPNC, and demonstrated a strong association between delayed PNC and late pregnancy recognition. Strengthened investments in preconception planning could improve FTPNC in this population.

First trimester phthalate exposure and anogenital distance in newborns

Science.gov (United States)

Swan, S.H.; Sathyanarayana, S.; Barrett, E.S.; Janssen, S.; Liu, F.; Nguyen, R.H.N.; Redmon, J.B.; Liu, Fan; Scher, Erica; Stasenko, Marina; Ayash, Erin; Schirmer, Melissa; Farrell, Jason; Thiet, Mari-Paule; Baskin, Laurence; Gray Chelsea Georgesen, Heather L.; Rody, Brooke J.; Terrell, Carrie A.; Kaur, Kapilmeet; Brantley, Erin; Fiore, Heather; Kochman, Lynda; Parlett, Lauren; Marino, Jessica; Hulbert, William; Mevorach, Robert; Pressman, Eva; Ivicek, Kristy; Salveson, Bobbie; Alcedo, Garry

2015-01-01

STUDY QUESTION Is first trimester phthalate exposure associated with anogenital distance (AGD), a biomarker of prenatal androgen exposure, in newborns? SUMMARY ANSWER Concentrations of diethylhexyl phthalate (DEHP) metabolites in first trimester maternal urine samples are inversely associated with AGD in male, but not female, newborns. WHAT IS KNOWN ALREADY AGD is a sexually dimorphic measure reflecting prenatal androgen exposure. Prenatal phthalate exposure has been associated with shorter male AGD in multiple animal studies. Prior human studies, which have been limited by small sample size and imprecise timing of exposure and/or outcome, have reported conflicting results. STUDY DESIGN, SIZE, DURATION The Infant Development and the Environment Study (TIDES) is a prospective cohort study of pregnant women recruited in prenatal clinics in San Francisco, CA, Minneapolis, MN, Rochester, NY and Seattle, WA in 2010–2012. Participants delivered 787 infants; 753 with complete data are included in this analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS Any woman over 18 years old who was able to read and write English (or Spanish in CA), who was <13 weeks pregnant, whose pregnancy was not medically threatened and who planned to deliver in a study hospital was eligible to participate. Analyses include all infants whose mothers provided a first trimester urine sample and who were examined at or shortly after birth. Specific gravity (SpG) adjusted concentrations of phthalate metabolites in first trimester urine samples were examined in relation to genital measurements. In boys (N = 366), we obtained two measures of anogenital distance (AGD) (anoscrotal distance, or AGDAS and anopenile distance, AGDAP) as well as penile width (PW). In girls (N = 373), we measured anofourchette distance (AGDAF) and anoclitoral distance (AGDAC). We used multivariable regression models that adjusted for the infant's age at exam, gestational age, weight-for-length Z-score, time of day of urine

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

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Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

2016-10-01

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

Science.gov (United States)

Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T

1998-04-01

To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

Second trimester cardiac diagnosis : screening standards and outcomes

NARCIS (Netherlands)

Clur, Sally-Ann B.; Bilardo, Caterina M.

2014-01-01

Second trimester screening for congenital heart defects occurs during the routine 18-20 weeks' anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however,

Second trimester cardiac diagnosis: screening standards and outcomes

NARCIS (Netherlands)

Clur, Sally-Ann B.; Bilardo, Caterina M.

2014-01-01

Second trimester screening for congenital heart defects occurs during the routine 18-20 weeks' anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however,

[A cohort study on association between the first trimester phthalates exposure and fasting blood glucose level in the third trimester].

Science.gov (United States)

Zhang, Y W; Gao, H; Huang, K; Xu, Y Y; Sheng, J; Tao, F B

2017-03-10

Objective: To examine the association between the phthalate exposure in the first trimester and fasting blood glucose level or gestational diabetes mellitus (GDM) in the third trimester in pregnant women. Methods: A total of 3 474 pregnant women, receiving their prenatal examination in Ma' anshan Maternal and Child Health-Care Hospital of Anhui province, were selected from May 2013 to September 2014. Questionnaires were used to collect the information about their socio-demographic characteristics, clinical characteristics and GDM diagnostic results in the first, second and third trimesters. Urine samples and fasting venous blood samples were collected. Concentrations of 7 kinds of phthalate metabolites in urine samples were detected by solid phase extraction-high performance liquid chromatography-tandem mass spectrometry (SPE-HPLC-MS/MS), and multiple linear regression model was used for statistical analyses. Logistic regression analysis on the risk of the first trimester phthalate exposure for GDM in the third trimester was conducted. Results: The prevalence of GDM in this study was 12.8%, monomethyl phthalate (MMP), monoethyl phthalate (MEP), mono-n-butyl phthalate (MBP), monobenzyl phthalate (MBzP) and mono-(2-ethyl-5-oxohexyl) phthalate (MEHHP) exposure levels were positively correlated with the fasting blood glucose level in the third trimester ( P levels were negatively correlated with the fasting blood glucose level in the third trimester ( P blood glucose level in both normal group and GDM group. However, MMP, MEP, MBP, MBzP, MEHP and MEOHP exposure levels had influences on the third trimester fasting blood glucose level in normal group but not in GDM group. MMP and MBP exposure might increase the risk of GDM, but MEOHP exposure might reduce the risk of GDM. Conclusion: The phthalate exposure in the first trimester might be associated with the fasting blood glucose level in the third trimester, MMP, MEP, MBP, MBzP and MEHHP concentrations were positively

Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging.

Science.gov (United States)

Sahinoglu, Zeki; Yapicier, Ozlem; Ozcan, Nahit

2016-10-01

Periventricular nodular heterotopia (PNH) is usually missed on prenatal sonographic examinations, even on targeted scans. Irregular ventricular walls on axial view and irregular square-shaped lateral ventricles on coronal view are suggestive of PNH in the early third trimester. To achieve an early prenatal diagnosis, it is important to keep in mind the possible coexistence of PNH with brain malformations such as ventriculomegaly, posterior fossa anomalies, or agenesis of corpus callosum. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:510-513, 2016. © 2016 Wiley Periodicals, Inc.

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

Science.gov (United States)

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

2007-07-01

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

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

Science.gov (United States)

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

2017-10-25

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

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.

Science.gov (United States)

Wünsche, S; Jüngert, J; Faschingbauer, F; Mommsen, H; Goecke, T; Schwanitz, K; Stepan, H; Schneider, H

2015-08-01

Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions. © Georg Thieme Verlag KG Stuttgart · New York.

Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester.

Science.gov (United States)

Sepulveda, W; Wong, A E; Viñals, F; Andreeva, E; Adzehova, N; Martinez-Ten, P

2012-02-01

To describe a new ultrasound technique that may be useful for the diagnosis of micrognathia in the first trimester of pregnancy. The retronasal triangle (RNT) view is a technique that captures the coronal plane of the face in which the primary palate and the frontal processes of the maxilla are visualized simultaneously. Normal first-trimester fetuses display a characteristic gap between the right and left body of the mandible in this view (the 'mandibular gap'). The presence or absence of this gap was evaluated and measured prospectively during real-time scanning (n = 154) and retrospectively by analyzing three-dimensional (3D) datasets (n = 50) in normal first-trimester fetuses undergoing screening for aneuploidy at 11-13 weeks' gestation. 3D datasets from 12 fetuses with suspected micrognathia were also collected and examined retrospectively for the same features. The mandibular gap was identified in all 204 normal fetuses and increased linearly with increasing crown-rump length (y = 0.033x + 0.435; R(2) = 0.316), with no statistically significant differences between measurements obtained by two-dimensional ultrasound and 3D offline analysis. Among fetuses with suspected micrognathia, three 3D datasets were excluded from analysis because of poor image quality in one and the diagnosis of a normal chin in two. In the remaining nine fetuses, the mandibular gap was absent and was replaced by a bony structure representing the receding chin in seven (77.8%) cases and was not visualized due to severe retrognathia in the remaining two (22.2%) cases. All fetuses with micrognathia had associated anomalies, including seven with aneuploidy and two with skeletal dysplasia. The RNT view may be a helpful technique for detecting micrognathia in the first trimester. The absence of the mandibular gap or failure to identify the mandible in this view is highly suggestive of micrognathia and should prompt a targeted ultrasound scan to assess for other anomalies. Further research is

First and second trimester screening for fetal structural anomalies.

Science.gov (United States)

Edwards, Lindsay; Hui, Lisa

2018-04-01

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

The Importance of a Late First Trimester Placental Sonogram in Patients at Risk of Abnormal Placentation

Directory of Open Access Journals (Sweden)

Felipe Moretti

2014-01-01

Full Text Available Background. Placenta accreta is a potentially life-threatening obstetrical condition and is responsible for many emergency Caesarean hysterectomies. Early prenatal diagnosis may help minimize maternal morbidity and mortality. This report highlights risk factors, early diagnostic findings and complications associated with placenta accreta, and the role of first trimester sonography in diagnosis. Case. A 38-year-old pregnant woman, G2P1L1 with history of one previous Caesarean section, presented with vaginal bleeding at 13 weeks’ gestation. Ultrasound examination was highly suspicious of placenta previa with accreta. During an earlier 12-week scan for nuchal translucency measurement, the placenta was suboptimally visualized. She was counselled regarding potential maternal and fetal complications as well as management options. At 33 weeks’ gestation Caesarean hysterectomy was performed due to vaginal bleeding. Conclusion. Early ultrasound screening in high-risk patients may be advantageous in order to identify placenta accreta and conduct appropriate patient counseling regarding risks and management options.

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

Directory of Open Access Journals (Sweden)

Tuba Günel

2014-12-01

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

First trimester bleeding and maternal cardiovascular morbidity

DEFF Research Database (Denmark)

Lykke, Jacob A; Langhoff-Roos, Jens

2012-01-01

First trimester bleeding without miscarriage is a risk factor for complications later in the pregnancy, such as preterm delivery. Also, first trimester miscarriage has been linked to subsequent maternal ischemic heart disease. We investigated the link between maternal cardiovascular disease prior...... to and subsequent to first trimester bleeding without miscarriage....

Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements.

Science.gov (United States)

Palomaki, Glenn E; Lee, Jo Ellen S; Canick, Jacob A; McDowell, Geraldine A; Donnenfeld, Alan E

2009-09-01

This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Act, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. These guidelines address first-trimester screening that includes ultrasound measurement and interpretation of nuchal translucency thickness and protocols that combine markers from both the first and second trimesters. Laboratories can use their professional judgment to make modification or additions.

Prenatal diagnosis of parapagus diprosopus dibrachius dipus twins with spina bifida in the first trimester using two- and three-dimensional ultrasound

OpenAIRE

Pei-Yin Yang; Ching-Hua Wu; Guang-Perng Yeh; Charles Tsung-Che Hsieh

2015-01-01

Objective: Here, we report a case of parapagus diprosopus twins with spina bifida diagnosed in the first trimester of pregnancy using two-dimensional (2D) and three-dimensional (3D) ultrasound. Case report: A 28-year-old Taiwanese woman, gravid 1, para 0, visited our hospital due to an abnormal fetal head shape discovered by 2D ultrasound at 11-weeks gestation. Parapagus diprosopus twins with spina bifida were diagnosed after ultrasound examination. The characteristics of parapagus diproso...

DIAGNOSIS OF GASTROSCHISIS IN THE FIRST TRIMESTER OF PREGNANCY - CASE REPORT

Directory of Open Access Journals (Sweden)

Stefan Lončar

2011-12-01

Full Text Available Gastroschisis (gastroshisis represents evisceration of the abdominal organs, most commonly small bowels, stomach and gonads through the front abdominal wall defect, almost always to the right of the umbilicus (90% from which it is separated by thin skin bridge. The incidence of this anomaly is 0.5 to 4 per 10.000 liveborn babies. We presented a patient, aged 27 years, who had gastroschisis of the fetus in the 13th week of gestation diagnosed by ultrasound. Ultrasound examination is the method of choice for prenatal detection of fetal anomalies. By differential diagnosis, the possible existence of omphalocele should be eliminated using (2D, 3D and power Doppler technology which significantly makes the assessment of gynecologist easier during establishment of the final diagnosis.

The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele.

Science.gov (United States)

Lakshmy, Ravi Selvaraj; Agnees, Joy; Rose, Nity

2017-03-01

The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines. The course of the SMA points to the location of the bowel. We report a series of 7 cases detected in first trimester with an abnormal course of the SMA, 3 of which had CDH and 4 of which had omphalocele. In CDH, the intestines herniate into the thoracic cavity; hence, the SMA tends to have an upward course toward the thorax. In 4 cases of omphalocele, the SMA follows the exteriorized bowel into the base of the umbilical cord. Second-trimester sonography for detection of congenital malformations is a standardized protocol, but a careful anatomic survey at the 11- to 14-week scan is often rewarding. When there is a suspicion of an intrathoracic mass or a mediastinal shift, the upturned course of SMA serves as a valuable sign in confirmation of CDH. Chromosomal abnormalities are often reported in cases of omphalocele containing small bowel only, and the upward course of the SMA toward the base of the cord helps in its early prenatal diagnosis, which facilitates early genetic assessment in these fetuses. © 2017 by the American Institute of Ultrasound in Medicine.

Assessment of global DNA methylation in the first trimester fetal tissues exposed to maternal cigarette smoking

DEFF Research Database (Denmark)

Fa, Svetlana; Larsen, Trine Vilsbøll; Bilde, Katrine

2016-01-01

to exposures with an epigenetic impact. We have assessed the influence of maternal cigarette smoking during the first trimester for fetal global DNA methylation. METHODS AND RESULTS: We analyzed the human fetal intestines and livers as well as the placentas from the first trimester pregnancies. Global DNA......AIMS: Maternal cigarette smoking during pregnancy increases the risk of negative health consequences for the exposed child. Epigenetic mechanisms constitute a likely link between the prenatal exposure to maternal cigarette smoking and the increased risk in later life for diverse pathologies....... Maternal smoking induces gene-specific DNA methylation alterations as well as global DNA hypermethylation in the term placentas and hypomethylation in the cord blood. Early pregnancy represents a developmental time where the fetal epigenome is remodeled and accordingly can be expected to be highly prone...

Opportunities and challenges in prenatal diagnosis : towards personalized fetal genetics

NARCIS (Netherlands)

Lichtenbelt, K.D.

2013-01-01

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

Prenatal Diagnosis of Osteogenesis Imperfecta

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Özgür Özyüncü

2010-04-01

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

Is a third-trimester antibody screen in Rh+ women necessary?

Science.gov (United States)

Rothenberg, J M; Weirermiller, B; Dirig, K; Hurd, W W; Schilder, J; Golichowski, A

1999-09-01

To determine the need for routine third-trimester antibody screening in Rh+ women. An analytic case-control study. We identified Rh+ pregnant women who had received prenatal care and retrospectively analyzed their laboratory data. Patients were grouped into those with a positive third-trimester antibody screen (cases) and those with a negative third-trimester screen (controls). Because entry into a group was decided by the investigators, it could not be randomized. We reviewed the maternal medical records for antibody identification and final pregnancy outcome. We also reviewed the neonatal medical records for evidence of direct Coombs-positive cord blood, anemia, need for transfusion or phototherapy, other medical complications, and death. Using a computerized laboratory database from 2 teaching hospitals, we identified 10,581 obstetric patients who underwent routine first- and third-trimester antibody screening between 1988 and 1997. Of these, 1233 patients were Rh- and 9348 were Rh+. Among the Rh+ patients, 178 (1.9%) had 1 or more atypical antibodies at the first-trimester screen, and 53 (0.6%) had a positive third-trimester antibody screen despite a negative first-trimester screen. Although 6 of these 53 patients (0.06% of the study population) had clinically relevant antibodies for hemolytic disease of the new-born, no significant neonatal sequelae occurred among these 6 patients. Based on the patient and hospital records studied, a repeat third-trimester antibody screen for Rh+ patients is clinically and economically unjustified. Eliminating this laboratory test from clinical practice will not adversely affect pregnancy outcomes and will decrease the costs of prenatal care.

Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

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Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

2009-09-01

A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

Including ethical considerations in models for first-trimester screening for pre-eclampsia

DEFF Research Database (Denmark)

Jørgensen, Jennifer Maureen; Hedley, Paula L.; Gjerris, Mickey

2014-01-01

Recent efforts to develop reliable and efficient early pregnancy screening programmes for pre-eclampsia have focused on com-bining clinical, biochemical and biophysical markers. The same model has been used for first-trimester screening for fetal aneuploidies i.e. prenatal diagnosis (PD), which...... is routinely offered to all pregnant women in many developed countries. Some studies suggest combining PD and pre-eclampsia screening, so women can be offered testing for a number of conditions at the same clinical visit. A combination of these tests may be practical in terms of saving time and resources......; however, the combination raises ethical issues. First-trimester PD and pre-eclampsia screening entail qualitative differences which alter the requirements for disclosure, non-directedness and consent with regard to the informed consent process. This article explores the differences related to the ethical...

Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.

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Takyi, Afua; Santolaya-Forgas, Joaquin

2017-06-01

Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.

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

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

2014-01-01

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

Frequency Of Illicit Drug Consumption In The First Trimester Of Pregnancy (Tehran - 2001

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Ramezanzadeh f

2003-11-01

Full Text Available Illicit drug abuse is a major area of interest for clinicians, as well as for public health and social authorities, but one of the major concerns is the illicit drug abuse during the periconceptional period and throughout pregnancy, because of its potential effects on the embryo and fetus. In this study we investigated the prevalence of illicit drug abuse in the first trimester of pregnancy in women who referred to Iran, Tehran and Shahid Beheshti universities of medical sciences, for prenatal care."nMaterials and Methods: In this descriptive cross sectional study, a non-randomized sample of 2000 pregnant women that were in their second and third trimester of their pregnancy, were interviewed about drug abuse in their first trimester. Collected data were analyzed by SPSS software."nResults: The prevalence of illicit drug abuse in the first trimester was 2.5% which the majority of these drugs were in group B. The prevalence of drug abuse was 0.9% and alcohol usage and alcohol abuse was 0.2%, cigarette smoking was the most common drug abusing phenomena. Variables such as husband education, infertility and satisfaction with pregnancy have significant relation with drug abuse."nConclusion: The results of this study support the need for continued education and this education must end in by itself to make dramatic changes in behavior. So results of this study showed that, improving education and knowledge of mothers and consultation with them in regard to risks and complications of drug abuse during pregnancy, would make dramatic changes in their behavior."n"n"n"n"n"n"n"n 

A nationwide study on the risk of autism after prenatal stress exposure to maternal bereavement

DEFF Research Database (Denmark)

Li, Jiong; Vestergaard, Mogens; Obel, Carsten

2009-01-01

OBJECTIVE: Prenatal stress has been linked to several adverse neurobehavioral outcomes, which may share a common pathophysiology with autism. We aimed to examine whether prenatal stress exposure after maternal bereavement is associated with an increased risk of autism later in life. METHODS: We...... compared with those in the unexposed group. RESULTS: Maternal bereavement during the prenatal period was not associated with an increased risk of autism in the offspring. The hazard ratios did not differ by the nature of the exposure (maternal relationship to the deceased or cause of death). The hazard...... ratios were comparable between the 5 prenatal exposure periods under study (7-12 months before pregnancy, 0-6 months before pregnancy, first trimester, second trimester, and third trimester). CONCLUSIONS: This is the first population-based cohort study to examine the effect of prenatal stress on autism...

Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

International Nuclear Information System (INIS)

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

2003-01-01

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

Prenatal diagnosis of fetal lung maturity by magnetic resonance imaging

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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)

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

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

2007-09-01

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

Prenatal screening for fetal aneuploidy in singleton pregnancies.

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

2011-07-01

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

Prenatal Diagnosis Of Tay-Sachs Disease

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Özgür Özyüncü

2010-04-01

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

Consumerism in prenatal diagnosis: a challenge for ethical guidelines

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Henn, W.

2000-01-01

The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation (WHO), as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. Key Words: Genetics • prenatal diagnosis • ethics • consumerism PMID:11129845

Pai syndrome: challenging prenatal diagnosis and management

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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.)

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES

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Luisella Saba

2009-06-01

Full Text Available

Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β- globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this  disease and of related disorders.  Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread.

As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades  earlier and less invasive approaches for prenatal diagnosis were developed . A overview of the most promising procedure will be done.

Moreover, in order to reduce the choice of   interrupting  the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD has been setting up for several diseases including thalassemias.

Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

Science.gov (United States)

Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

2015-01-01

Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

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

Science.gov (United States)

Gürel, Sebahat Atar

2015-04-01

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

Prenatal Diagnosis of Single-Gene Defects%单基因病的产前诊断研究进展

Institute of Scientific and Technical Information of China (English)

严恺; 金帆

2013-01-01

单基因病是导致新生儿出生缺陷的主要原因之一，大多数单基因病患者预后不佳。对于有单基因病患儿出生史的家系，在先证者致病基因及突变类型明确的基础上，可通过产前诊断防止患儿的出生。目前，单基因病的产前诊断可分为植入前遗传学诊断（PGD）和妊娠期产前诊断。传统的产前诊断通过有创手术获取胎儿源性标本，准确性高，但具有一定程度的流产风险。PGD和无创产前诊断（NIPD）作为新的产前诊断方式，在一定程度上可作为传统方式的补充。综述单基因病产前诊断技术的研究进展及遗传咨询的重要意义，为临床实践产前诊断的方案制定提供一定的思路。%Single-gene defects, which has the unfavorable prognosis, is the main cause of the newborn's defect. Couples can prevent birth of child carrying the same genetic disorder with the proband. Currently, the prenatal diagnosis contains preimplantation genetic diagnosis and trimester prenatal diagnosis. Traditional invasive prenatal diagnosis acquire specimens from fetal relying on surgery. It is accurate, but with a certain risk of miscarriage. The new method of prenatal diagnosis (such as preimplantation genetic diagnosis and non-invasive prenatal diagnosis) and the traditional way are complementary to one another. In this review, we discuss the progress of prenatal diagnosis of Single-gene defects and the significance of genetic counseling in order to provide some ideas in clinical practice.

Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers.

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Borelli, Melissa; Baer, Rebecca J; Chambers, Christina D; Smith, Tyler C; Jelliffe-Pawlowski, Laura L

2017-02-01

We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

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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.

Prenatal diagnosis of congenital paraesophageal hiatal hernia

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Min Jeng Cho

2018-05-01

Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis

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Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-01-01

Abstract Rationale: Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. Patient concerns: We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. Diagnoses: To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. Interventions: The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Outcomes: Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. Lessons: The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. PMID:29390297

Computed tomography assessment of peripubertal craniofacial morphology in a sheep model of binge alcohol drinking in the first trimester.

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Birch, Sharla M; Lenox, Mark W; Kornegay, Joe N; Shen, Li; Ai, Huisi; Ren, Xiaowei; Goodlett, Charles R; Cudd, Tim A; Washburn, Shannon E

2015-11-01

Identification of facial dysmorphology is essential for the diagnosis of fetal alcohol syndrome (FAS); however, most children with fetal alcohol spectrum disorders (FASD) do not meet the dysmorphology criterion. Additional objective indicators are needed to help identify the broader spectrum of children affected by prenatal alcohol exposure. Computed tomography (CT) was used in a sheep model of prenatal binge alcohol exposure to test the hypothesis that quantitative measures of craniofacial bone volumes and linear distances could identify alcohol-exposed lambs. Pregnant sheep were randomly assigned to four groups: heavy binge alcohol, 2.5 g/kg/day (HBA); binge alcohol, 1.75 g/kg/day (BA); saline control (SC); and normal control (NC). Intravenous alcohol (BA; HBA) or saline (SC) infusions were given three consecutive days per week from gestation day 4-41, and a CT scan was performed on postnatal day 182. The volumes of eight skull bones, cranial circumference, and 19 linear measures of the face and skull were compared among treatment groups. Lambs from both alcohol groups showed significant reduction in seven of the eight skull bones and total skull bone volume, as well as cranial circumference. Alcohol exposure also decreased four of the 19 craniofacial measures. Discriminant analysis showed that alcohol-exposed and control lambs could be classified with high accuracy based on total skull bone volume, frontal, parietal, or mandibular bone volumes, cranial circumference, or interorbital distance. Total skull volume was significantly more sensitive than cranial circumference in identifying the alcohol-exposed lambs when alcohol-exposed lambs were classified using the typical FAS diagnostic cutoff of ≤10th percentile. This first demonstration of the usefulness of CT-derived craniofacial measures in a sheep model of FASD following binge-like alcohol exposure during the first trimester suggests that volumetric measurement of cranial bones may be a novel biomarker

Prenatal diagnosis of horseshoe lung and esophageal atresia

International Nuclear Information System (INIS)

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

2006-01-01

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

Prenatal diagnosis of horseshoe lung and esophageal atresia

Energy Technology Data Exchange (ETDEWEB)

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

2006-09-15

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

Prenatal diagnosis of lissencephaly: A case report

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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.

Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation.

Science.gov (United States)

Clemente, Claudia Maria; Farina, Marco; Cianci, Antonio; Iraci Sareri, Marco

2010-01-01

The case we describe reports the early sonographic findings of sirenomelia with oligodactylia at 9 weeks of gestation by transvaginal two-dimensional color Doppler ultrasonography imaging and its confirmation by hysteroscopic embryoscopy at 12 weeks to further characterize the findings. The embryo showed increased nuchal translucency and fused lower limbs with a large intra-abdominal vessel and two-vessel umbilical cords. The pregnancy was terminated by medical abortion induction after the patient viewed the embryoscopic images. Diagnosis is commonly made later in the second trimester of pregnancy, oligohydramnios being a warning signal, which usually makes the diagnosis difficult. Survival, only possible in the absence of renal agenesis, is extremely rare. In view of the extremely poor prognosis, early diagnosis allows for earlier counseling and less traumatic therapeutic termination of pregnancy. Copyright 2010 S. Karger AG, Basel.

ORIGINAL ARTICLE Prenatal diagnosis of aneuploidy among a ...

African Journals Online (AJOL)

salah

terphase cells. Patients and Methods: Prenatal diagnosis was performed on 40 high risk ... Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies ..... of medical genetics. 9th ed.: Churchill. Livingstone; 1995. p. 23-45. Edwards and Beard: FISH studies of. 2. pre-implantation embryos and PGD.

Psychological impact of prenatal diagnosis and post procedure ...

African Journals Online (AJOL)

Prenatal diagnosis is associated with psychological challenges, which may affect the response of women before, during or after the procedure, as well as their decision on the future of an affected pregnancy. This prospective study was to evaluate the psychological impact of prenatal diagnosis, factors that may be ...

Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

International Nuclear Information System (INIS)

Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

1990-01-01

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

Trends in Early Prenatal Care Among Women with Pre-Existing Diabetes: Have Income Disparities Changed?

Science.gov (United States)

Breathett, Khadijah; Filley, Jessica; Pandey, Madhaba; Rai, Nayanjot; Peterson, Pamela N

2018-01-01

Women with pre-existing diabetes are at high maternal risk for comorbidities and death, particularly when early prenatal care is not received. Low income is a known barrier to early prenatal care. It is unknown whether recent policies to expand access to prenatal care have reduced income disparities. We hypothesized that income disparities would be minimized and that the odds of receipt of first trimester prenatal care among women with pre-existing diabetes would become similar across income strata over time. Using the Colorado birth certificate registry from 2007 to 2014, receipt of prenatal care was assessed retrospectively in 2,497 women with pre-existing diabetes. Logistic regression was used to examine the association between high (>$50,000), medium ($25,000-50,000), and low (prenatal care by birth year, adjusted for demographics. High, medium, and low income represented 29.5%, 19.0%, and 51.5% of the cohort, respectively. Women with high income were more likely to receive first trimester care than women with low income from 2007 [adjusted odds ratio, 95% confidence interval: 2.16 (1.18, 3.96)] through 2013 [1.66 (1.01, 2.73)], but significant differences were no longer observed in 2014 [1.59 (0.89, 2.84)]. The likelihood of receiving first trimester prenatal care was not significantly different between medium- and low-income strata from 2007 [1.07 (0.66, 1.74)] through 2014 [0.77 (0.48, 1.23)]. From 2007 to 2013, women in Colorado with diabetes were more likely to receive early prenatal care if they were in the highest income stratum than in the lowest stratum. In 2014, receipt of first trimester care became equitable across all income strata. Future work should examine national patterns of income with receipt of prenatal care and outcomes among women with pre-existing diabetes.

First-trimester vaginal bleeding and complications later in pregnancy

DEFF Research Database (Denmark)

Lykke, Jacob Alexander; Dideriksen, Katrine Lehrmann; Lidegaard, Øjvind

2010-01-01

To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy.......To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy....

Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester

DEFF Research Database (Denmark)

Engell, Anna Elise; Carlsson, Elin Rebecka; Jørgensen, Finn Stener

2017-01-01

OBJECTIVES: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein A (PAPP-A), used in screening for trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) during the first trimester, can be measured on different laboratory instruments e.......g. Kryptor (Brahms) and Cobas (Roche). We compared the performance of these two analytical instruments when used for first trimester combined testing. DESIGN AND METHODS: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP...

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. © 2014 Wiley Periodicals, Inc.

Prenatal sonographic diagnosis of diastrophic dwarfism.

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

2002-02-01

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

Applications of Doppler in the first trimester

International Nuclear Information System (INIS)

Taylor, K.J.W.; Ramirez, B.; Grannum, P.

1986-01-01

Fifty patients have been studied by duplex Doppler US imaging in the first trimester. In normal gestations, luteal flow, characterized by a low pulsatility index (PI), can be seen in at least one ovary. Failure to detect luteal flow indicates a nonviable pregnancy. Six ectopic pregnancies demonstrated luteal flow and extrauterine heartbeat, detected by Doppler US. High PI values in the uterine artery are seen in the first trimester. Low PI values in the uterine arteries were found in patients with trophoblastic disease

Review of chorionic Villus sampling in prenatal diagnosis | Oloyede ...

African Journals Online (AJOL)

Invasive prenatal diagnosis continues to be gold standard in pregnancies at increased risk of congenital abnormalities with chorionic villus sampling being one of the principal methods of prenatal diagnosis. Although not widely available in most developing countries, chorionic villus sampling is the procedure of choice for ...

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

Science.gov (United States)

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

2015-04-01

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

First trimester growth restriction and uterine artery blood flow in the second trimester as predictors of adverse pregnancy outcome

DEFF Research Database (Denmark)

Pedersen, N G; Sperling, L; Wøjdemann, K R

2013-01-01

To investigate if fetuses with first trimester growth restriction have poorer perfusion of the placenta compared to a control group, and to investigate whether first trimester growth restriction in combination with poor flow in the uterine arteries in the second trimester can be used to predict...

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

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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.

First trimester prediction of maternal glycemic status.

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Gabbay-Benziv, Rinat; Doyle, Lauren E; Blitzer, Miriam; Baschat, Ahmet A

2015-05-01

To predict gestational diabetes mellitus (GDM) or normoglycemic status using first trimester maternal characteristics. We used data from a prospective cohort study. First trimester maternal characteristics were compared between women with and without GDM. Association of these variables with sugar values at glucose challenge test (GCT) and subsequent GDM was tested to identify key parameters. A predictive algorithm for GDM was developed and receiver operating characteristics (ROC) statistics was used to derive the optimal risk score. We defined normoglycemic state, when GCT and all four sugar values at oral glucose tolerance test, whenever obtained, were normal. Using same statistical approach, we developed an algorithm to predict the normoglycemic state. Maternal age, race, prior GDM, first trimester BMI, and systolic blood pressure (SBP) were all significantly associated with GDM. Age, BMI, and SBP were also associated with GCT values. The logistic regression analysis constructed equation and the calculated risk score yielded sensitivity, specificity, positive predictive value, and negative predictive value of 85%, 62%, 13.8%, and 98.3% for a cut-off value of 0.042, respectively (ROC-AUC - area under the curve 0.819, CI - confidence interval 0.769-0.868). The model constructed for normoglycemia prediction demonstrated lower performance (ROC-AUC 0.707, CI 0.668-0.746). GDM prediction can be achieved during the first trimester encounter by integration of maternal characteristics and basic measurements while normoglycemic status prediction is less effective.

Noninvasive prenatal diagnosis for single gene disorders.

Science.gov (United States)

Allen, Stephanie; Young, Elizabeth; Bowns, Benjamin

2017-04-01

Noninvasive prenatal diagnosis for single gene disorders is coming to fruition in its clinical utility. The presence of cell-free DNA in maternal plasma has been recognized for many years, and a number of applications have developed from this. Noninvasive prenatal diagnosis for single gene disorders has lagged behind due to complexities of technology development, lack of investment and the need for validation samples for rare disorders. Publications are emerging demonstrating a variety of technical approaches and feasibility of clinical application. Techniques for analysis of cell-free DNA including digital PCR, next-generation sequencing and relative haplotype dosage have been used most often for assay development. Analysis of circulating fetal cells in the maternal blood is still being investigated as a viable alternative and more recently transcervical trophoblast cells. Studies exploring ethical and social issues are generally positive but raise concerns around the routinization of prenatal testing. Further work is necessary to make testing available to all patients with a pregnancy at risk of a single gene disorder, and it remains to be seen if the development of more powerful technologies such as isolation and analysis of single cells will shift the emphasis of noninvasive prenatal diagnosis. As testing becomes possible for a wider range of conditions, more ethical questions will become relevant.

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

Directory of Open Access Journals (Sweden)

Namrata Kashyap

2015-01-01

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

First Trimester Listeria monocytogenes Septicemia

NARCIS (Netherlands)

Goddijn, M.; Schipper, H. G.; Spanjaard, L.; Wolf, H.

1997-01-01

Background: Little is known about fetal outcome after Listeria monocytogenes septicemia in the first trimester of pregnancy.Case: A primigravida with L. monocytogenes septicemia at 9 weeks gestation was treated with amoxicillin. At 40 weeks gestation a healthy female infant was born.Conclusion: This

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

NARCIS (Netherlands)

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

2017-01-01

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

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2002-09-15

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung Kyu; Cho, Jeong Yeon; Lee, Young Ho; Kim, Ei Jeong; Chun, Yi Kyeong

2002-01-01

Focal musculoskeletal anomalies are various and may be an isolated finding or may be found in conjunction with numerous associations, including genetic syndromes, Karyotype abnormals, central nervous system anomalies and other general musculoskeletal disorders. Early prenatal diagnosis of these focal musculoskeletal anomalies nor only affects prenatal care and postnatal outcome but also helps in approaching other numerous associated anomalies.

First trimester diagnosis of parapagus diprosopus dibrachius dipus twins with cranirachischisis totalis by three-dimensional ultrasound.

Science.gov (United States)

Ülker, Kahraman; Akyer, Şahika P; Temur, İsmail; Tan, Temel; Karaca, Mehmet; Adıgüzel, Esat; Gül, Abdülaziz

2012-02-01

Parapagus (laterally fused), diprosopus (two faces), dibrachius (two upper extremities), dipus (two lower extremities) conjoined twinning is extremely rare. The coexistence of anencephaly with a contiguous spinal defect (craniorachischisis totalis) makes the present case one of the rarest of the published cases. In our case, it was difficult to make the final diagnosis by two-dimensional abdominal and vaginal ultrasound. Three-dimensional ultrasound was helpful for final diagnosis and post-abortal examination confirmed the prenatal ultrasound diagnosis. The heart, diaphragm, liver and perineum were all united. Fine dissection of the heart showed four vessels arising from the ventricles and a membranous type ventricular septal defect. © 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.

Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father.

Science.gov (United States)

Chen, Chih-Ping; Su, Yi-Ning; Chang, Tung-Yao; Chern, Schu-Rern; Chen, Chen-Yu; Su, Jun-Wei; Wang, Wayseen

2012-06-01

To present second-trimester ultrasound and molecular diagnosis for osteogenesis imperfecta (OI) type I in a female fetus and incidental identification of a dominant COL1A1 deletion mutation in her paucisymptomatic father. A 30-year-old, primigravid woman was referred for genetic counseling in the second trimester because of bowing of the fetal lower limbs. She and her husband were non-consanguineous, and there was no family history of skeletal dysplasias. Prenatal ultrasound at 22 weeks of gestation revealed short and curved right femur and left tibia, and a short left fibula. The lengths of other long bones were normal. The husband was 158 cm tall, had blue sclerae, a history of habitual subluxation and dislocation of bilateral elbows and left knee, and an episode of left ulna fracture, and was not aware of his being affected with OI type I. The woman underwent amniocentesis. Cytogenetic analysis revealed a karyotype of 46,XX. Molecular analysis of the amniocytes revealed a heterozygous deletion mutation of c.1064_1068delCTGGT in exon 17 of the COL1A1 gene. By genetic testing the husband was found to carry the same mutation. Despite counseling of favorable outcome for OI type I with the parents, the woman elected to terminate the pregnancy. Postnatal skeletal X-ray findings were consistent with OI type I. Prenatal ultrasound diagnosis of mild forms of OI should include molecular analysis of type I collagen genes in both fetus and parents. Molecular genetic analysis of the family may incidentally identify a collagen gene mutation in the paucisymptomatic affected parent. Copyright © 2012. Published by Elsevier B.V.

Prevalence of xenobiotic substances in first-trimester blood samples from Danish pregnant women: a cross-sectional study.

Science.gov (United States)

Aagaard, Sissel Kramer; Larsen, Agnete; Andreasen, Mette Findal; Lesnikova, Iana; Telving, Rasmus; Vestergaard, Anna Louise; Tørring, Niels; Uldbjerg, Niels; Bor, Pinar

2018-03-03

The aim of this study was to investigate the prevalence of xenobiotic substances, such as caffeine, nicotine and illicit drugs (eg, cannabis and cocaine), in blood samples from first-trimester Danish pregnant women unaware of the screening. A cross - sectional study examined 436 anonymised residual blood samples obtained during 2014 as part of the nationwide prenatal first-trimester screening programme. The samples were analysed by ultra performance liquid chromatography with high-resolution time-of-flight mass spectrometry. An antenatal clinic in a Danish city with 62 000 inhabitants, where >95% of pregnant women joined the screening programme. The prevalence and patterns of caffeine, nicotine, medication and illicit drug intake during the first trimester of pregnancy. The prevalence of prescription and over-the-counter drug detection was 17.9%, including acetaminophen (8.9%) and antidepressants (3.0%), of which citalopram (0.9%) was the most frequent. The prevalence of illegal drugs, indicators of smoking (nicotine/cotinine) and caffeine was 0.9%, 9.9%, and 76.4%, respectively. Only 17.4% of women had no substance identified in their sample. This study emphasises the need for further translational studies investigating lifestyle habits during pregnancy, as well as the underlying molecular mechanisms through which xenobiotic substances may affect placental function and fetal development. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

Science.gov (United States)

Talebi, Farah; Ghanbari Mardasi, Farideh; Mohammadi Asl, Javad; Lashgari, Ali; Farhadi, Freidoon

2018-07-01

Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis. Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out prenatal diagnosis by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Copyright© by Royan Institute. All rights reserved.

Oregon's Coordinated Care Organizations and Their Effect on Prenatal Care Utilization Among Medicaid Enrollees.

Science.gov (United States)

Oakley, Lisa P; Harvey, S Marie; Yoon, Jangho; Luck, Jeff

2017-09-01

Introduction Previous studies indicate that inadequate prenatal care is more common among women covered by Medicaid compared with private insurance. Increasing the proportion of pregnant women who receive early and adequate prenatal care is a Healthy People 2020 goal. We examined the impact of the implementation of Oregon's accountable care organizations, Coordinated Care Organizations (CCOs), for Medicaid enrollees, on prenatal care utilization among Oregon women of reproductive age enrolled in Medicaid. Methods Using Medicaid eligibility data linked to unique birth records for 2011-2013, we used a pre-posttest treatment-control design that compared prenatal care utilization for women on Medicaid before and after CCO implementation to women never enrolled in Medicaid. Additional stratified analyses were conducted to explore differences in the effect of CCO implementation based on rurality, race, and ethnicity. Results After CCO implementation, mothers on Medicaid had a 13% increase in the odds of receiving first trimester care (OR 1.13, CI 1.04, 1.23). Non-Hispanic (OR 1.20, CI 1.09, 1.32), White (OR 1.20, CI 1.08, 1.33) and Asian (OR 2.03, CI 1.26, 3.27) women on Medicaid were more likely to receive initial prenatal care in the first trimester after CCO implementation and only Medicaid women in urban areas were more likely (OR 1.14, CI 1.05, 1.25) to initiate prenatal care in the first trimester. Conclusion Following Oregon's implementation of an innovative Medicaid coordinated care model, we found that women on Medicaid experienced a significant increase in receiving timely prenatal care.

A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

Science.gov (United States)

Lee, Hwa Jeen; Park, Seungman; Kang, Hyoung Jin; Jun, Jong Kwan; Lee, Jung Ae; Lee, Dong Soon; Park, Sung Sup; Seong, Moon-Woo

2012-09-01

Fanconi anemia (FA) is a rare genetic disorder affecting multiple body systems. Genetic testing, including prenatal testing, is a prerequisite for the diagnosis of many clinical conditions. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes. This study describes successful genetic testing for molecular diagnosis, and subsequent prenatal diagnosis, of FA in a patient and his family in Korea. We analyzed all exons and flanking regions of the FANCA, FANCC, and FANCG genes for mutation identification and subsequent prenatal diagnosis. Multiplex ligation-dependent probe amplification analysis was performed to detect large deletions or duplications in the FANCA gene. Molecular analysis revealed two mutations in the FANCA gene: a frameshift mutation c.2546delC and a novel splice-site mutation c.3627-1G>A. The FANCA mutations were separately inherited from each parent, c.2546delC was derived from the father, whereas c.3627-1G>A originated from the mother. The amniotic fluid cells were c.3627-1G>A heterozygotes, suggesting that the fetus was unaffected. This is the first report of genetic testing that was successfully applied to molecular diagnosis of a patient and subsequent prenatal diagnosis of FA in a family in Korea.

Variation of Ultrasound Findings in the First Trimester Examination of Recurrent Cases With Trisomy 21

Science.gov (United States)

Daniilidis, Aggelos; Balaouras, Dimitrios; Chitzios, Dimitrios; Balaouras, Georgios; Capilna, Mihai; Asimakopoulos, Efstratios

2015-01-01

Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy. PMID:25883716

[Alternative biological materials to detect prenatal exposure to drugs of abuse in the third trimester of pregnancy].

Science.gov (United States)

García-Serra, J; Ramis, J; Simó, S; Joya, X; Pichini, S; Vall, O; García-Algar, O

2012-11-01

Detection of prenatal drug abuse exposure is essential to ensure an appropriate monitoring of affected children. A maternal questionnaire is not an efficient screening tool. The usefulness of maternal hair and meconium as biological materials to assess this exposure has been described in last few years. The aim of this study was to compare both these alternative biological materials for prenatal drug exposure detection in the third trimester of pregnancy, in order to assess its use as a screening tool. Between January and March 2010, samples of maternal hair and meconium from 107 mother-infant dyads were collected in Can Misses Hospital, Ibiza. The presence of opiates, cocaine, cannabis, and amphetamines, was determined in both materials, using standard chromatographic techniques. Maternal hair analysis showed a 15.9% positivity for drugs of abuse (17 cases): 11 cannabis, 7 cocaine, 1 cannabis and ecstasy, and 1 cannabis and cocaine. Only one mother reported cannabis consumption and another one, cocaine. Of the 7 cocaine positive cases in hair, 6 were confirmed in meconium analysis, while of 11 cannabis positive cases, only 3 were confirmed in meconium. Two different consumer profiles were defined: cocaine consumers and cannabis consumers (with only 2 cases of multiple drug use). The highest level of cocaine ever published was detected (1.582ng/g) in one case. This study reveals a high prevalence of drug abuse in this cohort during pregnancy. Improved screening methods may optimize prevention and monitoring of exposed infants. Maternal hair seems to be more sensitive than meconium to detect prenatal exposure to cannabis during the third trimester, so it might become a good screening tool. Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

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.)

Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

International Nuclear Information System (INIS)

Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee; Dal Soglio, Dorothee; Messerli, Michael

2017-01-01

The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

Energy Technology Data Exchange (ETDEWEB)

Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee [University of Montreal, Department of Medical Imaging, Sainte-Justine Hospital, Quebec (Canada); Dal Soglio, Dorothee [University of Montreal, Department of Pathology, Sainte-Justine Hospital, Quebec (Canada); Messerli, Michael [University Hospital Zurich, University of Zurich, Department of Nuclear Medicine, Zurich (Switzerland)

2017-12-15

The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

Prenatal Diagnosis of Penoscrotal Hypospadia in Third Trimester by Two- and Three-Dimensional Ultrasonography: A Case Report

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Lívia Teresa Moreira Rios

2012-01-01

Full Text Available Hypospadia is an abnormal development of the corpus spongiosum, that involves cavernosa urethra, as a result of an inadequate fusion of the urethral folds. The incidence ranges from 0.2 to 4.1 per 1,000 live births. Among the markers of hypospadia, isolated ventral or lateral curvature of the penis associated with shortening are the most important markers and, in severe cases, can result in the classic “tulip sign.” The diagnosis of hypospadia is uncommon unless there is a routine of detailed analysis of fetal genitalia morphology. The prenatal diagnosis is of great importance for genetic counseling and allows better planning of postnatal treatment. The three-dimensional ultrasonography (3DUS in rendering mode enables better comprehension of the pathology by parents, facilitating postnatal planning. We report a case of penoscrotal hypospadia diagnosed at 33 weeks of gestation, suspected due to the absence of testicles in the scrotum and difficulty of penis visualization. We emphasize the findings of 3DUS and its importance in the pathology compression by parents.

Factors related to elevated vaginal pH in the first trimester of pregnancy.

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Zodzika, Jana; Rezeberga, Dace; Jermakova, Irina; Vasina, Olga; Vedmedovska, Natalija; Donders, Gilbert

2011-01-01

To assess different bacterial and epidemiological factors associations with increased vaginal pH in the pregnant women population during the first trimester. A cross-sectional, observational study. Three outpatient clinics in Riga. From July 2009 until January 2010, 139 unselected consecutive pregnant women at the first prenatal visit. Pregnant women were submitted to an interview, vaginal examination and vaginal specimen collection for pH measurement and native microscopy. Vaginal pH ≥4.5 was considered as elevated. Abnormal bacterial microflora was classified according to Donders. Elevated vaginal pH was significantly associated with bacterial vaginosis (p aerobic vaginitis (p aerobic vaginitis and bacterial vaginosis flora (p vaginal flora. Normal lactobacillary morphotypes were more often found in the pH ≤4.4 group (p vaginal pH is associated with different types of abnormal vaginal flora and the presence of sperm cells. © 2010 The Authors Acta Obstetricia et Gynecologica Scandinavica© 2010 Nordic Federation of Societies of Obstetrics and Gynecology.

[PAX3 gene mutation analysis for two Waardenburg syndrome type Ⅰ families and their prenatal diagnosis].

Science.gov (United States)

Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

2016-12-07

Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

Fetal first trimester growth is not associated with kidney outcomes in childhood.

Science.gov (United States)

Bakker, Hanneke; Gaillard, Romy; Hofman, Albert; Reiss, Irwin K; Steegers, Eric A P; Jaddoe, Vincent W V

2017-04-01

Impaired fetal growth is associated with increased risks of kidney diseases in later life. Because human development rates are highest during the first trimester, this trimester may be a particularly critical period for kidney outcomes. We have therefore examined the association of fetal first trimester growth with kidney outcomes in childhood. This study was embedded in a prospective population-based cohort study among 1176 pregnant women and their children. We used fetal first trimester crown-length as the growth measure among mothers with a regular menstrual cycle and a known first day of the last menstrual period. At the childhood age of 6 (median 5.7-6.8) years, we measured combined kidney volume, microalbuminuria and estimated glomerular filtration rate (eGFR) based on serum creatinine and cystatin C concentrations. No consistent associations of fetal first trimester crown-rump length with childhood combined kidney volume, eGFR and microalbuminuria were observed. Compared to children with a fetal first trimester crown-rump length in the highest quintile, those in the lowest quintile had a larger childhood combined kidney volume (difference 5.32 cm 3 , 95 % confidence interval 1.06 to 9.57), but no differences in kidney function. Our results do not support the hypothesis that fetal first trimester growth restriction affects kidney size and function in childhood. Further studies are needed to focus on critical periods in early life for kidney function and disease in later life.

New trend in non-invasive prenatal diagnosis.

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

2015-12-07

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

FUNCTIONALLY UNIVENTRICULAR HEARTS: IMPACT OF PRE-NATAL DIAGNOSIS

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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

The Relationship between Prenatal Care, Personal Alcohol Abuse and Alcohol Abuse in the Home Environment

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Grekin, Emily R.; Ondersma, Steven J.

2009-01-01

Aims: Nearly one-fourth of African-American women receive no prenatal care during the first trimester of pregnancy. The aim of the current study is to identify factors that underlie inadequate prenatal care among African-American women. Maternal alcohol abuse has been examined as one risk factor for inadequate prenatal care, but findings have been…

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Science.gov (United States)

Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

2014-08-01

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

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

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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.

Exercise in Pregnancy: First Trimester Risks

DEFF Research Database (Denmark)

Hegaard, Hanne K.; Ersbøll, Anne S; Damm, Peter

2016-01-01

in the first trimester and the risk of miscarriage. A systematic review based on the EMBASE and PUBMED databases was conducted and 5 studies assessing the association between early pregnancy exercise and miscarriage were identified. Diverging findings were reported making no clear conclusion possible. New...

First-trimester screening for chromosomal abnormalities: advantages of an instant results approach.

Science.gov (United States)

Norton, Mary E

2010-09-01

Protocols that include first trimester screening for fetal chromosome abnormalities have become standard of care throughout the United States. Earlier screening allows for first trimester diagnostic testing in cases found to be at increased risk. However, first trimester screening requires coordination of the nuchal translucency ultrasound screening (NT) and biochemical screening, during early, specific, narrow, but slightly different gestational age ranges. Instant results can often be provided at the time of the NT ultrasound if preceded by the programs that perform the biochemical analyses; this optimizes the benefits of the first trimester approach while improving efficiency and communication with the patient. This article discusses the benefits and logistics of such an approach. Copyright 2010 Elsevier Inc. All rights reserved.

First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.

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Neocleous, Andreas C; Nicolaides, Kypros H; Schizas, Christos N

2016-09-01

The objective of this study is to examine the potential value of using machine learning techniques such as artificial neural network (ANN) schemes for the noninvasive estimation, at 11-13 weeks of gestation, the risk for euploidy, trisomy 21 (T21), and other chromosomal aneuploidies (O.C.A.), from suitable sonographic, biochemical markers, and other relevant data. A database(1) (1)The dataset can become available for academic purposes by communicating directly with the authors.

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review.

Science.gov (United States)

Sreejith, V P; Arun, V; Devarajan, Anooj P; Gopinath, Arjun; Sunil, Madhuri

2018-01-01

Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities. The identification of the defect at an early stage in the pregnancy helps the parents to be well informed and counseled regarding the treatment possibilities and outcomes of cleft lip and palate (CLP) treatment. To analyze the psychological effects of prenatal diagnosis of CLP on the parents. PubMed, Cochrane, and Google Scholar searches were made with search strings "prenatal diagnosis cleft lip palate," "antenatal diagnosis," "anomaly scan," "psychological effect cleft lip palate," and "prenatal counseling cleft lip palate." Of the results obtained, studies which evaluated the psychological aspects of parents of cleft children were further included in the study. Electronic search yielded 500 articles after duplication removal. Forty studies concentrated on the results of the scan and their implications predominantly in the diagnosis and management of cleft and other related abnormalities. Eight studies discussed the effects of prenatal diagnosis and counseling on the parents. Prenatal diagnosis enables appropriate and timely counseling of the parents by the cleft team and helps instill a sense of preparedness for the family which highly improves the quality of treatment received by the child enabling a near-to-normal quality and standard of life.

Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population

Science.gov (United States)

Padula, Francesco; Cignini, Pietro; Giannarelli, Diana; Brizzi, Cristiana; Coco, Claudio; D’Emidio, Laura; Giorgio, Elsa; Giorlandino, Maurizio; Mangiafico, Lucia; Mastrandrea, Marialuisa; Milite, Vincenzo; Mobili, Luisa; Nanni, Cinzia; Raffio, Raffaella; Taramanni, Cinzia; Vigna, Roberto; Mesoraca, Alvaro; Bizzoco, Domenico; Gabrielli, Ivan; Di Giacomo, Gianluca; Barone, Maria Antonietta; Cima, Antonella; Giorlandino, Francesca Romana; Emili, Sabrina; Cupellaro, Marina; Giorlandino, Claudio

2014-01-01

Objectives to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. Methods a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free β-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11+0 and 13+6 weeks of gestation, between April 2007 and December 2008. Results of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2–100; false-positive rate (FPR) 4.7%, 95% CI 3.9–5.4; false-negative rate (FNR) 17.6%, 95% CI 0–35.8%]. Conclusion in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free β-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population. PMID:26266002

Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.

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Theofanakis, Charalampos; Theodora, Marianna; Sindos, Michail; Daskalakis, George

2017-12-01

Sirenomelia and anencephaly are well-defined congenital malformations that usually occur independently. We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation. To our knowledge, this is the 7th case in the literature and the first that is diagnosed so early in pregnancy. The final diagnosis is confirmed with radiological examination after the termination of pregnancy. Prenatal diagnosis of sirenomelia is difficult due to the presence of kidney agenesis and severe oligohydramnios. The combination of sirenomelia and craniorachischisis totalis is extremely rare and prenatal ultrasound scan are a challenge, even for experts in the field. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

[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.

Beyond easy answers: prenatal diagnosis and counseling during pregnancy.

Science.gov (United States)

Strauss, Ronald P

2002-03-01

The advancing sophistication and availability of prenatal diagnostic technologies, such as transvaginal ultrasound, chorionic villus sampling, amniocentesis, and alpha feto-protein testing, have increased the medical capacity to detect genetic and congenital conditions during pregnancy. This paper raises many social and ethical questions about how families, craniofacial teams, and society respond when a prenatal diagnosis is made and considers the ethical and social issues around counseling, managing information, and making decisions. Ethical and sociological analysis. Implications examined on the societal, health professional, and family level. Families and health professionals often manage ambiguity, uncertainty, and complex decision making in facing a prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or abort an affected fetus on the basis of their perceptions of the impairment and on their expectation of the burden involved for the family and the child. On a broader, societal level, pressures to conform and minimize human differences are apparent in biomedical interventions, the Human Genome Project, advertising and media images, and social pressures to normalize disabilities. How society deals with prenatal diagnosis will impact upon social values; moral, legal, and ethical perspectives; and on health policy. Prenatal diagnostic technologies raise complex ethical, family, policy, and legal issues that have broad implications for the lives of children born with special health care needs, including children with cleft lip and palate.

Comparison of manual vacuum aspiration and sharp curettage in the treatment of first trimester abortions

International Nuclear Information System (INIS)

Iftikhar, G.; Tanveer, S.; Gilani, T.A.; Gilani, S.T.A.

2014-01-01

To compare the safety and efficacy of manual vacuum aspiration and sharp curettage in the treatment of first trimester abortions. Study Design: Randomized controlled trial. Place and Duration of Study: Department of Gynecology, Social Security Hospital Shahdra Lahore in collaboration with Family Health Hospital Johar Town Lahore, from May 2007 to May 2012. Patients and Methods: Six hundred women admitted with the diagnosis of first trimester less than or equal to 12 weeks abortions were randomly assigned, 300 to manual vacuum aspiration (MVA) and 300 to traditional sharp curettage. Diagnosis of abortion was confirmed by last menstrual period, physical examination and ultrasonography. Results: In total of 600 patients, 300 randomly assigned to MVA and another 300 patients assigned to sharp curettage management were having mean age of 31.8 and 33 yrs respectively. Mean parity was in both groups, mean gestational age 8.9 and 8.2 weeks, mean duration of procedure was 6.4 and 5.8 minutes, duration of hospital stay was 4 and 40 hrs, missed abortion in 47% and 43% patients, incomplete abortion in 53% and 57% patients, cervical dilatation was needed in 1% against 53%, 10% against 8 % experienced mild pain in both groups, no patient of incomplete evacuation against 0.6%, uterine perforation in none against 0.3 %, excessive bleeding was experienced by 0.3% against 0.6% patients in both groups, and patient satisfaction rate was 99% against 99.4% in the two groups respectively. Conclusion: In the management of first trimester pregnancy loss, MVA offers a quick solution to the problem with reduced hospital stay and lower rate of complications. (author)

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

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Lindsay B. Henderson

2013-01-01

Full Text Available Holoprosencephaly (HPE is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7 have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7, molecularly characterized using array comparative genomic hybridization.

Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

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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.

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Science.gov (United States)

Li, Long; Ma, Na; Li, Xiu-Rong; Gong, Fei; DU, Juan

2016-08-01

To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis. The proband carried compound heterozygous mutations of c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene; c.88C>T(p.Arg30*) had been reported as a pathogenic mutation, and c.968+2T>A was a new mutation. Pedigree analysis showed that the two mutations were inherited from the mother and father, respectively. Prenatal diagnosis showed that the fetus did not inherit the mutations from parents and had no mutations at the two loci. The follow-up visit confirmed that the infant was in a healthy state, which proved the accuracy of genetic diagnosis and prenatal diagnosis. The compound heterozygous mutations c.88C>T(p.Arg30*) and c.968+2T>A in the CLCNKB gene are the cause of BS in the proband, and prenatal diagnosis can prevent the risk of recurrence of BS in this family.

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

Science.gov (United States)

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

2016-06-01

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

Difficulties with Prenatal Diagnosis of the Walker-Warburg Syndrome

International Nuclear Information System (INIS)

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

2005-01-01

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

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.

Subclinical hypothyroidism in the first trimester of pregnancy in North India

Directory of Open Access Journals (Sweden)

Jubbin Jagan Jacob

2013-01-01

Full Text Available Subclinical hypothyroidism based on population and trimester specific cut-offs is reported to complicate 1-2% of all pregnancies. Using the recent Endocrine Society guidelines of 2.5 mIU/L of Thyroid Stimulating Hormone as the upper level of normal in the first trimester the reported prevalence of subclinical hypothyroidism is much higher. Recent publications have also emphasized that there is considerable racial variation in the prevalence of thyroid disorders in pregnancy. Among published literature North Indian women appear to have the highest rates of subclinical hypothyroidism in the first trimester of pregnancy. More widespread use of universal screening and trimester specific ranges in pregnancy for thyroid hormonal assays will lead to a large number of North Indian women requiring treatment for thyroid disorders in pregnancy.

prenatal ultrasound diagnosis of discordant occipital encephalocele

African Journals Online (AJOL)

drclement

PRENATAL ULTRASOUND DIAGNOSIS OF DISCORDANT OCCIPITAL. ENCEPHALOCELE IN MULTIPLE PREGNANCY - A CASE REPORT. *O.U Ogbeide (MBBS, FMCR), *EJ IKUBOR (MBBS). *Department of Radiology University of Benin Teaching Hospital, Benin-City, Nigeria. Correspondence: Dr Ogbeide Osesogie ...

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.

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

Science.gov (United States)

Swift, Oscar; Vilar, Enric; Rahman, Belinda; Side, Lucy; Gale, Daniel P

2016-12-01

No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units. Thirty-eight patients had ESRF and 58 had CKD stages I-IV. Participants were given an information sheet on prenatal diagnosis and PGD and subsequently completed a questionnaire. The median age of participants was 51.5 years. Seventeen percent of ADPKD patients with CKD and 18% of ADPKD patients with ESRF would consider prenatal diagnosis and termination of pregnancy for ADPKD. Fifty percent with CKD would have opted for PGD (or might consider it in the future) were it available and funded by the UK National Health Service, compared to 63% in the ESRF group (p = 0.33). Sixty-nine percent in the CKD group and 68% in the ESRF group believed that PGD should be offered to other patients. There was a spectrum of attitudes among this cohort. A proportion of patients believe that PGD should be made available to prospective parents with this disease. The discrepancy between the low proportion (17% CKD, 18% ESRF) who would consider prenatal diagnosis and termination of pregnancy and the higher number who hypothetically express an intention or wish to access PGD (50% CKD and 63% ESRF) indicates far greater acceptability for diagnostic methods that occur before embryo implantation. It is not known how the development of methods to identify patients whose renal function is likely to decline rapidly and treatments altering the natural history of ADPKD will affect these attitudes.

Prenatal diagnosis of Werdnig-Hoffmann disease in China

Institute of Scientific and Technical Information of China (English)

无

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.

Awareness and use of prenatal diagnosis among Greek women: a national survey.

Science.gov (United States)

Mavrou, A; Metaxotou, C; Trichopoulos, D

1998-04-01

The prevention of genetic diseases through prenatal diagnosis depends to a large extent on the awareness and acceptance of available methods by the public. A national survey was conducted among Greek women in order to explore their attitudes towards and their use of prenatal diagnosis in relation to their lifestyle. The survey was originally addressed to 3000 Greek women 18-65 years of age. Using as a criterion having a child 5 years old or younger, 350 women were eligible for the study. It was noted that 52 per cent of the respondents were adequately informed, while 48 per cent had either superficial knowledge of the subject or no knowledge at all. Amniocentesis was the method that most women were familiar with. The majority said that they were informed by their doctors and the media, and 13 per cent of the participants had prenatal diagnosis during a previous pregnancy. Twenty-two per cent of those who were not tested were over 35 years of age at the time of pregnancy. There was a significant positive correlation between awareness and acceptance of prenatal diagnosis, on the one hand, and the social, educational and financial profile of the women, on the other. Women aware of prenatal diagnosis adhered more closely to a healthy lifestyle and lived a family-centred life.

Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester

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Anna Elise Engell

2017-12-01

Full Text Available Objectives: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ and pregnancy associated plasma protein A (PAPP-A, used in screening for trisomy 21 (T21, trisomy 18 (T18, and trisomy 13 (T13 during the first trimester, can be measured on different laboratory instruments e.g. Kryptor (Brahms and Cobas (Roche. We compared the performance of these two analytical instruments when used for first trimester combined testing. Design and methods: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP-A on Kryptor, and re-analyzed on Cobas. In addition, serum samples from 70 pregnant women carrying a fetus affected by T21, T18 or T13, were re-assayed on Cobas. Results: For the screening population, the hCGβ and PAPP-A results in multiples of the median (MoM from Kryptor and Cobas were significantly lower on Cobas when compared to Kryptor. The number of pregnant women with a risk above 1:300 for T21 was 48 for both Cobas and Kryptor, although a few patients only had a high risk with one of the methods. Overall, the screen positive rate was 5.1% for both instruments. In the trisomy groups the calculated risks for T21, T18, and T13 agreed well between Cobas and Kryptor. Conclusions: The screen positive rate for T21 (5.1% did not differ between the two analytical platforms in our screening population, although PAPP-A measurements form Cobas were significantly lower than those from Kryptor. The calculated risks for the pregnancies affected by trisomies using hCGβ MoM and PAPP-A MoM from Kryptor agreed well with those from Cobas. Keywords: Aneuploidy, Combined first trimester screening, First trimester risk assessment, Free β-human chorionic gonadotropin (hCGβ, Pregnancy associated plasma protein-A (PAPP-A, Trisomy screening

The role of histopathological examination of the products of conception following first-trimester miscarriage in Erbil Maternity Hospital

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Payman Anwar Rashid

2017-12-01

Full Text Available Background and objective: Miscarriage represents a common problem that occurs in the first trimester of pregnancy. There is no general agreement on the value of submitting tissues from uterine evacuation in cases of miscarriage for histopathological examination. This study aimed to evaluate the role of histopathological examination in cases of first-trimester miscarriage. Methods: This is a descriptive study was carried out over a period of 14 months, from January 2015 to March 2016, at Erbil Maternity Hospital. A total of 375 biopsies from patients admitted to maternity hospital with the diagnosis of the first trimester miscarriage and cases of spontaneous miscarriage were included in this study. The clinical data including age, parity, gestational age, clinical diagnosis, the method of evacuation, and other relevant information were collected and submitted for histopathological examination. Results: Incomplete miscarriage was the commonest type of miscarriage and constituted 65.3% of the studied group and surgical evacuation was the most common method of termination. The histopathology reports confirmed the pregnancy in all patients and revealed retained product of normal pregnancy in 315 (86.6% cases, partial mole in 15 (4% patients, complete hydatidiform mole in one (0.2% case, decidual reaction in 21 (5.6% cases and no product of conception in 13 (3.4% cases. Conclusion: Histopathological examination of the products of conception is an important method in detecting undiagnosed molar pregnancy that needs special follow-up and further management.

Current maternal age recommendations for prenatal diagnosis: a reappraisal using the expected utility theory.

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Sicherman, N; Bombard, A T; Rappoport, P

1995-01-01

The expected utility theory suggests eliminating an age-specific criterion for recommending prenatal diagnosis to patients. We isolate the factors which patients and physicians need to consider intelligently in prenatal diagnosis, and show that the sole use of a threshold age as a screening device is inadequate. Such a threshold fails to consider adequately patients' attitudes regarding many of the possible outcomes of prenatal diagnosis; in particular, the birth of a chromosomally abnormal child and procedural-related miscarriages. It also precludes testing younger women and encourages testing in patients who do not necessarily require or desire it. All pregnant women should be informed about their prenatal diagnosis options, screening techniques, and diagnostic procedures, including their respective limitations, risks, and benefits.

First-trimester combined screening for Down syndrome

DEFF Research Database (Denmark)

Pihl, Kasper; Sørensen, Tina Lindvig; Nørgaard Pedersen, Bent

2008-01-01

OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth w...

Parental response to severe or lethal prenatal diagnosis

DEFF Research Database (Denmark)

Lou, Stina; Jensen, Lotte Groth; Petersen, Olav Bjørn

2017-01-01

Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify and synt......Objective A severe or lethal prenatal diagnosis places great demands on prospective parents, who face choices of far-reaching consequences, such as continuing or terminating the pregnancy. How best to support these parents is a clinical challenge. This systematic review aimed to identify...... and synthesize the qualitative evidence regarding prospective parents’ responses to such prenatal diagnoses. Methods Following PRISMA guidelines, four databases were systematically searched and 28 studies met the inclusion criteria. Thematic analysis guided data extraction and synthesis of findings. The CERQual....... Prospective parents who continued the pregnancy wished to be acknowledged as parents, and engaged in planning to obtain a sense of meaning and control. Selective disclosure and concerns about negative responses were issues both for the parents who terminated and those who continued a pregnancy. Conclusion...

Maternity Care Update: Prenatal Care and Specific Conditions.

Science.gov (United States)

Smith, Andrew; Barr, Wendy B; Bassett-Novoa, Erin; LeFevre, Nicholas

2018-04-01

Early initiation of prenatal care is associated with improved health outcomes for women and newborns. An essential element of prenatal care is determining the estimated due date, ideally using a first-trimester ultrasound. Laboratory tests should be obtained to screen for conditions that can affect pregnancy. Routine immunizations for all pregnant women include influenza vaccine; tetanus toxoid, reduced diphtheria, acellular pertussis (Tdap) vaccine. All women should be screened for gestational diabetes mellitus in midpregnancy. Women with risk factors also should be screened in the first trimester. Aspirin (ie, 60 to 150 mg/day) starting at 12 to 16 weeks reduces the risk of preeclampsia for women at high risk. Chronic medical conditions should be managed according to guidelines to promote optimal control. Women with such conditions may require testing in the late third trimester. Induction of labor may be offered to these women before 41 weeks, based on the condition and relative risks and benefits of continued pregnancy. Women without maternal or fetal indications should not be offered elective delivery before 39 weeks, but should be offered induction at 41 weeks with a recommendation for delivery before 42 weeks. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

Platelet Count in First Trimester of Pregnancy as a Predictor of Perinatal Outcome

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Santiago Garcia-Tizon Larroca

2017-02-01

CONCLUSIONS: Maternal and pregnancy factors can poorly predict relevant changes in PLT at the first trimester of gestation. PLT at first trimester of pregnancy might predict adverse perinatal outcome in combination with other markers.

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

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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.

Pregnancy outcomes after first-trimester vaginitis drug therapy.

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Rosa, F W; Baum, C; Shaw, M

1987-05-01

Prescription frequencies in the first trimester were compared for miconazole, clotrimazole, nystatin, candicidin, aminacrine compounds, and metronidazole before deliveries involving congenital anomalies versus those not linked to congenital anomalies. Prescriptions before spontaneous abortions were compared with those in the first trimester of deliveries and with those before legal abortions. No statistically significant association was observed with any of these agents for the overall frequency of birth defects or for specific birth defects analyzed (cardiovascular defects, oral clefts, and spina bifida). Two hundred fifty miconazole exposures among 4264 spontaneous abortions, compared with 2236 in the first trimester of 55,736 deliveries, provided an estimated relative risk of 1.4 (95% confidence limits 1.2-1.5). One hundred twelve treatments with clotrimazole among the spontaneous abortions, compared with 1086 among the deliveries, provided a relative risk of 1.4 (95% confidence limits 1.1-1.6). In contrast, large numbers of exposures to nystatin and aminacrine compounds did not show this association, suggesting that spontaneous abortions are caused by the imidazole agents miconazole and clotrimazole rather than the condition being treated. Because many associations were examined without previous hypotheses, and because the data were inadequate to show an elevated risk for clotrimazole when comparing spontaneous with legal abortion exposures, these findings are considered to be a signal for further studies rather than definitive in themselves.

Karyotyping or rapid aneuploidy detection in prenatal diagnosis? The different views of users and providers of prenatal care

NARCIS (Netherlands)

Boormans, E. M. A.; Birnie, E.; Bilardo, C. M.; Oepkes, D.; Bonsel, G. J.; van Lith, J. M. M.

2009-01-01

Developments in prenatal diagnosis raise the question which test strategy should be implemented. However, preferences of women and caregivers are underexposed. This study investigates what kind of prenatal test pregnant women and caregivers prefer and if differences between the groups exist, using

Feasibility of screening and prevalence of prenatal depression in an obstetric setting in Spain.

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de la Fe Rodríguez-Muñoz, María; Le, Huynh-Nhu; de la Cruz, Ivette Vargas; Crespo, María Eugenia Olivares; Méndez, Nuria Izquierdo

2017-08-01

Prenatal depression is a significant public health problem and one of the main risk factors for postpartum depression. Limited research in perinatal depression has been conducted in Spain. The objectives of this study was to: (1) examine the feasibility of integrating a screening program for prenatal depression in an obstetrics setting in a large urban hospital in Spain; and (2) provide an initial estimate of the prevalence rate of the severity of depressive symptoms during pregnancy. Screening for prenatal depression was conducted during the first trimester in an obstetrics setting in an urban hospital in Madrid, Spain 2014-2015. The Patient Health Questionnaire (PHQ-9) was used as the main screener. Of the 730 women asked to complete the screening protocol, 445 (60.9%) completed the PHQ-9 during the first trimester. Those who did not complete the screening were more likely to be immigrants and did not read Spanish. The prevalence of moderate to high severity of prenatal depressive symptoms prenatal depressive is 14.8% (PHQ-9≥10). It is possible to integrate screening for prenatal depression in an urban obstetrics setting, but there are significant structural barriers to implementation. The prevalence of significant prenatal depressive symptoms is similar to previous research in Spain and adds to the limited research in this area. Copyright © 2017 Elsevier B.V. All rights reserved.

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

Science.gov (United States)

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

1994-01-01

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

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

Science.gov (United States)

Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

2016-01-01

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

Maternal leptin and body composition in the first trimester of pregnancy.

LENUS (Irish Health Repository)

Fattah, Chro

2012-02-01

BACKGROUND: Leptin is produced mainly by adipocytes. Levels are increased in women with obesity and during pregnancy. Increased levels are also associated with pregnancy complications such as, pre-eclampsia and gestational diabetes mellitus. OBJECTIVE: We studied what component of body composition correlated best with maternal leptin in the first trimester of pregnancy and, whether maternal leptin correlated better with visceral fat rather than fat distributed elsewhere. SUBJECTS AND METHODS: Women were recruited in the first trimester. Maternal adiposity was measured using body mass index and advanced bioelectrical impedance analysis. Maternal leptin was measured using an enzyme-linked immunosorbent assay technique. RESULTS: Of the 100 subjects studied, the mean leptin concentration was 37.7 ng\\/ml (range: 2.1-132.8). Leptin levels did not correlate with gestational age in the first trimester, maternal age, parity or birth weight. Serum leptin correlated positively with maternal weight and body mass index, and with the different parameters of body composition. On multiple regression analysis, serum leptin correlated with visceral fat but not fat distributed elsewhere. CONCLUSIONS: Visceral fat is the main determinant of circulating maternal leptin in the first trimester of pregnancy. This raises the possibility that maternal leptin in early pregnancy may be a marker for the development of metabolic syndrome, including diabetes mellitus.

Diastrophic dysplasia: prenatal diagnosis and review of the literature

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Jonathan Celli Honório

Full Text Available CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene. Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions and mesomelia (shortening of the intermediate portions. Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

Prenatal diagnosis of amniotic band syndrome

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Laxmi Devi Padmanabhan

2016-01-01

Full Text Available Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

NARCIS (Netherlands)

Vandenberghe, G.; Mensink, I.; Twisk, J.W.; Blankenstein, M.A.; Heijboer, A.C.; van Vugt, J.M.

2011-01-01

Objective: To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). Methods: PlGF concentration was retrospectively measured in first trimester

Association of Prenatal Ibuprofen Exposure with Birth Weight and Gestational Age: A Population-Based Sibling Study.

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Nezvalová-Henriksen, Kateřina; Wood, Mollie; Spigset, Olav; Nordeng, Hedvig

2016-01-01

Three studies so far have investigated the effect of prenatal non-steroidal anti-inflammatory drug (NSAID) exposure on birth weight and gestational age. The aim in this study was to evaluate the association of prenatal ibuprofen with birth weight and gestational age at birth, using a sibling design in an attempt to adjust for the possibility of familial confounding. Using data from the Norwegian Mother and Child Cohort Study (MoBa) and the Medical Birth Registry of Norway (MBRN), we identified 28 597 siblings, of whom 1080 were prenatally exposed to ibuprofen and 26 824 were not exposed to any NSAID. Random and fixed effects models with propensity score adjustment were used to evaluate the effects of ibuprofen exposure on birth weight and gestational age. Ibuprofen exposure during the first trimester was associated with a decrease in birth weight of 79 grams (95% confidence interval -133 to -25 grams). In contrast, second and/or third trimester exposure, and duration of exposure had no impact on the effect estimates. We found no association between ibuprofen exposure and gestational age at birth. Our results suggest that prenatal exposure to ibuprofen during the first trimester is associated with a slight decrease in birth weight. The association does not seem to be attributable to shared genetics and family environment, and could be explained by either exposure to ibuprofen, or to non-shared confounding between pregnancies.

Decreased IGF-1 concentration during the first trimester of pregnancy in women with normal somatotroph function.

Science.gov (United States)

Persechini, Marie-Laure; Gennero, Isabelle; Grunenwald, Solange; Vezzosi, Delphine; Bennet, Antoine; Caron, Philippe

2015-08-01

A decrease of insulin-like growth factor-I levels (IGF-I) has been reported during the first trimester of pregnancy in women with acromegaly before the secretion of placental growth hormone (GH) progressively increases IGF-1 concentration. To evaluate variations of concentrations of IGF-1, insulin-like growth factor (IGF)-binding protein-3 (IGF-BP3) and GH during the first trimester of pregnancy in women with normal somatotroph function. Sixteen women (median age 31 years) with as who were followed for benign thyroid disorders (n = 15) or prolactin-secreting microadenoma (n = 1) were evaluated before and in the first trimester of pregnancy. Serum concentrations of GH, IGF-1, IGF-BP3, TSH and estradiol (E2) were measured before and in the first trimester (5.4 ± 2.2 weeks of gestation). Before pregnancy, somatotroph and thyroid functions (median TSH 1.2 mU/L) were normal in all women. At the first trimester IGF-1 levels decreased significantly (before = 210 ng/mL, first trimester = 145 ng/mL, p function, IGF-1 levels decrease in the first trimester of pregnancy without changes in GH or IGF-BP3 levels. These results confirm liver resistance to GH as a consequence of the physiological increase of estrogens during the first trimester.

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

Science.gov (United States)

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

2016-05-01

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

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

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Santos Cláudia Maria Carvalho dos

1998-01-01

Full Text Available We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM in high-risk children, carried out in Rio de Janeiro.

Prenatal diagnosis of beta-thalassaemia: experience in a developing country.

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Saxena, R; Jain, P K; Thomas, E; Verma, I C

1998-01-01

We present our experience with the amplification refractory mutation system (ARMS) for the prenatal diagnosis of beta-thalassaemia in 415 pregnancies of 360 women. Five mutations of the beta-thalassaemia gene common in Asian Indians accounted for 89.2 per cent and rare mutations for 7.2 per cent of all mutant chromosomes, while 3.3 per cent of chromosomes remained uncharacterized. Identical mutations were present in both parents in 43.2 per cent of cases, due to caste-based marriages in India. A confirmed diagnosis was given in 401 (98.3 per cent) cases, of which a complete diagnosis (whether the fetus was normal, a carrier, or homozygous) was possible in 391 (94.2 per cent) of the cases. In 15 couples, the mutation was identified in only one parent. In nine of these, the identified mutation was not present in the fetus, predicting normal/carrier status, while in five the identified mutation was present in the fetus, suggesting carrier/affected status. The abortion rate was 3.9 per cent. Pitfalls in diagnosis were failure of oligonucleotides to work, maternal contamination, and false paternity. The ARMS provides an inexpensive, robust and non-isotopic method for the prenatal diagnosis of beta-thalassaemia in India. Recommendations are outlined for establishing a prenatal diagnostic service in developing countries.

Prenatal diagnosis of Caudal Regression Syndrome : a case report

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Celikaslan Nurgul

2001-12-01

Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

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.

First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

NARCIS (Netherlands)

Vandenberghe, G.; Mensink, I.; Twisk, J. W. R.; Blankenstein, M. A.; Heijboer, A. C.; van Vugt, J. M. G.

2011-01-01

To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). PlGF concentration was retrospectively measured in first trimester serum specimens of 23

Prenatal ultrasound diagnosis of isolated arthrogryposis of feet.

Science.gov (United States)

Degani, S; Shapiro, I; Lewinsky, R; Sharf, M

1989-01-01

Prenatal diagnosis of isolated arthrogryposis of the feet at the ankle joint was made by ultrasound and confirmed at birth. The criteria for ruling out joint contracture are absence of fixed limb deformity, and free fetal motion.

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

DEFF Research Database (Denmark)

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

2015-01-01

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

Ebstein's anomaly with imperforate tricuspid valve. Prenatal diagnosis

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Zielinsky Paulo

2000-01-01

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

Application of First Trimester Screening in the Prognostication of Small for Gestational Age

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Reza Saeidi

2018-05-01

Full Text Available Background: Fetal growth restriction is defined as the failure of the fetus to achieve its full growth potential. The present study aimed to investigate the application of first trimester screening in the prediction of small for gestational age (SGA.Methods: This cohort study was conducted on the consecutive and unselected women with singleton pregnancies undergoing routine first-trimester examinations in a health center affiliated to Neyshabur University of Medical Sciences in Razavi Khorasan Iran during February 2014-March 2016. Subjects received a first-trimester visit by a physician, which included the entry of basic maternal characteristics, medical history, measurement of maternal weight and height, ultrasound examination for fetal anatomy, and measurement of crown-rump length to assess gestational age.Results: SGA was significantly correlated with maternal age, parity, and body mass index. Furthermore, a significant association was observed between SGA and smoking habits in the mothers.Conclusion: According to the results, first trimester screening was a useful method for the prediction of SGA.

Prenatal diagnosis of Down syndrome: A 13-year retrospective study

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Ana Vičić

2017-12-01

Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

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

OpenAIRE

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

2013-01-01

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

Indication of prenatal diagnosis in pregnancies complicated by undetectable second-trimester maternal serum estriol levels.

Science.gov (United States)

Minsart, Anne-Frédérique; Van Onderbergen, Anne; Jacques, Francotte; Kurt, Crener; Gillerot, Yves

2008-07-01

Undetectable maternal serum unconjugated estriol levels in the second-trimester screening test have been associated with congenital pathology and an adverse pregnancy outcome. We reviewed outcomes of pregnancies with undetectable levels of estriol (threatened fetal abortion, one case of multiple congenital anomalies and one case of isolated adrenocorticotropin hormone deficiency. There were 6 women remaining with unexplained undetectable estriol. Undetectable maternal estriol values may indicate a severe fetal pathology and should lead to further investigations.

Prenatal diagnosis of congenital mesoblastic nephroma associated with renal hypertension in a premature child.

Science.gov (United States)

Siemer, Stefan; Lehmann, Jan; Reinhard, Harald; Graf, Norbert; Löffler, Gerhard; Hendrik, Hand; Remberger, Klaus; Stöckle, Michael

2004-01-01

In the present article, we report, for the first time, a prenatal diagnosis of a congenital mesoblastic nephroma in combination with a post-partum hyperreninemia with hypertension. A newborn was delivered at 35 weeks gestation who had an intrauterine diagnosis of a renal mass as early as 32 weeks gestational age by ultrasound examination. Tumor nephrectomy was performed on day 11 after delivery when an increase in hypertension was observed in the newborn.

Antenatal screening for aneuploidy--surveying the current situation and planning for non-invasive prenatal diagnosis in New Zealand.

Science.gov (United States)

Eastwood, Ashley; Webster, Dianne; Taylor, Juliet; Mckay, Richard; McEwen, Alison; Sullivan, Jan; Pope-Couston, Rachel; Stone, Peter

2016-01-29

To gauge clinical opinion about the current system and possible changes as well as providing a forum for education about Non-Invasive Prenatal Testing (NIPT). A series of workshops for doctors and midwives, supported by the National Screening Unit of the Ministry of Health and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists, were held in the main centres of New Zealand. Following a brief education session, a structured evaluation of current screening and future possibilities was undertaken by questionnaire. One hundred and eight maternity carers participated in 5 workshops. Over 40% identified barriers to current screening. More than 60% would support NIPT in the first trimester. The majority of carers provided their own counselling support for women. The survey has shown general enthusiasm for the introduction of publically funded NIPT into prenatal screening in New Zealand. Barriers to utilisation of the current system have been identified and enhancements to screening performance with guidelines around conditions to be screened for would be supported.

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Science.gov (United States)

Gong, Zhuwen; Yu, Yongguo; Zhang, Qigang; Gu, Xuefan

2015-04-01

To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing. For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing. For prenatal diagnosis, genomic DNA was extracted from cultured fetal amniotic fluid cells and subjected to analysis of the same mutations. A low-frequency frameshifting mutation c.989_995del7 (p.H330LfsX2, inherited from his father) and a truncating mutation c.3971C>T (p.P1324L, inherited from his mother) have been identified in the affected child and considered to be pathogenic. The two mutations were subsequently verified by Sanger sequencing. Upon prenatal diagnosis, the fetus was found to carry two mutations. The combined next-generation sequencing and Sanger sequencing can reduce the time for diagnosis and identify subtypes of Fanconi anemia and the mutational sites, which has enabled reliable prenatal diagnosis of this disease.

Fetal first trimester growth is not associated with kidney outcomes in childhood

NARCIS (Netherlands)

H. Bakker (Hanneke); R. Gaillard (Romy); A. Hofman (Albert); I.K.M. Reiss (Irwin); E.A.P. Steegers (Eric); V.W.V. Jaddoe (Vincent)

2017-01-01

textabstractBackground: Impaired fetal growth is associated with increased risks of kidney diseases in later life. Because human development rates are highest during the first trimester, this trimester may be a particularly critical period for kidney outcomes. We have therefore examined the

Prenatal exposure to the 1944-45 Dutch 'hunger winter' and addiction later in life.

Science.gov (United States)

Franzek, Ernst J; Sprangers, Niels; Janssens, A Cecile J W; Van Duijn, Cornelia M; Van De Wetering, Ben J M

2008-03-01

Prenatal exposure to severe famine has been associated with an increased risk of schizophrenia and affective disorders. We studied the relationship between prenatal exposure to famine during the Dutch hunger winter of 1944-45 and addiction later in life. A case-control study. The Rotterdam city area during the Dutch hunger winter lasting from mid-October 1944 to mid-May 1945. From February 1945 to mid-May 1945 the hunger winter was characterized by a famine peak. Patients are native Dutch addicted patients from the Rotterdam Addiction Treatment Program and controls are native Dutch inhabitants of Rotterdam, born between 1944 and 1947. Exposure to the whole hunger winter (treatment for an addictive disorder [OR = 1.34, 95% confidence interval (CI) 1.10-1.64]. Stratification by sex shows that the odds of exposure during the first trimester was significantly higher only among men (OR = 1.34, 95% CI 1.05-1.72), but not among women (OR = 1.26, 95% CI 0.88-1.81). The odds of exposure to the peak of the hunger winter during the first trimester of gestation were also significantly higher among addiction treatment patients (OR = 1.61, 95% CI 1.22-2.12). We did not find any significant differences for the second and third trimesters of gestation. First-trimester prenatal exposure to famine appears to be associated with addiction later in life. The study confirms the adverse influence of severe malnutrition on brain development and maturation, confirms the influence of perinatal insults on mental health in later life and gives rise to great concern about the possible future consequences for the hunger regions in our world.

Prenatal control of nondeletional α-thalassemia: first experience in mainland China.

Science.gov (United States)

Li, Jian; Li, Ru; Zhou, Jian-Ying; Xie, Xing-Mei; Liao, Can; Li, Dong-Zhi

2013-09-01

To demonstrate the performance of nondeletional α-thalassemia prevention at a mainland Chinese hospital. A prenatal control program for nondeletional hemoglobin H (Hb H) disease was conducted from January 2010 to June 2012. All couples were screened for α-thalassemia trait, and for couples in whom one partner was tested positive for α(0) -thalassemia, the other was subjected to screening for Hb Constant Spring and Hb Quong Sze mutations. Prenatal diagnoses were offered in pregnancies of couples at-risk for nondeletional Hb H disease. Of the 30,152 couples screened, 18 (0.06%) were diagnosed as at risk for nondeletional Hb H disease. There were other 13 at-risk couples who were referred to prenatal diagnosis because they had previously an affected child. Of the 31 cases with prenatal invasive tests, 11 (35.5%) had diagnosis by chorionic villous sampling, and 20 (64.5%) had amniocentesis. Totally, 12 fetuses were diagnosed with nondeletional Hb H disease, and all of the affected pregnancies were terminated. Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in southern China, and a number of nondeletional Hb H disease have been prevented during the past 3 years of operation. © 2013 John Wiley & Sons, Ltd.

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

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Merilainen Anna

2014-01-01

Full Text Available Objective To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. Methods During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided into two time periods; 2002-2006 and 2007-2011. Results During the first half of the study period, the detection rate (DR was 77.3% with a 4.9% false-positive rate (FPR. During the latter half, the DR was 77.1% with a 2.8% FPR. Conclusions An important issue is the number of invasive procedures needed to detect one case of Down's syndrome. The screening performance improved markedly in the latter five years period since the FPR lowered from 4.9% to 2.8% and the number of invasive procedures needed to detect one case of Down's syndrome lowered from 15 to 11.

Nuchal translucency and first trimester risk assessment: a systematic review.

Science.gov (United States)

Sheppard, Celeste; Platt, Lawrence D

2007-06-01

First-trimester risk assessment for fetal aneuploidy using nuchal translucency (NT) measurement is rapidly gaining popularity in the United States. In combination with maternal serum markers in the first trimester, the screening performance is exceptionally good, with detection rates of more than 80% at a screen positive rate of 5%. Recently, the method has been validated for screening for Down syndrome and other aneuploidies in multicenter trials in the United States and elsewhere. Compliance with established criteria for measurement of the NT is essential to achieve uniform reliability and high screening test sensitivity. There is an international consensus about the importance of specific training in the NT examination, conformity to standards of NT measurement, and regular audit for quality assurance. In the United States, the Nuchal Translucency Quality Review program has been developed to administer credentialing and quality review for registered practitioners. The Nuchal Translucency Quality Review credentials signify the proficiency of the sonographer or sonologist in NT measurement and participation in a regular quality assurance audit. We encourage accreditation of clinical sites offering first-trimester risk assessment to ensure the highest quality care.

The Knowledge Base and Acceptability of Prenatal Diagnosis by ...

African Journals Online (AJOL)

AJRH Managing Editor

African Journal of Reproductive Health December 2014; 18(1): 127. ORIGINAL RESEARCH ... unskilled and self-employed positively influenced attitude towards prenatal diagnosis. .... exercise and volume of water intake per day, willingness ...

Co-variables in first trimester maternal serum screening

NARCIS (Netherlands)

de Graaf, I. M.; Cuckle, H. S.; Pajkrt, E.; Leschot, N. J.; Bleker, O. P.; van Lith, J. M.

2000-01-01

The objective of this study was to determined the influence of maternal weight, maternal smoking habits, gravidity, parity and fetal gender on the level of maternal serum marker used in first trimester screening for Down syndrome. A total of 2449 singleton unaffected pregnancies from two centres

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.)

Maternal weight and body composition in the first trimester of pregnancy.

LENUS (Irish Health Repository)

Fattah, Chro

2012-02-01

OBJECTIVE: Previous studies on weight gain in pregnancy suggested that maternal weight on average increased by 0.5-2.0 kg in the first trimester of pregnancy. This study examined whether mean maternal weight or body composition changes in the first trimester of pregnancy. DESIGN: Prospective observational study. POPULATION: We studied 1,000 Caucasian women booking for antenatal care in the first trimester of pregnancy. SETTING: Large university teaching hospital. METHODS: Maternal height and weight were measured digitally in a standardized way and Body Mass Index (BMI) was calculated. Maternal body composition was measured using segmental multifrequency Bioelectrical Impedance Analysis (BIA). Sonographic examination confirmed the gestational age and a normal ongoing singleton pregnancy in all subjects. MAIN OUTCOME MEASURES: Maternal weight, maternal body composition. RESULTS: The mean BMI was 25.7 kg\\/m(2) and 19.0% of the women were in the obese category (> or =30.0 kg\\/m(2)). Cross-sectional analysis by gestational age showed that there was no change in mean maternal weight, BMI, total body water, fat mass, fat-free mass or bone mass before 14 weeks gestation. CONCLUSIONS: Contrary to previous reports, mean maternal weight and mean body composition values remain unchanged in the first trimester of pregnancy. This has implications for guidelines on maternal weight gain during pregnancy. We also recommend that calculation of BMI in pregnancy and gestational weight gain should be based on accurate early pregnancy measurements, and not on self-reported or prepregnancy measurements.

Adiponectin and leptin as first trimester markers for gestational diabetes mellitus

DEFF Research Database (Denmark)

Thagaard, Ida Näslund; Krebs, Lone; Holm, Jens Christian

2017-01-01

Background: Gestational diabetes mellitus (GDM) is increasing partly due to the obesity epidemic. Adipocytokines have thus been suggested as first trimester screening markers for GDM. In this study we explore the associations between body mass index (BMI) and serum concentrations of adiponectin......, leptin, and the adiponectin/leptin ratio. Furthermore, we investigate whether these markers can improve the ability to screen for GDM in the first trimester. Methods: A cohort study in which serum adiponectin and leptin were measured between gestational weeks 6+0 and 14+0 in 2590 pregnant women...

Caudate Asymmetry: A Neurobiological Marker of Moderate Prenatal Alcohol Exposure in Young Adults

OpenAIRE

Willford, Jennifer; Day, Richard; Aizenstein, Howard; Day, Nancy

2010-01-01

This study identified structural changes in the caudate nucleus in offspring of mothers who drank moderate levels of alcohol during pregnancy. In addition, the effect of duration of alcohol use during pregnancy was assessed. Young adults were recruited from the Maternal Health Practices and Child Development Project. Three groups were evaluated: prenatal alcohol exposure (PAE) during all three trimesters (3T), PAE during the first trimester only (1T), and controls with no PAE (0T). Magnetic r...

First Trimester Influenza Vaccination and Risks for Major Structural Birth Defects in Offspring.

Science.gov (United States)

Kharbanda, Elyse Olshen; Vazquez-Benitez, Gabriela; Romitti, Paul A; Naleway, Allison L; Cheetham, T Craig; Lipkind, Heather S; Klein, Nicola P; Lee, Grace; Jackson, Michael L; Hambidge, Simon J; McCarthy, Natalie; DeStefano, Frank; Nordin, James D

2017-08-01

To examine risks for major structural birth defects in infants after first trimester inactivated influenza vaccine (IIV) exposures. In this observational study, we used electronic health data from 7 Vaccine Safety Datalink sites to examine risks for selected major structural defects in infants after maternal IIV exposure. Vaccine exposures for women with continuous insurance enrollment through pregnancy who delivered singleton live births between 2004 and 2013 were identified from standardized files. Infants with continuous insurance enrollment were followed to 1 year of age. We excluded mother-infant pairs with other exposures that potentially increased their background risk for birth defects. Selected cardiac, orofacial or respiratory, neurologic, ophthalmologic or otologic, gastrointestinal, genitourinary and muscular or limb defects were identified from diagnostic codes in infant medical records using validated algorithms. Propensity score adjusted generalized estimating equations were used to estimate prevalence ratios (PRs). We identified 52 856 infants with maternal first trimester IIV exposure and 373 088 infants whose mothers were unexposed to IIV during first trimester. Prevalence (per 100 live births) for selected major structural birth defects was 1.6 among first trimester IIV exposed versus 1.5 among unexposed mothers. The adjusted PR was 1.02 (95% CI 0.94-1.10). Organ system-specific PRs were similar to the overall PR. First trimester maternal IIV exposure was not associated with an increased risk for selected major structural birth defects in this large cohort of singleton live births. Copyright © 2017 Elsevier Inc. All rights reserved.

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.

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

Science.gov (United States)

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

2017-06-01

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

Association between prenatal exposure to analgesics and risk of schizophrenia

DEFF Research Database (Denmark)

Sørensen, Holger J; Mortensen, Erik L; Reinisch, June M

2004-01-01

infections, concomitant drug treatment during pregnancy, an index of pregnancy complications, parental social status and parental age. RESULTS: In a risk set of 7999 individuals, 116 cases of schizophrenia were found (1.5%). Prenatal exposure to analgesics in the second trimester was associated......BACKGROUND: Disturbances in the central nervous system originating during foetal life may increase the risk of schizophrenia. AIMS: To illuminate the hypothesis that prenatal exposure to analgesics may affect foetal neurodevelopment, leading to increased risk of schizophrenia in adulthood. METHOD......: Using data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Central Register, we studied the relationship between prenatal exposure to analgesics and the risk of schizophrenia. The effect of prenatal exposure was adjusted for parental history of schizophrenia, second-trimester viral...

ACR Appropriateness Criteria® First Trimester Vaginal Bleeding.

Science.gov (United States)

Brown, Douglas L; Packard, Ann; Maturen, Katherine E; Deshmukh, Sandeep Prakash; Dudiak, Kika M; Henrichsen, Tara L; Meyer, Benjamin J; Poder, Liina; Sadowski, Elizabeth A; Shipp, Thomas D; Simpson, Lynn; Weber, Therese M; Zelop, Carolyn M; Glanc, Phyllis

2018-05-01

Vaginal bleeding is not uncommon in the first trimester of pregnancy. The majority of such patients will have a normal intrauterine pregnancy (IUP), a nonviable IUP, or an ectopic pregnancy. Ultrasound (US) is the primary imaging modality in evaluation of these patients. US, along with clinical observations and serum human chorionic gonadotropin levels, can usually distinguish these causes. Although it is important to diagnose ectopic pregnancies and nonviable IUPs, one should also guard against injury to normal pregnancies due to inappropriate treatment with methotrexate or surgical intervention. Less common causes of first trimester vaginal bleeding include gestational trophoblastic disease and arteriovenous malformations. Pulsed methods of Doppler US should generally be avoided in the first trimester when there is a normal, or a potentially normal, IUP. Once a normal IUP has been excluded, Doppler US may be useful when other diagnoses such as retained products of conception or arteriovenous malformations are suspected. MRI may occasionally be helpful as a problem-solving tool. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Copyright © 2018 American College of Radiology. Published by Elsevier Inc. All rights reserved.

Genotyping and prenatal diagnosis of a large spinocerebellar ataxia ...

Indian Academy of Sciences (India)

2011-08-19

Aug 19, 2011 ... range of eye movements with horizontal nystagmus, dysdi- adochokinesia, and ... individuals; open symbols indicate normal individuals; grey sym- bols indicate .... prenatal diagnosis of a fetus at risk of MJD. In conclusion, we ...

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

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Antonietta Zappu

2015-12-01

Full Text Available Methylmalonic aciduria (MMA and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.To date, the early prenatal diagnosis of MMA and homocystinuria, cblC type is performed by determination of methylmalonic acid and total homocysteine (Hcy in amniotic fluid supernatant. In this paper we report a case of prenatal diagnosis, using genetic analysis, of MMA and homocystinuria, cblC type in an at risk couple. Direct sequencing analysis of the amplified products of chorionic villi biopsy extracted DNA showed normal sequence in the fetal DNA. Mutation analysis of the MMACHC gene is more cost-effective and less time-consuming than the biochemical approach. Early prenatal treatment may have an impact on the long-term complications associated with cblC disease. Future studies with the aim of determining the long-term benefits of daily parenteral OHCbl started soon after conception in at risk mothers should be considered. In this context early prenatal diagnosis could determine whether therapy needs to be continued.

Predisposing Factors to Abnormal First Trimester Placentation and the Impact on Fetal Outcomes

Science.gov (United States)

Kroener, Lindsay; Wang, Erica T.; Pisarska, Margareta D.

2016-01-01

Normal placentation during the first trimester sets the stage for the rest of pregnancy and involves a finely orchestrated cellular and molecular interplay of maternal and fetal tissues. The resulting intrauterine environment plays an important role in fetal programming and the future health of the fetus, and is impacted by multiple genetic and epigenetic factors. Abnormalities in placentation and spiral artery invasion can lead to ischemia, placental disease and adverse obstetrical outcomes including preeclampsia, intrauterine growth restriction, and placental abruption. Although first trimester placentation is affected my multiple factors, preconception environmental influences such as mode of conception, including assisted reproductive technologies which result in fertilization in vitro and intrauterine influences due to sex differences are emerging as potential significant factors impacting first trimester placentation. PMID:26696276

Early Biochemical Screening for Fetal Aneuploidy in the First Trimester

DEFF Research Database (Denmark)

Tørring, Niels

2013-01-01

Background Screening for fetal trisomy 21 in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free beta human choriogonadotropin (free βhCG). With the recent launch of the PAPP-A free βhCG and assays on the Roche Cobas and Elecsys...... assays showed slopes of 0.94 and 0.95 and Pearson’s correlation of r = 0.981 and r = 0.987 respectively. Similar comparison to AutoDELFIA PerkinElmer Perkin gave slopes of 0,83 (free βhCG) and 1.20 (PAPP-A). With a cut off at 1:300 the overall sensitivity of the first trimester screening including nuchal...

Prenatal diagnosis in Islamic countries: A narrative review in 2013

Directory of Open Access Journals (Sweden)

Mehrnoush Kosaryan

2014-02-01

Full Text Available To review the current situation regarding prenatal diagnosis in Islamic countries, a descriptive study (narrative review has been done based on the available data in formal international and national published documents in 2013. The sources were papers, websites and electronic books. Time limitation of searches has started 20 years ago. The main languages were English and Persian. Forty seven nations were officially referred as Islamic since more than 50% of the citizens are Muslims. The holy Qur'an and Islamic traditions (Shari'aht are the core of the civil laws, however, the legal grounds for prenatal diagnosis differ in Islamic countries. The main ground is the endangerment of a mother's life, however, severe suffering of parents (Osr va Haraj is also considered in the Islamic Republic of Iran. Some other important issues such as pregnancies as a result of rape should be discussed more in some Islamic countries. Many “hard to treat diseases” such as chromosomal disorders, major hemoglobinopathies, inborn error of metabolism, Duchene muscular dystrophy, spinal muscular dystrophy are being diagnosed early in embryonic period that medical abortion is advisable. Prenatal diagnosis is an acceptable practice in both religious and secular governments in the so-called Islamic countries

Plasma cross-gestational sphingolipidomic analyses reveal potential first trimester biomarkers of preeclampsia.

Directory of Open Access Journals (Sweden)

Aneta Dobierzewska

Full Text Available Preeclampsia (PE is a gestational disorder, manifested in the second half of pregnancy by maternal hypertension, proteinuria and generalized edema. PE is a major cause of maternal and fetal morbidity and mortality, accounting for nearly 40% of all premature births worldwide. Bioactive sphingolipids are emerging as key molecules involved in etiopathogenesis of PE, characterized by maternal angiogenic imbalance and symptoms of metabolic syndrome. The aim of this study was to compare the cross-gestational profile of circulating bioactive sphingolipids in maternal plasma from preeclamptic (PE versus normotensive control (CTL subjects with the goal of identifying sphingolipids as candidate first trimester biomarkers of PE for early prediction of the disease.A prospective cohort of patients was sampled at the first, second and third trimester of pregnancy for each patient (11-14, 22-24, and 32-36 weeks´ gestation. A retrospective stratified study design was used to quantify different classes of sphingolipids in maternal plasma. We used a reverse-phase high-performance liquid chromatography-tandem mass spectrometry (HPLC-ESI-MS/MS approach for determining different sphingolipid molecular species (sphingosine-1-phosphate (S1P, dihydro-sphingosine-1-phosphate (DH-S1P, sphingomyelins (SM and ceramides (Cer in cross-gestational samples of human plasma from PE (n = 7, 21 plasma samples across pregnancy and CTL (n = 7, 21 plasma samples across pregnancy patients.Plasma levels of angiogenic S1P did not change significantly in control and in preeclamptic patients´ group across gestation. DH-S1P was significantly decreased in second trimester plasma of PE patients in comparison to their first trimester, which could contribute to reduced endothelial barrier observed in PE. The major ceramide species (Cer 16:0 and Cer 24:0 tended to be up-regulated in plasma of control and PE subjects across gestation. The levels of a less abundant plasma ceramide species (Cer

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. Copyright © 2014 Elsevier B.V. All rights reserved.

A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

Science.gov (United States)

Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

2009-07-01

Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

Science.gov (United States)

Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

2015-01-01

Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

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Kohn, G; Cohen, M M; Beyth, Y; Ornoy, A

1977-01-01

Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism. Images PMID:856232

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

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Wilson, R Douglas

2014-10-01

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

Maternal first-trimester dietary intake and childhood blood pressure: the Generation R Study.

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van den Hil, Leontine C L; Rob Taal, H; de Jonge, Layla L; Heppe, Denise H M; Steegers, Eric A P; Hofman, Albert; van der Heijden, Albert J; Jaddoe, Vincent W V

2013-10-01

Suboptimal maternal dietary intake during pregnancy might lead to fetal cardiovascular adaptations and higher blood pressure in the offspring. The aim of the present study was to investigate the associations of maternal first-trimester dietary intake with blood pressure in children at the age of 6 years. We assessed first-trimester maternal daily dietary intake by a FFQ and measured folate, homocysteine and vitamin B₁₂ concentrations in the blood, in a population-based prospective cohort study among 2863 mothers and children. Childhood systolic and diastolic blood pressure was measured using a validated automatic sphygmomanometer. First-trimester maternal daily intake of energy, fat, protein and carbohydrate was not associated with childhood blood pressure. Furthermore, maternal intake of micronutrients was not associated with childhood blood pressure. Also, higher maternal vitamin B₁₂ concentrations were associated with a higher diastolic blood pressure (0·31 mmHg per standard deviation increase in vitamin B₁₂ (95% CI 0·06, 0·56)). After taking into account multiple testing, none of the associations was statistically significant. Maternal first-trimester folate and homocysteine concentrations were not associated with childhood blood pressure. The results from the present study suggest that maternal Fe intake and vitamin B₁₂ concentrations during the first trimester of pregnancy might affect childhood blood pressure, although the effect estimates were small and were not significant after correction for multiple testing. Further studies are needed to replicate these findings, to elucidate the underlying mechanisms and to assess whether these differences in blood pressure persist in later life.

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

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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.

A Qualitative Study of Factors Influencing Decision-Making after Prenatal Diagnosis of down Syndrome.

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Reed, Amy R; Berrier, Kathryn L

2017-08-01

Previous research has identified twenty-six factors that may affect pregnancy management decisions following prenatal diagnosis of DS; however, there is no consensus about the relative importance or effects of these factors. In order to better understand patient decision-making, we conducted expansive cognitive interviews with nine former patients who received a prenatal diagnosis of DS. Our results suggest that patients attached unique meanings to factors influencing decision-making regardless of the pregnancy outcome. Nineteen of the twenty-six factors previously studied and four novel factors (rationale for testing, information quality, pregnancy experience, and perception of parenting abilities and goals) were found to be important to decision-making. We argue that qualitative studies can help characterize the complexity of decision-making following prenatal diagnosis of DS.

An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

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Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

1998-11-01

The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

Leptin in first trimester pregnancy serum

DEFF Research Database (Denmark)

Hedley, Paula; Pihl, Kasper; Krebs, Lone

2009-01-01

and its relation to fetal growth disturbances were examined in this study. The study is a case-control study with 36 small-for-gestational-age (SGA) (pregnancies and 108 appropriate-for-gestational-age (AGA) (> or =5th percentile) pregnancies. The groups were matched by maternal age...... maternal BMI. There was no significant difference in maternal serum leptin concentrations between SGA and AGA pregnancies. In conclusion, SGA pregnancies are not associated with a lower maternal serum leptin concentration in first trimester. The maternal serum leptin concentration is largely determined...

Prenatal Sonographic Diagnosis of Acardiac Twins

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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

Prenatal Sonographic Diagnosis of Acardiac Twins

International Nuclear Information System (INIS)

Kim, Jeong Ah; Song, Mi Jin

2006-01-01

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

A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele

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Cavaliere, Alessandro; Dinatale, Angela; Cardinale, Giovanna; Ermito, Santina; La Galia, Tindara; Circosta, Barbara; Imbruglia, Laura; Rapisarda, Giusi

2009-01-01

Objective: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Methods: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele Conclusion: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination PMID:22439043

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

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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.

Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

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Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

2013-01-01

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.

An analysis of posture and back pain in the first and third trimesters of pregnancy.

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Franklin, M E; Conner-Kerr, T

1998-09-01

While the incidence of back pain during pregnancy has been shown to be high, few studies have investigated postural changes that occur during pregnancy and their relationship to back pain. The purpose of this study was to determine if posture and back pain changed from the first to the third trimester of pregnancy and whether there was a relationship between the two. Twelve healthy women who were having uncomplicated pregnancies participated in the study. During the first and third trimesters, each subject had their standing posture and back pain assessed by a Metrecom Skeletal Analysis System and a 0- to 10-cm line pain scale, respectively. Repeated measures analysis of variance and Pearson correlation coefficients were calculated on or between back pain and nine posture variables and revealed significant increases in third trimester back pain and postures compared with first trimester back pain (p postures for lumbar angle (p change in posture and back pain. These results suggest that in the standing position the lumbar lordosis and sagittal pelvic tilt increased and head position become more posterior as women progressed from the first trimester to the last trimester of pregnancy. These postural changes, however, were not related to back pain. This suggests that many of the posture-correcting clinical exercise regimens given to pregnant women need to be investigated.

Construction of modern Australian first trimester ultrasound dating and growth charts

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McLennan, A. C.; Schluter, P. J.; and the University of Queensland, Brisbane, Queensland Australia

2008-01-01

Full text: Accurate pregnancy dating is vital to obstetric management. However, first trimester fetal charts commonly used in Australia rely on data reported more than three decades ago. This study reports first trimester dating and growth charts for crown-rump length between 5 and 14 weeks of gestation and biparietal diameter between 9 and 14 weeks of gestation on an Australia population using modern real-time ultrasound equipment. All consenting eligible women attending a large Sydney clinic for first trimester ultrasound between March 2005 and December 2006 were recruited. Measurements were carried out to Australasian Society for Ultrasound in Medicine standard protocols. Statistical analyses were undertaken using polynomial regression models and thorough diagnostic checks made. Overall 396 eligible women consented to the study, with 268 between 9 and 14 weeks of gestation. The average participant age was 34 years (range 22-45 years), 371 and all yielded valid biometry measurements. Equations, means and 90% reference intervals for crown-rump length measurements and biparietal diameter measurements were derived using polynomial regression models. Thorough residual and diagnostic checks were made. Once validated by others, we believe they will warrant consideration for use by Australasian Society for Ultrasound in Medicine.

Family structure and use of prenatal care

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Elisabete Alves

2015-06-01

Full Text Available This cross-sectional study intended to assess the use of prenatal care according to the family structure in a population with free universal access to prenatal care. In 2005-2006, the Portuguese birth cohort was assembled by the recruitment of puerperae at public maternity wards in Porto, Portugal. In the current analysis, 7,211 were included. Data on socio-demographic characteristics, obstetric history, and prenatal care were self-reported. Single mothers were considered as those whose household composition did not include a partner at delivery. Approximately 6% of the puerperae were single mothers. These women were more likely to have an unplanned pregnancy (OR = 6.30; 95%CI: 4.94-8.04, an inadequate prenatal care (OR = 2.30; 95%CI: 1.32-4.02, and to miss the ultrasound and the intake of folic acid supplements during the first trimester of pregnancy (OR = 1.71; 95%CI: 1.30-2.27; and OR = 1.67; 95%CI: 1.32-2.13, respectively. The adequacy and use of prenatal care was less frequent in single mothers. Educational interventions should reinforce the use and early initiation of prenatal care.

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.

Neuroimaging parameters in early open spina bifida detection. Further benefit in first trimester screening?

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Iliescu, D; Comănescu, A; Antsaklis, P; Tudorache, Stefania; Ghiluşi, Mirela; Comănescu, Violeta; Paulescu, Daniela; Ceauşu, Iuliana; Antsaklis, A; Novac, Liliana; Cernea, N

2011-01-01

Morphological investigation of the central nervous system (CNS) in fetuses with positive markers for open spina bifida (OSB) detection, visualized by ultrasound during the first trimester of pregnancy. Data from fetuses that underwent routine first trimester ultrasound scan in our center during September 2007-March 2011 and presented abnormal aspects of the fourth ventricle, also referred as intracranial translucency (IT), provided the morphological support to evaluate CNS features. A neuro-histological study of posterior cerebral fossa illustrated anatomical features of the structures involved in the sonographic first trimester detection of neural tube defects. Abnormal IT aspects were found in OSB cases examined in the first trimester, but also in other severe cerebral abnormalities. Brain stem antero-posterior diameter (BS) and brain stem to occipital bone (BSOB) ratio may be more specific for OSB detection. Correlations between histological aspects of posterior brain fossa and ultrasound standard assessment have been made; highlighting the anatomical features involved by the new techniques developed for OSB early detection. Preliminary results show that modern sonographic protocols are capable to detect abnormalities in the morphometry of the posterior brain. First trimester fourth ventricle abnormalities should be followed by careful CNS evaluation because are likely to appear in OSB affected fetuses, but also in other CNS severe anomalies; in such cases, normal BS and BSOB ratio may serve as indirect argument for spine integrity, if specificity is confirmed in large series of fetuses.

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

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

2014-11-01

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

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

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Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Etiology of adverse prenatal Outcome in overweight women

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Ameneh Safarzadeh

2016-09-01

Full Text Available To survey the etiology of adverse prenatal outcome in overweight. This comparative cohort study was conducted from 2010 to 2012. Total 440 gravid women 220were overweight and 220 normal weight pregnant women during at the first visit of pregnancy and third trimester were assessed. The risks for preterm labor, gestational hypertension, pre-eclampsia, gestational diabetes, caesarian section and Macrosomia were higher for those who were overweight at the third trimester of pregnancy (P < 0.05. Maternal BMI was associated with a higher risk for gestational hypertension, gestational diabetes, preterm labor, preeclampsia, caesarian section and fetal macrosomia (P< 0.05. This research demonstrates that maternal BMI was associated with increased risks for adverse pregnancy outcomes.

Individual and Area Level Factors Associated with Prenatal, Delivery, and Postnatal Care in Pakistan.

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Budhwani, Henna; Hearld, Kristine Ria; Harbison, Hanne

2015-10-01

This research examines individual and area level factors associated with maternal health care utilization in Pakistan. The 2012-2013 Pakistan Demographic and Health Surveys data was used to model five outcomes: prenatal care within the first trimester, four plus prenatal visits, birth attendance by a skilled attendant, birth in a medical facility, and receipt of postnatal care. Less than half of births were to mothers receiving prenatal care in the first trimester, and approximately 57 % had trained personnel at delivery. Over half were born to mothers who received postnatal care. Evidence was found to support the positive effect of individual level variables, education and wealth, on the utilization of maternal health care across all five measures. Although, this study did not find unilateral differences between women residing in rural and urban settings, rural women were found to have lower odds of utilizing prenatal services as compared to mothers in urban environments. Additionally, women who cited distance as a barrier, had lower odds of receiving postnatal health care, but still engaged in prenatal services and often had a skilled attendant present at delivery. The odds of utilizing prenatal care increased when women resided in an area where prenatal utilization was high, and this variability was found across measures across provinces. The results found in this paper highlight the uneven progress made around improving prenatal, delivery, and postnatal care in Pakistan; disparities persist which may be attributed to factors both at the individual and community level, but may be addressed through a consorted effort to change national policy around women's health which should include the promotion of evidence based interventions such as incentivizing health care workers, promoting girls' education, and improving transportation options for pregnant women and recent mothers with the intent of ultimately lowering the Maternal Mortality Rate as recommended in the U

Prenatal diagnosis of Neu-Laxova syndrome: a case report

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Polat Ibrahim

2002-02-01

Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision-making process of pregnant couples.

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Lou, Stina; Carstensen, Kathrine; Petersen, Olav Bjørn; Nielsen, Camilla Palmhøj; Hvidman, Lone; Lanther, Maja Retpen; Vogel, Ida

2018-05-23

In Denmark, first trimester screening has a very high uptake (>90%). If Down syndrome is diagnosed, termination rates are high (>95%). The aim of this study was to investigate the timing of the decision to terminate pregnancy following a diagnosis of Down syndrome and the factors influencing this decision. Semi-structured, qualitative interview study with 21 couples who had received a prenatal diagnosis of Down syndrome and decided to terminate the pregnancy. Participants were recruited from obstetric departments between February 2016 and July 2017. Data were analyzed using thematic analysis. Five themes were identified: "initial decision-making", "consolidating the decision", "reasons and concerns shaping the termination of pregnancy decision", "the right decision is also burdensome", and "perceived influences in decision-making". For most couples, the initial decision to terminate pregnancy was made before or during the diagnostic process, but it was re-addressed and consolidated following the actual diagnosis. Imagining a family future with a severely affected Down syndrome child was the main factor influencing the termination of pregnancy decision. The decision was articulated as "right" but also as existentially burdensome for some, due to fear of regret and concern about ending a potential life. The decision to terminate pregnancy was considered a private matter between the couple, but was refined through interactions with clinicians and social networks. All couples made an initial decision prior to receiving the Down syndrome diagnosis. Knowledge of the couple's initial decision may facilitate patient-centered communication during and after the diagnostic process. Couples may benefit from counseling to deal with grief and existential concerns. © 2018 Nordic Federation of Societies of Obstetrics and Gynecology.

Radioimmunoassays in prenatal genetic diagnosis

International Nuclear Information System (INIS)

Santavy, J.; Janouskova, M.; Fingerova, H.; Krikal, Z.

1981-01-01

Prenatal medicine strives to reveal hereditary disorders and congenital malformations before delivery. The application of RIA significantly widened the spectrum of available diagnostic possibilities. We first focused our attention on determining alpha-1-fetoprotein in the amniotic fluid and the serum. We used the results of 33 examinations of the amniotic fluid and 100 samples of the blood serum to compile a graph of physiological values during pregnancy. The graph is used in assessing clinical samples in suspect congenital disorders of neural tube closure and other malformations. In the last two years we have tested testosterone determination in the amniotic fluid to ascertain prenatally the fetal sex in early pregnancy. The results were satisfactory and agreed in 70.6%. (author)

Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol.

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Iliescu, D; Tudorache, S; Comanescu, A; Antsaklis, P; Cotarcea, S; Novac, L; Cernea, N; Antsaklis, A

2013-09-01

To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment. This was a prospective two-center 2-year study of 5472 consecutive unselected pregnant women examined at 12 to 13 + 6 gestational weeks. Women were examined using an extended morphogenetic ultrasound protocol that, in addition to the basic evaluation, involved a color Doppler cardiac sweep and identification of early contingent markers for major abnormalities. The prevalence of lethal and severe malformations was 1.39%. The first-trimester scan identified 40.6% of the cases detected overall and 76.3% of major structural defects. The first-trimester detection rate (DR) for major congenital heart disease (either isolated or associated with extracardiac abnormalities) was 90% and that for major central nervous system anomalies was 69.5%. In fetuses with increased nuchal translucency (NT), the first-trimester DR for major anomalies was 96%, and in fetuses with normal NT it was 66.7%. Most (67.1%) cases with major abnormalities presented with normal NT. A detailed first-trimester anomaly scan using an extended protocol is an efficient screening method to detect major fetal structural abnormalities in low-risk pregnancies. It is feasible at 12 to 13 + 6 weeks with ultrasound equipment and personnel already used for routine first-trimester screening. Rate of detection of severe malformations is greater in early- than in mid-pregnancy and on postnatal evaluation. Early heart investigation could be improved by an extended protocol involving use of color Doppler. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

The correlation of prenatal zinc concentration and deficiency with anthropometric factors.

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Parichehr Hanachi

2014-03-01

Full Text Available To determine the status of serum zinc in pregnant women in different gestational ages and correlation with socio-demographic and anthropometric factors in Iranian women referring to prenatal care public health clinics.We analyzed the zinc concentrations in plasma samples obtained at different gestational ages from 961 women and recorded BMI at the first trimester in pregnant women who were screened for a trial designed to evaluate the zinc concentration. Subjects were from different socio economical backgrounds and attended public health clinics for their prenatal care. All analyses were performed by SPSS (version 16. P values < 0.05 were considered significant.The results showed that after plasma zinc concentrations were adjusted with Parity, weight (early pregnancy, BMI (at early pregnancy, age and educational statues. Plasma zinc deficiency declined as gestational age progressed, however it was not significant. There was no significant correlation between zinc concentration, anthropometric, method of contraception and socio factors. However, there were significant relation between parity (p = 0.007 and weight at early pregnancy (p= 0.039 with serum zinc levels.We conclude that plasma zinc concentrations decreased during the late first trimester to the early third trimester and with parity. These findings may indicate that the deficient levels of zinc in the latter third of pregnancy suggest a tendency for insufficient maternal nutrition. However larger studies are required to support this finding.

Intrauterine adhesions as a risk factor for failed first-trimester pregnancy termination.

Science.gov (United States)

Luk, Janelle; Allen, Rebecca H; Schantz-Dunn, Julianna; Goldberg, Alisa B

2007-10-01

Risk factors for failed first-trimester surgical abortion include endometrial distortion caused by leiomyomas, uterine anomalies and malposition and cervical stenosis. This report introduces intrauterine adhesions as an additional risk factor. A multiparous woman presented for pregnancy termination at 6 weeks' gestation. Three suction-curettage attempts failed to remove what appeared to be an intrauterine pregnancy. Rising beta-hCG levels and concern for an interstitial ectopic pregnancy prompted a diagnostic laparoscopy and exploratory laparotomy without the identification of an ectopic pregnancy. After methotrexate treatment failed, the patient underwent ultrasound-guided hysteroscopy and suction curettage using a cannula with a whistle-cut aperture for the successful removal of a pregnancy implanted behind intrauterine adhesions. Intrauterine adhesions are a cause of failed surgical abortion. Ultrasound-guided hysteroscopy may be required for diagnosis.

Maternal first-trimester diet and childhood bone mass: the Generation R Study.

Science.gov (United States)

Heppe, Denise H M; Medina-Gomez, Carolina; Hofman, Albert; Franco, Oscar H; Rivadeneira, Fernando; Jaddoe, Vincent W V

2013-07-01

Maternal diet during pregnancy has been suggested to influence bone health in later life. We assessed the association of maternal first-trimester dietary intake during pregnancy with childhood bone mass. In a prospective cohort study in 2819 mothers and their children, we measured first-trimester daily energy, protein, fat, carbohydrate, calcium, phosphorus, and magnesium intakes by using a food-frequency questionnaire and homocysteine, folate, and vitamin B-12 concentrations in venous blood. We measured childhood total body bone mass by using dual-energy X-ray absorptiometry at the median age of 6.0 y. Higher first-trimester maternal protein, calcium, and phosphorus intakes and vitamin B-12 concentrations were associated with higher childhood bone mass, whereas carbohydrate intake and homocysteine concentrations were associated with lower childhood bone mass (all P-trend childhood bone mass. In the fully adjusted regression model that included all dietary factors significantly associated with childhood bone mass, maternal phosphorus intake and homocysteine concentrations most-strongly predicted childhood bone mineral content (BMC) [β = 2.8 (95% CI: 1.1, 4.5) and β = -1.8 (95% CI: -3.6, 0.1) g per SD increase, respectively], whereas maternal protein intake and vitamin B-12 concentrations most strongly predicted BMC adjusted for bone area [β = 2.1 (95% CI: 0.7, 3.5) and β = 1.8 (95% CI: 0.4, 3.2) g per SD increase, respectively]. Maternal first-trimester dietary factors are associated with childhood bone mass, suggesting that fetal nutritional exposures may permanently influence bone development.

First-Trimester Working Conditions and Birthweight: A Prospective Cohort Study

NARCIS (Netherlands)

Vrijkotte, Tanja G. M.; van der Wal, Marcel F.; van Eijsden, Manon; Bonsel, Gouke J.

2009-01-01

Objectives. We investigated the relationship between women's first-trimester working conditions and infant birthweight. Methods. Pregnant women (N=8266) participating in the Amsterdam Born Children and Their Development study completed a questionnaire gathering information on employment and working

Gender impact on first trimester markers in Down syndrome screening

DEFF Research Database (Denmark)

Larsen, Severin Olesen; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

2002-01-01

The influence of fetal gender on the level in the first trimester of the serological markers alpha-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (betahCG) and on nuchal translucency is described for 2637 singleton pregnancies with nor......The influence of fetal gender on the level in the first trimester of the serological markers alpha-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (betahCG) and on nuchal translucency is described for 2637 singleton pregnancies...... with normal outcome. Mean log MoM values for pregnancies with female and male fetuses were calculated using regression of log marker values on gestational age expressed as crown rump length and on maternal weight. A pronounced gender impact was found for free betahCG, being 16% higher for female than for male...

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

International Nuclear Information System (INIS)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun

2003-01-01

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review

Prenatal sonographic diagnosis of focal musculoskeletal anomalies

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung-Kyu; Cho, Jeong-Yeon; Choi, Jong-Sun [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

2003-12-15

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies, lsolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including total limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Regional apparent diffusion coefficient values in 3rd trimester fetal brain

International Nuclear Information System (INIS)

Hoffmann, Chen; Weisz, Boaz; Lipitz, Shlomo; Katorza, Eldad; Yaniv, Gal; Bergman, Dafi; Biegon, Anat

2014-01-01

Apparent diffusion coefficient (ADC) values in the developing fetus can be used in the diagnosis and prognosis of prenatal brain pathologies. To this end, we measured regional ADC in a relatively large cohort of normal fetal brains in utero. Diffusion-weighted imaging (DWI) was performed in 48 non-sedated 3rd trimester fetuses with normal structural MR imaging results. ADC was measured in white matter (frontal, parietal, temporal, and occipital lobes), basal ganglia, thalamus, pons, and cerebellum. Regional ADC values were compared by one-way ANOVA with gestational age as covariate. Regression analysis was used to examine gestational age-related changes in regional ADC. Four other cases of CMV infection were also examined. Median gestational age was 32 weeks (range, 26-33 weeks). There was a highly significant effect of region on ADC, whereby ADC values were highest in white matter, with significantly lower values in basal ganglia and cerebellum and the lowest values in thalamus and pons. ADC did not significantly change with gestational age in any of the regions tested. In the four cases with fetal CMV infection, ADC value was associated with a global decrease. ADC values in normal fetal brain are relatively stable during the third trimester, show consistent regional variation, and can make an important contribution to the early diagnosis and possibly prognosis of fetal brain pathologies. (orig.)

Regional apparent diffusion coefficient values in 3rd trimester fetal brain

Energy Technology Data Exchange (ETDEWEB)

Hoffmann, Chen [Tel Aviv University, Department of Radiology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Sheba Medical Center, Diagnostic Imaging, 52621, Tel Hashomer (Israel); Weisz, Boaz; Lipitz, Shlomo; Katorza, Eldad [Tel Aviv University, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Yaniv, Gal; Bergman, Dafi [Tel Aviv University, Department of Radiology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Biegon, Anat [Stony Brook University School of Medicine, Department of Neurology, Stony Brook, NY (United States)

2014-07-15

Apparent diffusion coefficient (ADC) values in the developing fetus can be used in the diagnosis and prognosis of prenatal brain pathologies. To this end, we measured regional ADC in a relatively large cohort of normal fetal brains in utero. Diffusion-weighted imaging (DWI) was performed in 48 non-sedated 3rd trimester fetuses with normal structural MR imaging results. ADC was measured in white matter (frontal, parietal, temporal, and occipital lobes), basal ganglia, thalamus, pons, and cerebellum. Regional ADC values were compared by one-way ANOVA with gestational age as covariate. Regression analysis was used to examine gestational age-related changes in regional ADC. Four other cases of CMV infection were also examined. Median gestational age was 32 weeks (range, 26-33 weeks). There was a highly significant effect of region on ADC, whereby ADC values were highest in white matter, with significantly lower values in basal ganglia and cerebellum and the lowest values in thalamus and pons. ADC did not significantly change with gestational age in any of the regions tested. In the four cases with fetal CMV infection, ADC value was associated with a global decrease. ADC values in normal fetal brain are relatively stable during the third trimester, show consistent regional variation, and can make an important contribution to the early diagnosis and possibly prognosis of fetal brain pathologies. (orig.)

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

Science.gov (United States)

Rossi, A Cristina; Prefumo, Federico

2017-03-01

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

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. Copyright © 2012 Wiley Periodicals, Inc.

Placenta Increta after First-Trimester Dilatation and Curettage Manifesting as an Unusual Uterine Mass: Magnetic Resonance Findings

Energy Technology Data Exchange (ETDEWEB)

Ju, W.; Kim, S.C. [Dept. of Obstetrics and Gynecology, and Medical Research Inst., School of Medicine, Ewha Womens Univ., Seoul (Korea)

2007-10-15

Placenta increta during the first trimester of pregnancy is extremely rare. Only a few cases of placenta accreta during the latter half of pregnancy manifesting as a uterine mass have been published. This report describes a case of placenta increta that caused prolonged bleeding after a first-trimester abortion, and was identified by magnetic resonance imaging (MRI) as a heterogeneous mass in the myometrium. This is the first report of a placenta increta detected as a uterine mass after first-trimester dilatation and curettage, and its MRI findings.

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.

First-Trimester Exposure to Methylphenidate

DEFF Research Database (Denmark)

Pottegård, Anton; Hallas, Jesper; Andersen, Jon T

2014-01-01

conducted this study to estimate the risk of major congenital malformations following first-trimester in utero exposure to methylphenidate. METHOD: Data from 2005 to 2012 were extracted from the Danish National Patient Register, the Danish National Prescription Registry, the Medical Birth Registry...... subjects with respect to maternal age, smoking status, body mass index, length of education, calendar year of completion of pregnancy, and concomitant use of antipsychotics, antidepressants, anxiolytics, and nonsteroidal anti-inflammatory drugs. RESULTS: We included 222 exposed and 2,220 unexposed...... pregnancies in the analysis. There was no statistically significant increase in major malformations (point prevalence ratio = 0.8; 95% CI, 0.3-1.8) or cardiac malformations (point prevalence ratio = 0.9; 95% CI, 0.2-3.0). Sensitivity analyses using different definitions of exposure or previous users...

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

Science.gov (United States)

Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

2018-02-13

The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

DEFF Research Database (Denmark)

Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

2016-01-01

and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0.......92-1.35). The corresponding data for duloxetine were 668 infants and 16 major malformations, resulting in a relative risk estimate and 95% confidence interval of 0.80 (0.46-1.29). First-trimester in utero exposure to venlafaxine is not associated with an increased risk of major congenital malformations. The amount of data...

Attitudes of Mothers towards Their Child with Down Syndrome before and after the Introduction of Prenatal Diagnosis

Science.gov (United States)

Lenhard, Wolfgang; Breitenbach, Erwin; Ebert, Harald; Schindelhauer-Deutscher, H. Joachim; Zang, Klaus D.; Henn, Wolfram

2007-01-01

In 1970, before the introduction of prenatal diagnosis of chromosome anomalies, an unpublished questionnaire study concerning the social and emotional situation of mothers of children with Down syndrome was conducted in southern Germany. To assess the psychosocial impact of the availability of prenatal diagnosis on parents of genetically…

Relationship between first trimester aneuploidy screening test serum analytes and placenta accreta.

Science.gov (United States)

Büke, Barış; Akkaya, Hatice; Demir, Sibel; Sağol, Sermet; Şimşek, Deniz; Başol, Güneş; Barutçuoğlu, Burcu

2018-01-01

The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fβhCG) MoM values and placenta accreta in women who had placenta previa. A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta. As probable markers of excessive placental invasion, serum PAPP-A and fβhCG MoM values were compared in two groups with and without placenta accreta. Patients with placenta accreta had higher statistically significant serum PAPP-A (1.20 versus 0.865, respectively, p = 0.045) and fβhCG MoM (1.42 versus 0.93, respectively, p = 0.042) values than patients without accreta. Higher first trimester serum PAPP-A and fβhCG MoM values seem to be associated with placenta accreta in women with placenta previa. Further studies are needed to use these promising additional tools for early detection of placenta accreta.

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

Science.gov (United States)

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana

2017-01-01

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

Medical management of first trimester miscarriage according to ultrasonographic findings

DEFF Research Database (Denmark)

Vejborg, Thomas; Nilas, Lisbeth; Rørbye, Christina

2007-01-01

BACKGROUND: The efficacy of medical treatment of first trimester miscarriages may depend on the regimen used, the definition of success, clinical symptoms, and, possibly, on the ultrasonographic findings. Our primary aim was to assess if a single dose of misoprostol could reduce the number of sur...... of pregnancy failure, time of assessment, and the criteria for success.......BACKGROUND: The efficacy of medical treatment of first trimester miscarriages may depend on the regimen used, the definition of success, clinical symptoms, and, possibly, on the ultrasonographic findings. Our primary aim was to assess if a single dose of misoprostol could reduce the number...... ultrasonography after either 1, 2 or 3 days. Treatment was successful if a complete abortion was diagnosed at follow-up. The women were divided into 4 ultrasonographically-defined groups: missed abortion with a crown rump length (CRL)>or=6 mm (Group A1) or CRL

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.

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.

Science.gov (United States)

Sepulveda, W; Be, C; Youlton, R; Carstens, E; Reyes, M

2001-09-01

In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three fetuses had an unbalanced translocation and all were associated with increased nuchal translucency and multiple anomalies at the detailed second-trimester scan. There were no survivors in this group. The remaining four fetuses had a balanced translocation; all had normal nuchal translucency thickness and no structural anomalies were detected in the second trimester. Three of these fetuses were born at > or =35 weeks of gestation and were phenotypically normal. However, an unexpected single fetal demise occurred in a dichorionic twin pregnancy at 28 weeks of gestation. It is concluded that nuchal translucency measurements provide important prognostic information on pregnancy outcome in first-trimester fetuses with a chromosome translocation. In parents with a known balanced translocation, the detection of increased nuchal translucency at 11-14 weeks of gestation is associated with unbalanced translocations, structural anomalies and poor pregnancy outcome. Copyright 2001 John Wiley & Sons, Ltd.

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

Directory of Open Access Journals (Sweden)

Morris Fiddler

2014-09-01

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

Prenatal diagnosis of congenital ranula: Case Report

Directory of Open Access Journals (Sweden)

Aytül Çorbacıoğlu Esmer

2013-12-01

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

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.

Prenatal diagnosis and prevention of toxoplasmosis in pregnant women in Northern Vietnam: study protocol.

Science.gov (United States)

Smit, G Suzanne A; Vu, Thi Lam Binh; Do, Trung Dung; Speybroeck, Niko; Devleesschauwer, Brecht; Padalko, Elizaveta; Roets, Ellen; Dorny, Pierre

2017-05-25

In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis. The protocol was developed in a way that it could potentially evolve into a countrywide prenatal diagnosis and prevention program, with the main focus on primary prevention. The collaborating gynaecologists will invite eligible pregnant women attending antenatal care for the first time to participate in the study. At first consult, information about toxoplasmosis and its prevention will be provided. All participants will be asked to fill in a questionnaire, which is designed to analyse socio-demographic and biologically plausible risk factors associated with toxoplasmosis, and blood samples will be collected to determine the seroprevalence of toxoplasmosis in pregnant women. In case there is suspicion of a primary infection during pregnancy, the concerned women will be followed-up by the gynaecologists according to a predefined protocol. Every participant will be informed on her serological status, risk factors and prevention measures and is offered appropriate medical information and medical follow-up if required. The hypothesis is that congenital toxoplasmosis is an important but currently under-diagnosed public health problem in Vietnam. This study can strengthen sustainable control of toxoplasmosis in Vietnam, provide a protocol for prenatal diagnosis, boost overall awareness, improve the knowledge about toxoplasmosis prevention and can be essential for evidence-based health policy.

[First trimester screening for Down syndrome at Prima facie. A 6-year survey].

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Roth, P; Bernard, J-P; Meyer, V; Beaujard, M-P; Salomon, L-J; Ville, Y

2016-02-01

To evaluate the results of screening for trisomy 21 by the combined risk of first trimester (as defined by the decree of June 23, 2009) in the Prima facie structure. Single center study involving all patients that were seen for first trimester screening at Prima facie with singleton living pregnancy, not obtained by embryo donation, between 1 January 2009 and 31 December 2014. Eighteen thousand two hundred and fifty-one patients were included, of which underwent screening for trisomy 21 by the combined risk. One thousand and forty-six (6.1%) had a calculated risk higher than 1/250. Seventy-five were affected by trisomy 21, of whom 65 in the high risk group. The sensitivity and specificity of screening are 86.7% and 94.4%. The median nuchal translucency was 0.98 MoM. Screening for trisomy 21 by calculating the combined risk of first trimester enabled to detect 86.7% of trisomy 21 with a false positive rate of 5.6%. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

Science.gov (United States)

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

2012-12-01

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

Placenta Percreta in First Trimester after Multiple Rounds of Failed Medical Management for a Missed Abortion

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Jaimin Shah

2017-01-01

Full Text Available Background. The detection of a morbidly adherent placenta (MAP in the first trimester is rare. Risk factors such as multiparity, advanced maternal age, prior cesarean delivery, prior myomectomy, placenta previa, or previous uterine evacuation place patients at a higher risk for having abnormal placental implantation. If these patients have a first trimester missed abortion and fail medical management, it is important that providers have a heightened suspicion for a MAP. Case. A 24-year-old G4P3003 with 3 prior cesarean deliveries underwent multiple rounds of failed medical management for a missed abortion. She had a dilation and curettage that was complicated by a significant hemorrhage and ultimately required an urgent hysterectomy. Conclusion. When patients fail medical management for a missed abortion, providers need to assess the patient’s risk factors for a MAP. If risk factors are present, a series of specific evaluations should be triggered to rule out a MAP and help further guide management. Early diagnosis of a MAP allows providers to coordinate a multidisciplinary treatment approach and thoroughly counsel patients. Ensuring adequate resources and personnel at a tertiary hospital is essential to provide the highest quality of care and improve outcomes.

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

DEFF Research Database (Denmark)

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

2016-01-01

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

Prenatal Screening Using Maternal Markers

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Howard Cuckle

2014-05-01

Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development

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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

Basic heart examination: feasibility study of first-trimester systematic simplified fetal echocardiography.

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Quarello, E; Lafouge, A; Fries, N; Salomon, L J

2017-02-01

First-trimester fetal cardiac screening examinations in low-risk populations should not have to meet the specifications required for high-risk populations. Our aim was to evaluate a simplified fetal echocardiographic ('basic heart') examination for early detection of severe congenital heart defects in a low-risk population. This was a first-trimester national 'flash study', performed over a 2-week period. Each observer was requested to perform simplified echocardiography without modifying the time and methods deemed necessary for the routine first-trimester ultrasound examination, in fetuses with crown-rump length between 45 and 84 mm. This basic heart assessment used targeted cross-sections of the four-chamber view (4CV) and of the three vessels and trachea (3VT) view, using color and/or directional power Doppler. All examinations were then reviewed offline and scored for quality by a qualified expert. Sixty observers performed a total of 597 first-trimester ultrasound examinations, each performing an average of 10 (range, 1-26) procedures. Examinations were conducted transabdominally (79%; 472/597), transvaginally (3%; 17/597) or both (18%; 108/597). In 8% (45/597) of cases, the fetal back was anterior, in 18% (108/597) it was on the left side, in 63% (377/597) it was posterior and in 11% (67/597) it was on the right side. It became clear during scoring by the expert that, unlike the Herman quality score for nuchal translucency measurement, it was difficult to assess the quality of these images without taking into account normality of the heart itself. Analysis of scores showed that the 4CV was obtained successfully and was deemed normal in 86% (512/597) of the patients, in 7% (41/597) it was deemed technically infeasible and in 7% (44/597) it was deemed feasible but atypical, which may have been due to the presence of an abnormality or to poor quality of the image. The 3VT view was obtained successfully and was normal in 79% (472/597) of the patients, in 13

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

NARCIS (Netherlands)

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

2013-01-01

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

Prenatal diagnosis of homozygous β-thalassemia

International Nuclear Information System (INIS)

Loukopoulos, D.

1980-11-01

An in vitro test for the prenatal diagnosis of homozygous β-thalassaemia and its application is described. The basic methodology consists in obtaining a minute specimen of placental blood by blind aspiration or foetoscopy at the 18th to 20th week of gestation, incubating a sample in the presence of 3 H-leucine, separating the labelled globin chains by chromatography on sodium carboxymethyl cellulose microcolumns with 8M urea-mercaptoethanol and measuring the radioactivity associated with the β- and γ-chains. The β/(pre-γ+γ) radioactivity ratio is used as an index of adequacy of β-chain synthesis, a value greater than 0.07 being taken as indicative of freedom from disease and a value less than 0.03 indicative of homozygous β-thalassaemia. From 350 women seeking the test, 344 samples were tested; 269 were judged normal or heterozygous, 75 homozygous for β-thalassaemia. Four false negatives were identified, 3 having given borderline β/(pre-γ+γ) ratios. Complications leading to foetal loss fell from 16% over the first year's experience to 8% over the second and 5% over the third. The test is now judged suitable for general use and is indeed being so used

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

Science.gov (United States)

Harðardóttir, H

2001-05-01

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

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

NARCIS (Netherlands)

M.G.F. van Lier (Margot); S.E. Korsse (Susanne); E.M.H. Mathus-Vliegen (Elisabeth); E.J. Kuipers (Ernst); A.M.W. van den Ouweland (Ans); K. Vanheusden (Kathleen); M.E. van Leerdam (Monique); A. Wagner (Anja)

2012-01-01

textabstractPeutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

NARCIS (Netherlands)

van Lier, Margot G. F.; Korsse, Susanne E.; Mathus-Vliegen, Elisabeth M. H.; Kuipers, Ernst J.; van den Ouweland, Ans M. W.; Vanheusden, Kathleen; van Leerdam, Monique E.; Wagner, Anja

2012-01-01

Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy

First trimester biochemistry in pregnancies conceived using assisted reproduction techniques

DEFF Research Database (Denmark)

Tabor, Ann; Ekelund, Charlotte; Nørgaard, Pernille

Objective: To examine the effects of method of conception on first trimester PAPP-A and free beta-hCG and the dependency of gestational age at the time of sampling on these effects Methods: Data on more than 100 000 spontaneously conceived and on 6 859 pregnancies conceived by assisted reproducti...

Adiposity and hyperleptinemia during the first trimester among pregnant women with preeclampsia

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Yeboah FA

2017-06-01

Full Text Available Francis Agyemang Yeboah,1 Robert Amadu Ngala,1 Ahmed Tijani Bawah,2 Henry Asare-Anane,3 Huseini Alidu,2 Abdul-Wahab Mawuko Hamid,2 Joshua Dokurugu Kwame Wumbee4 1Department of Molecular Medicine, Kwame Nkrumah University of Science and Technology, Kumasi, 2Department of Medical Laboratory Science, University of Health and Allied Sciences, Ho, 3Department of Chemical Pathology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra, 4Internal Quality Control Unit, Quality Control Directorate, Kumasi Technical University, Kumasi, Ghana Background: Leptin levels start increasing from the early stages of pregnancy, irrespective of the maternal body mass index. Leptin levels are increased in pregnant women with preeclampsia (PE and may precede the clinical onset of the disease, with peaks occurring around 28 weeks of gestation. This study was aimed at determining whether serum leptin concentration and body fat percentage are significantly altered during the first trimester in pregnancies that subsequently develop PE and whether such changes are useful in predicting the disease.Materials and methods: This was a prospective longitudinal study conducted among pregnant women in Ho municipality. A cohort of 314 pregnant women was monitored from the first antenatal visit to delivery period at the Volta Regional Hospital, Ho, Ghana. Maternal serum leptin and lipid profile were analyzed and body fat percentage determined during first trimester. Body mass index was also calculated.Results: First trimester serum leptin level (P<0.0001 and body fat percentage (P<0.0001 were significantly higher in those who developed PE than those who did not; while triglycerides (P=0.8600, total cholesterol (P=0.5620, high-density lipoprotein (P=0.5880, low-density lipoprotein (P=0.4870 and very low-density lipoprotein (P=0.6540 did not show any significant difference between those with PE and those without PE.Conclusion: Leptin levels are increased

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

International Nuclear Information System (INIS)

Garel, Catherine; Dhouib, Amira; Sileo, Chiara; Ducou le Pointe, Hubert; Cormier-Daire, Valerie

2014-01-01

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.)

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.)

Prenatal Diagnosis of Dextrotransposition of the Great Arteries

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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.

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

Spontaneous first trimester miscarriage rates per woman among parous women with 1 or more pregnancies of 24 weeks or more.

Science.gov (United States)

Cohain, Judy Slome; Buxbaum, Rina E; Mankuta, David

2017-12-22

The purpose of this study was to quantify spontaneous first trimester miscarriage rates per woman among parous women. A vast amount of data has accumulated regarding miscarriage rates per recognized pregnancy as well as about recurrent miscarriage. This is the second study of miscarriage rates per woman in a parous population and the first study of recurrent and non-recurrent, spontaneous first trimester miscarriage rates per woman in a large parous population. Extraction of the following variables from all delivery room admissions from both Hadassah Medical Centers in Jerusalem Israel, 2004-2014: # of first trimester spontaneous miscarriages, # live births; # living children; age on admission, pre-pregnancy height and weight, any smoking this pregnancy, any alcohol or drug abuse this pregnancy, blood type, history of ectopic pregnancy, history of cesarean surgery (CS) and use of any fertility treatment(s). Among 53,479 different women admitted to labor and delivery ward, 43% of women reported having had 1 or more first trimester spontaneous miscarriages; 27% reported having had one, 10% two, 4% three, 1.3% four, 0.6% five and 0.05% reported having 6-16 spontaneous first trimester miscarriages. 18.5% had one or more first trimester miscarriages before their first live birth. Eighty-one percent of women with 11 or more living children experienced one or more first trimester miscarriages. First trimester miscarriage rates rose with increasing age, increasing parity, after previous ectopic pregnancy, after previous cesarean surgery, with any smoking during pregnancy and pre-pregnancy BMI ≥30. Miscarriages are common among parous women; 43% of parous women report having experienced one or more first trimester spontaneous miscarriages, rising to 81% among women with 11 or more living children. One in every 17 parous women have three or more miscarriages. Depending on her health, nutrition and lifestyle choices, even a 39 year old parous woman with a history of 3 or

Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects.

Science.gov (United States)

Pei, Lijun; Zhu, Huiping; Ye, Rongwei; Wu, Jilei; Liu, Jianmeng; Ren, Aiguo; Li, Zhiwen; Zheng, Xiaoying

2015-01-01

Many studies have indicated that the reduced folate carrier gene (SLC19A1) is associated with an increased risk of neural tube defects (NTDs). However, the interaction between the SLC19A1 gene variant and maternal fever exposure and NTD risk remains unknown. The aim of this study was to investigate whether the risk for NTDs was influenced by the interactions between the SLC19A1 (rs1051266) variant and maternal first trimester fever. We investigated the potential interaction between maternal first trimester fever and maternal or offspring SLC19A1 polymorphism through a population-based case-control study. One hundred and four nuclear families with NTDs and 100 control families with nonmal newborns were included in the study. SLC19A1 polymorphism was determined using polymerase chain reaction-restricted fragment length polymorphism. Mothers who had the GG/GA genotype and first trimester fever had an elevated risk of NTDs (adjusted odds ratio, 11.73; 95% confidence interval, 3.02-45.58) as compared to absence of maternal first trimester fever and AA genotype after adjusting for maternal education, paternal education, and age, and had a significant interactive coefficient (γ = 3.17) between maternal GG/GA genotype and first trimester fever. However, there was no interaction between offspring's GG/GA genotype and maternal first trimester fever (the interactive coefficient γ = 0.97) after adjusting for confounding factors. Our findings suggested that the risk of NTDs was potentially influenced by a gene-environment interaction between maternal SLC19A1 rs1051266 GG/GA genotype and first trimester fever. Maternal GG/GA genotype may strengthen the effect of maternal fever exposure on NTD risk in this Chinese population. © 2014 Wiley Periodicals, Inc.

Medical First-Trimester Termination of Pregnancy with Massive Fibroid Uterus

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Michael Saad-Naguib

2017-01-01

Full Text Available First-trimester termination of pregnancy by medical or surgical route is highly effective with a low complication rate. Uterine abnormalities can complicate a procedure due to distortion of normal anatomy. In this case presentation, medical termination of pregnancy is performed using fetal intracardiac potassium chloride injection and intramuscular methotrexate.

Induced first-trimester abortion and risk of mental disorder.

Science.gov (United States)

Munk-Olsen, Trine; Laursen, Thomas Munk; Pedersen, Carsten B; Lidegaard, Øjvind; Mortensen, Preben Bo

2011-01-27

Concern has been expressed about potential harm to women's mental health in association with having an induced abortion, but it remains unclear whether induced abortion is associated with an increased risk of subsequent psychiatric problems. We conducted a population-based cohort study that involved linking information from the Danish Civil Registration system to the Danish Psychiatric Central Register and the Danish National Register of Patients. The information consisted of data for girls and women with no record of mental disorders during the 1995-2007 period who had a first-trimester induced abortion or a first childbirth during that period. We estimated the rates of first-time psychiatric contact (an inpatient admission or outpatient visit) for any type of mental disorder within the 12 months after the abortion or childbirth as compared with the 9-month period preceding the event. The incidence rates of first psychiatric contact per 1000 person-years among girls and women who had a first abortion were 14.6 (95% confidence interval [CI], 13.7 to 15.6) before abortion and 15.2 (95% CI, 14.4 to 16.1) after abortion. The corresponding rates among girls and women who had a first childbirth were 3.9 (95% CI, 3.7 to 4.2) before delivery and 6.7 (95% CI, 6.4 to 7.0) post partum. The relative risk of a psychiatric contact did not differ significantly after abortion as compared with before abortion (P = 0.19) but did increase after childbirth as compared with before childbirth (P abortion does not support the hypothesis that there is an increased risk of mental disorders after a first-trimester induced abortion.

Right aortic arch with aberrant left subclavian artery—prenatal diagnosis and evaluation of postnatal outcomes: Report of three cases

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Kuei-Cheng Hsu

2011-09-01

Conclusion: The 3VT view in routine prenatal ultrasound examination is important and essential for the prenatal diagnosis of an RAA with an aberrant LSCA. Moreover, 3D-PDU is able to provide a more clear-cut cardiovascular structure, which helps with the diagnosis.

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

Science.gov (United States)

Löwy, Ilana

2014-09-01

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

PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

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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

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

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

1997-09-01

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

Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.

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Webb, Sara Jane; Garrison, Michelle M; Bernier, Raphael; McClintic, Abbi M; King, Bryan H; Mourad, Pierre D

2017-03-01

Current research suggests that incidence and heterogeneity of autism spectrum disorder (ASD) symptoms may arise through a variety of exogenous and/or endogenous factors. While subject to routine clinical practice and generally considered safe, there exists speculation, though no human data, that diagnostic ultrasound may also contribute to ASD severity, supported by experimental evidence that exposure to ultrasound early in gestation could perturb brain development and alter behavior. Here we explored a modified triple hit hypothesis [Williams & Casanova, ] to assay for a possible relationship between the severity of ASD symptoms and (1) ultrasound exposure (2) during the first trimester of pregnancy in fetuses with a (3) genetic predisposition to ASD. We did so using retrospective analysis of data from the SSC (Simon's Simplex Collection) autism genetic repository funded by the Simons Foundation Autism Research Initiative. We found that male children with ASD, copy number variations (CNVs), and exposure to first trimester ultrasound had significantly decreased non-verbal IQ and increased repetitive behaviors relative to male children with ASD, with CNVs, and no ultrasound. These data suggest that heterogeneity in ASD symptoms may result, at least in part, from exposure to diagnostic ultrasound during early prenatal development of children with specific genetic vulnerabilities. These results also add weight to on-going concerns expressed by the FDA about non-medical use of diagnostic ultrasound during pregnancy. Autism Res 2017, 10: 472-484. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Prenatal diagnosis of left pulmonary artery-to-pulmonary vein fistula and its successful surgical repair in a neonate.

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Ostras, Oleksii; Kurkevych, Andrii; Bohuta, Lyubomyr; Yalynska, Tetyana; Raad, Tammo; Lewin, Mark; Yemets, Illya

2015-04-01

Pulmonary arteriovenous fistula is a rare disease. To the best of our knowledge, prenatal diagnosis of a fistula between the left pulmonary artery and the left pulmonary vein has not been described in the medical literature. We report a case of the prenatal diagnosis of a left pulmonary artery-to-pulmonary vein fistula, followed by successful neonatal surgical repair.

High-resolution melting analysis for prenatal diagnosis of beta-thalassemia in northern Thailand.

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Charoenkwan, Pimlak; Sirichotiyakul, Supatra; Phusua, Arunee; Suanta, Sudjai; Fanhchaksai, Kanda; Sae-Tung, Rattika; Sanguansermsri, Torpong

2017-12-01

High-resolution melting (HRM) analysis is a rapid mutation analysis which assesses the pattern of reduction of fluorescence signal after subjecting the amplified PCR product with saturated fluorescence dye to an increasing temperature. We used HRM analysis for prenatal diagnosis of beta-thalassemia disease in northern Thailand. Five PCR-HRM protocols were used to detect point mutations in five different segments of the beta-globin gene, and one protocol to detect the 3.4 kb beta-globin deletion. We sought to characterize the mutations in carriers and to enable prenatal diagnosis in 126 couples at risk of having a fetus with beta-thalassemia disease. The protocols identified 18 common mutations causing beta-thalassemia, including the rare codon 132 (A-T) mutation. Each mutation showed a specific HRM pattern and all results were in concordance with those from direct DNA sequencing or gap-PCR methods. In cases of beta-thalassemia disease resulting from homozygosity for a mutation or compound heterozygosity for two mutations on the same amplified segment, the HRM patterns were different to those of a single mutation and were specific for each combination. HRM analysis is a simple and useful method for mutation identification in beta-thalassemia carriers and prenatal diagnosis of beta-thalassemia in northern Thailand.

First-time first-trimester induced abortion and risk of readmission to a psychiatric hospital in women with a history of treated mental disorder.

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Munk-Olsen, Trine; Laursen, Thomas Munk; Pedersen, Carsten B; Lidegaard, Ojvind; Mortensen, Preben Bo

2012-02-01

Mental health problems are associated with women's reproductive decisions and predict poor mental health outcomes after abortion and childbirth. To study whether having a first-trimester induced abortion influenced the risk of psychiatric readmission and compare findings with readmission risk in women with mental disorders giving birth. Survival analyses were performed in a population-based cohort study merging data from the Danish Civil Registration System, the Danish Psychiatric Central Register, and the Danish National Hospital Register from January 1,1994, to December 31, 2007. Denmark. All women born in Denmark between 1962 and 1992 with a record of 1 or more psychiatric admissions at least 9 months before a first-time first-trimester induced abortion or childbirth. Main Outcome Measure  Readmission at a psychiatric hospital with any type of mental disorder from 9 months before to 12 months after a first-time first-trimester induced abortion or childbirth. Relative risk (RR) for readmission risk 9 to 0 months before a first-trimester induced abortion was 0.95 (95% CI, 0.73-1.23) compared with the first year after the abortion. This contrasts with a reduced risk of readmission before childbirth (RR, 0.56; 95% CI, 0.42-0.75) compared with the first year post partum. Proximity to previous psychiatric admission in particular predicted rehospitalization risks in both the abortion and the childbirth group. Risk of readmission is similar before and after first-time first-trimester abortion, contrasting with a marked increased in risk of readmission post partum. We speculate that recent psychiatric episodes may influence women's decisions to have an induced abortion; however, this decision does not appear to influence the illness course in women with a history of treated mental disorders.

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

International Nuclear Information System (INIS)

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

2015-01-01

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. 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. Prospective study in a tertiary care setup. 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. 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. 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. Both USG and MRI have fairly good sensitivity for prenatal diagnosis of placenta accreta; however, specificity does not appear to be as good as reported in other studies. Both modalities have complimentary

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

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Rachid, Myriam; Dreux, Sophie; Pean de Ponfilly, Gauthier; Vargas-Poussou, Rosa; Czerkiewicz, Isabelle; Chevenne, Didier; Oury, Jean-François; Deschênes, Georges; Muller, Françoise

2017-04-01

Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age. Two controls groups were defined: controls with polyhydramnios (n=72) and control without polyhydramnios (n=72). Amniotic fluid aldosterone was compared between the three groups. The median amniotic fluid aldosterone concentration in the Bartter syndrome group (90 pg/mL) did not differ significantly from that in the controls with polyhydramnios (90 pg/mL, p=0.33) or the controls without polyhydramnios (87 pg/mL, p=0.41). In conclusion, amniotic fluid aldosterone assay cannot be used for prenatal diagnosis of Bartter syndrome.

First-trimester maternal protein intake and childhood kidney outcomes: the Generation R Study.

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Miliku, Kozeta; Voortman, Trudy; van den Hooven, Edith H; Hofman, Albert; Franco, Oscar H; Jaddoe, Vincent W V

2015-07-01

Nutritional exposures during in utero development may have long-lasting consequences for postnatal renal health. Animal studies suggest that specifically maternal dietary protein intake during pregnancy influences childhood kidney function. We examined the associations of total, animal, and vegetable maternal protein intake during pregnancy with kidney volume and function in school-aged children. This study was conducted in 3650 pregnant women and their children who were participating in a population-based cohort study from early life onward. First-trimester energy-adjusted maternal protein intake was assessed with a food-frequency questionnaire. At the child's age of 6 y, we assessed kidney volume, estimated glomerular filtration rate (eGFR) using serum creatinine and cystatin C concentrations, and microalbuminuria using urine albumin:creatinine ratios. First-trimester maternal total protein intake was associated with a higher childhood creatinine-based eGFR (difference: 0.06 mL × min(-1) × 1.73 m(-2); 95% CI: 0.01, 0.12 mL · min(-1) · 1.73 m(-2) per gram of protein intake). This association was mainly driven by vegetable protein intake (0.22 mL × min(-1) × 1.73 m(-2); 95% CI: 0.10, 0.35 mL · min(-1) · 1.73 m(-2) per gram of vegetable protein intake). These associations were not explained by protein intake in early childhood. First-trimester maternal protein intake was not significantly associated with childhood kidney volume, cystatin C-based eGFR, or the risk of microalbuminuria. Our findings suggest that higher total and vegetable, but not animal, maternal protein intake during the first trimester of pregnancy is associated with a higher eGFR in childhood. Further follow-up studies are needed to investigate whether maternal protein intake in early pregnancy also affects the risk of kidney diseases in later life. © 2015 American Society for Nutrition.

Prenatal Diagnosis of Sirenomelia

OpenAIRE

Aykut Özek; Mert Turğal; Özgür Özyüncü; Sinan Beksaç

2016-01-01

Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis.

Is MSAFP still a useful test for detecting open neural tube defects and ventral wall defects in the era of first-trimester and early second-trimester fetal anatomical ultrasounds?

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Roman, Ashley S; Gupta, Simi; Fox, Nathan S; Saltzman, Daniel; Klauser, Chad K; Rebarber, Andrei

2015-01-01

To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol. © 2014 S. Karger AG, Basel.

Pattern of prenatal care utilization in Tehran: A population based longitudinal study.

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Kolahi, Ali-Asghar; Abbasi-Kangevari, Mohsen; Abdollahi, Morteza; Ehdaeivand, Farnaz; Arshi, Shahnam

2017-09-28

To assess the pattern of prenatal care utilization in Tehran in 2015. A total of 2005 pregnant women who lived in the catchment area of the study participated. Participants were followed from the sixth week of pregnancy until birth. Data were collected either through interviews or from written medical records. More than 95% of mothers completed all eight prenatal care visits. Some 99% of mothers completed at least four visits. The prenatal care utilization was equal among all different socio-economic regions in Tehran. Gynecologists were the main healthcare providers in prenatal care visits. In addition, 75% of mothers went to gynecologists at their office or in hospitals for ordering first-trimester screening tests. Prenatal care utilization complied with both national guidelines and recommendations of World Health Organization regarding the number of conducted visits. Equal accessibility and availability of prenatal care service despite the socio-economical differences of families is suggestive of equity and social justice in terms of providing health services in both public and private sectors. Among healthcare providers, gynecologists were the main healthcare provider for prenatal care visits. Copyright © 2017 Australian College of Midwives. Published by Elsevier Ltd. All rights reserved.

Consumerism in prenatal diagnosis? A local Italian study.

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Bellieni, C V; Maffei, M; Brogna, A; Plantulli, A; Cervo, E; Reda, M; Signorini, L; Buonocore, G; Petraglia, F

2008-01-01

To assess the causes of excessive use of prenatal diagnosis. 304 questionnaires were completed anonymously by puerperae in a Siena (Italy) hospital in May-August 2006. The questionnaires contained 24 questions about the women, examinations performed during pregnancy and the reasons for them. The mean number of ultrasound examinations per woman was 6.5 +/- 2.5. Forty-two percent of the women in our sample (29.3% of women under 35 and 68.9% of women over 35 years of age) reported that amniocentesis/CVS had been performed; the mean age of these women was 34.1 +/- 4.5 years. Eighty-five percent of the women under 36 years of age who had amniocentesis declared that it was performed as a personal choice and 15% for the presence of risk factors. Among 131 women who performed amniocentesis, 32 performed it with a normal blood screening for Down syndrome (DS), and 76 declared to have performed no blood screening for DS. Only 45% of women stated that they thought age above 35 years was a risk factor for pregnancy, but most of them (75%) were aware that amniocentesis was performed to detect chromosomal anomalies. In 89% of the cases a source of information about prenatal testing was the woman's gynecologist. This study shows that the high use of prenatal examinations is often not justified by the presence of clinical risk factors and that both national health system and caregivers should find new strategies to inform women about the aims of prenatal tests, and promote a more serene approach to pregnancy. A broader study is needed to confirm these data. Copyright 2008 S. Karger AG, Basel.

Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting

DEFF Research Database (Denmark)

Miltoft, Caroline Borregaard; Rode, Line; Ekelund, Charlotte Kvist

2017-01-01

OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral...... to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015. First trimester combined screening was based on maternal...... these there were 15 cases of Trisomy 21, one case of Trisomy 18 and two cases of Trisomy 13. The sensitivity for Trisomy 21 was 100% using both screening scenarios, while specificity increased significantly from 97.0% to 98.8% (p contingent approach. The sensitivity for Trisomy 21, 18 and 13...

Noninvasive prenatal testing: the future is now.

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Norwitz, Errol R; Levy, Brynn

2013-01-01

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

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

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

2017-08-28

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

Validation of second trimester miscarriages and spontaneous deliveries

DEFF Research Database (Denmark)

Sundtoft, Iben Blaabjerg; Sneider, Kirstine; Christiansen, Ole Bjarne

2015-01-01

OBJECTIVE: To validate the diagnosis of second trimester miscarriages/deliveries (16+0 weeks to 27+6 weeks of gestation) recorded as miscarriages in the Danish National Patient Registry or spontaneous deliveries in the Danish Medical Birth Registry, and asses the validity of risk factors, pregnancy...... information and calculated positive predictive values of the registry diagnoses stratified by type of registry, as well as sensitivity, specificity, positive predictive value, and kappa coefficients of risk factors, pregnancy complications, and cerclage. RESULTS: Miscarriage/spontaneous delivery in the second......-based information on pregnancy complications need to be improved. We recommend that all pregnancies ending spontaneously beyond the first trimester are included in the national birth registry and described by appropriate variables....

Prenatal Diagnosis of Sirenomelia

Directory of Open Access Journals (Sweden)

Aykut Özek

2016-05-01

Full Text Available Sirenomelia is a rare and lethal congenital malformation. It is associated with a variety of anomalies and oligo/anhydramniosis. We present a case of sirenomelia detected in early second trimester presenting with anhydramniosis.

Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate: A Cohort Study.

Directory of Open Access Journals (Sweden)

Ida Näslund Thagaard

Full Text Available To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates.A cohort study of 8,551 singleton pregnancies with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL, biparietal diameter (1st trimester, BPD (2nd trimester, and head circumference and compared mean and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods.The change from use of second to first trimester measurements for dating was associated with a significant increase in the rate of post-term deliveries from 2.1-2.9% and a significant decrease in the rate of pre-term deliveries from 5.4-4.6% caused by systematic discrepancies. Thereby 25.1% would pass 41 weeks when GA is defined by CRL and 17.3% when BPD (2nd trimester is used. Calibration for these discrepancies resulted in a lower post-term birth rate, from 3.1-1.4%, when first compared to second trimester dating was used.Systematic discrepancies were identified when biometric formulas were used to determine duration of pregnancy. This should be corrected in clinical practice to avoid an overestimation of post-term birth and unnecessary inductions when first trimester formulas are used.

Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate: A Cohort Study.

Science.gov (United States)

Näslund Thagaard, Ida; Krebs, Lone; Lausten-Thomsen, Ulrik; Olesen Larsen, Severin; Holm, Jens-Christian; Christiansen, Michael; Larsen, Torben

2016-01-01

To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates. A cohort study of 8,551 singleton pregnancies with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL), biparietal diameter (1st trimester), BPD (2nd trimester), and head circumference and compared mean and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods. The change from use of second to first trimester measurements for dating was associated with a significant increase in the rate of post-term deliveries from 2.1-2.9% and a significant decrease in the rate of pre-term deliveries from 5.4-4.6% caused by systematic discrepancies. Thereby 25.1% would pass 41 weeks when GA is defined by CRL and 17.3% when BPD (2nd trimester) is used. Calibration for these discrepancies resulted in a lower post-term birth rate, from 3.1-1.4%, when first compared to second trimester dating was used. Systematic discrepancies were identified when biometric formulas were used to determine duration of pregnancy. This should be corrected in clinical practice to avoid an overestimation of post-term birth and unnecessary inductions when first trimester formulas are used.

Serum chemerin level during the first trimester of pregnancy and the risk of gestational diabetes mellitus.

Science.gov (United States)

Yang, Xuezhou; Quan, Xiaozhen; Lan, Yanli; Ye, Jinhai; Wei, Qipeng; Yin, Xiaofang; Fan, Fangfang; Xing, Hui

2017-10-01

To investigate the association between chemerin level in the first trimester of pregnancy and the risk of gestational diabetes mellitus. The blood samples of 212 women at 8-12 weeks of gestation were collected. After screening for gestational diabetes mellitus (GDM), 19 women with GDM and 20 women randomly selected from 144 women with normal glucose tolerance (NGT) were included in the study. Blood samples were collected from these women. Triglycerides, glucose, total cholesterol, and HDL cholesterol, LDL cholesterol, insulin and chemerin were measured. Gestational weight gain and body mass index was assessed. Serum levels of chemerin were significantly elevated during late gestation, and the risk of GDM was positively associated with maternal serum chemerin in the first trimester. Serum chemerin level during the first trimester of pregnancy has the potential to predict risk of GDM.

Emotional and cognitive experiences during the time of diagnosis and decision-making following a prenatal diagnosis: a qualitative study of males presented with congenital heart defect in the fetus carried by their pregnant partner.

Science.gov (United States)

Carlsson, Tommy; Mattsson, Elisabet

2018-01-12

Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner. Twelve expectant fathers were consecutively recruited through two tertiary referral centers for fetal cardiology in Sweden, after they had been presented with a prenatal diagnosis of congenital heart defect in the fetus carried by their pregnant partner. The respondents were interviewed via telephone, and the interviews were analyzed using inductive qualitative content analysis. The respondents experienced an intense emotional shock in connection with detection. However, they set their own needs aside to attend to the supportive needs of their pregnant partner, and stressed the importance of an informed joint decision regarding whether to continue or terminate the pregnancy. When terminating the pregnancy, they experienced a loss of a wanted child, an emotionally intense termination procedure, needs of support neglected by professionals, and worries about the risk of recurrence in future pregnancies. When continuing the pregnancy, they tried to keep a positive attitude about the coming birth, but were simultaneously worried about the postnatal situation. The findings illustrate the importance of inclusive care and adequate follow-up routines for both expectant parents following a prenatal diagnosis. This includes the initial emotional shock, the decisional process, and depending on decision reached, the termination or continuation of the pregnancy. Expectant fathers presented with a fetal anomaly need adequate follow-up routines to address worries about risk of recurrence

Early prenatal diagnosis of ischiopagus conjoined twins

Directory of Open Access Journals (Sweden)

Ahmet Mete Ergenoğlu

2014-03-01

Full Text Available Introduction: Conjoined twins are very rare and the incidence of them vary about 1/50,000 and 1/100,000. They are named according to the joint parts. Embryos are conjoined at the level of ischium in ischiopagus. A case of ischiopagus will be presented in this article. Case: A twenty-seven year old women who is 9-10 weeks pregnant with a history of 1 abortus applied to the Ege University Department of Obstetrics and Gynecology for routine follow-up. Ultrasonography revealed a twin pregnancy but the embryos were attached at the pelvic region. 3D Doppler sonography confirmed the diagnosis of ischiopagus tetrapus. The patient's decision of termination of pregnancy is concluded at Perinatology Council of the clinic. Conclusion: Ischiopagus conjoined twins are very rare. Early prenatal diagnosis will prevent the maternal complications during the termination of the pregnancy.

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.

Comparison of placental three-dimensional power Doppler indices and volume in the first and second trimesters of pregnancy complicated by gestational diabetes mellitus.

Science.gov (United States)

Wong, Chian-Huey; Chen, Chie-Pein; Sun, Fang-Ju; Chen, Chen-Yu

2018-05-01

To compare the changes of placental three-dimensional power Doppler indices and volume in the first and second trimesters of pregnancy with gestational diabetes mellitus (GDM). This was a prospective case-control study of singleton pregnancies with risk factors for GDM. Data on placental vascular indices including vascularization index (VI), flow index (FI), and vascularization flow index (VFI), as well as placental volume were obtained and analyzed during the first and second trimesters between pregnant women with and without GDM. Of the 155 pregnant women enrolled, 31 developed GDM and 124 did not. VI and VFI were significantly lower in the GDM group during the first and second trimesters (VI: p = 0.023, and VFI: p = 0.014 in the first trimester; VI: p = 0.049, and VFI: p = 0.031 in the second trimester). However, the placental volume was similar in both groups during the first trimester, while it was significantly increased in the GDM group during the second trimester (p = 0.022). There were no significant differences in FI and uterine artery pulsatility index between the two groups. After adjustments in multivariate logistic regression analysis, significant differences were observed in the first trimester VFI (adjusted odds ratio (OR) 0.76, 95% confidence interval (CI) 0.61-0.93), second trimester VFI (adjusted or 0.83, 95% CI 0.71-0.96), and second trimester placental volume (adjusted or 1.03, 95% CI 1.01-1.05). Placental vascular indices can provide an insight into placental vascularization in GDM during early pregnancy. VFI rather than placental volume may be a sensitive sonographic marker in the first trimester of GDM placentas.

Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate

DEFF Research Database (Denmark)

Thagaard, Ida Näslund; Krebs, Lone; Lausten-Thomsen, Ulrik

2016-01-01

OBJECTIVES: To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates. METHODS: A cohort study of 8,551 singleton pregnancies...... with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL), biparietal diameter (1st trimester), BPD (2nd trimester), and head circumference and compared mean...... and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods. RESULTS: The change from use of second to first...

Combined first- and second-trimester screening for Down syndrome

DEFF Research Database (Denmark)

Rode, Line; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

2003-01-01

and their correlations, derived from our normal material and Down syndrome cases from the literature. RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP......%. CONCLUSION: These results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A....

The Relations Between Maternal Prenatal Anxiety or Stress and Child's Early Negative Reactivity or Self-Regulation: A Systematic Review.

Science.gov (United States)

Korja, Riikka; Nolvi, Saara; Grant, Kerry Ann; McMahon, Cathy

2017-12-01

In the present review, we examine the association between maternal prenatal stress or anxiety and children's early negative reactivity or self-regulation. The review includes 32 studies that focus on pregnancy-related anxiety, state or trait anxiety, perceived stress, and stressful life events in relation to child's crying, temperament, or behavior during the first 2 years of life. We searched four electronic databases and 32 studies were selected based on the inclusion criteria. Twenty-three studies found an association between maternal prenatal anxiety or stress and a child's negative reactivity or self-regulation, and typically the effect sizes varied from low to moderate. The association was found regardless of the form of prenatal stress or anxiety and the trimester in which the prenatal stress or anxiety was measured. In conclusion, several forms of prenatal anxiety and stress may increase the risk of emotional and self-regulatory difficulties during the first 2 years of life.

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Science.gov (United States)

Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

2014-12-01

To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

First trimester serum levels of the soluble transcobalamin receptor, holo-transcobalamin, and total transcobalamin in relation to preeclampsia risk

DEFF Research Database (Denmark)

Abuyaman, Omar; Torring, Niels; Obeid, Rima

2016-01-01

transcobalamin (TC) with the risk of subsequent preeclampsia using serum samples from asymptomatic first trimester pregnant women. Moreover, we aimed to establish reference intervals of the aforementioned biomarkers for first trimester pregnant women who remained healthy throughout pregnancy. STUDY DESIGN...... preeclampsia while the controls remained normotensive throughout pregnancy. We measured the serum concentration of sCD320, holoTC, and total TC by using in-house ELISA methods. RESULTS: First trimester median concentrations of sCD320, holoTC and total TC were not significantly different between cases...... and controls. The odd ratio for developing preeclampsia based on exposure to low or high levels of sCD320, holoTC or total TC at first trimester was not significant. The reference intervals (2.5-97.5% percentiles (median)) derived from the controls were 50-170 (90) pmol\\L for sCD320, 20-140 (70) pmol...

Lupus anticoagulant, disease activity and low complement in the first trimester are predictive of pregnancy loss.

Science.gov (United States)

Mankee, Anil; Petri, Michelle; Magder, Laurence S

2015-01-01

Multiple factors, including proteinuria, antiphospholipid syndrome, thrombocytopenia and hypertension, are predictive of pregnancy loss in systemic lupus erythematosus (SLE). In the PROMISSE study of predictors of pregnancy loss, only a battery of lupus anticoagulant tests was predictive of a composite of adverse pregnancy outcomes. We examined the predictive value of one baseline lupus anticoagulant test (dilute Russell viper venom time) with pregnancy loss in women with SLE. From the Hopkins Lupus Cohort, there were 202 pregnancies from 175 different women after excluding twin pregnancies and pregnancies for which we did not have a first trimester assessment of lupus anticoagulant. We determined the percentage of women who had a pregnancy loss in groups defined by potential risk factors. The lupus anticoagulant was determined by dilute Russell viper venom time with appropriate mixing and confirmatory testing. Generalised estimating equations were used to calculate p values, accounting for repeated pregnancies in the same woman. The age at pregnancy was 40 (3%). 55% were Caucasian and 34% African-American. Among those with lupus anticoagulant during the first trimester, 6/16 (38%) experienced a pregnancy loss compared with only 16/186 (9%) of other pregnancies (p=0.003). In addition, those with low complement or higher disease activity had a higher rate of pregnancy loss than those without (p=0.049 and 0.005, respectively). In contrast, there was no association between elevated anticardiolipin in the first trimester and pregnancy loss. The strongest predictor of pregnancy loss in SLE in the first trimester is the lupus anticoagulant. In addition, moderate disease activity by the physician global assessment and low complement measured in the first trimester were predictive of pregnancy loss. These data suggest that treatment of the lupus anticoagulant could be considered, even in the absence of history of pregnancy loss.

First Trimester Down's syndrome screening - pregnant women's knowledge

DEFF Research Database (Denmark)

Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

2011-01-01

OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

First trimester Down's syndrome screening - pregnant women's knowledge

DEFF Research Database (Denmark)

Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

2011-01-01

OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

Woman's body symmetry and oxidative stress in the first trimester of pregnancy.

Science.gov (United States)

Żelaźniewicz, Agnieszka; Nowak, Judyta; Pawłowski, Bogusław

2015-01-01

High level of oxidative stress (OS) during the first weeks of pregnancy is related to many serious pregnancy complications. Previous studies showed that body fluctuating asymmetry (FA) is related to OS level in men, suggesting that FA is a marker of oxidative balance in an individual. The aim of this study was to analyze if body FA was related to the level of biomarkers of OS in the first trimester of pregnancy. The sample included 34 women in the first trimester of pregnancy, not smoking, and not exposed to toxins in their work environment. The composite FA and levels of two biomarkers of OS, 8-iso-ProstaglandinF2α (an indicator of oxidative damage to lipids) and 8-OH-dG (an indicator of oxidative damage to DNA) were measured. Factors that may affect the level of OS (vitamin supplementation, age, smoking, alcohol drinking, physical activity, and health condition) were controlled. The levels of OS markers in the first trimester of pregnancy correlated positively with women's FA (r = 0.52, P = 0.002 for 8-OH-dG; r = 0.50; P = 0.003 for 8-iso-PGF2α level) and positively with body height (r = 0.37, P = 0.03 for 8-OH-dG level). The level of OS is likely to be a substantial and important fitness trait, and FA may convey information on the level of OS in women. The result confirms that FA is an indicator of biological condition, as suggested by an evolutionary approach to morphological human traits perceived as attractive. © 2015 Wiley Periodicals, Inc.

Prenatal diagnosis in Sweden: organisation and current issues.

Science.gov (United States)

Bui, T H; Kristoffersson, U

1997-01-01

Invasive prenatal diagnosis was introduced in Sweden in the early 1970s and is an integral part of the public health care system. Funding is provided by taxation; the patient only pays a consultation fee. Genetic analyses on a broad range of cytogenetic and molecular disorders are performed at the 6 university-affiliated hospitals and in 1 county hospital. About 6% of all newborns have been cytogenetically screened during pregnancy, and about 90% of the analyses are performed after amniocentesis. The main indication is chromosome analysis because of advanced maternal age.

Maternal first-trimester diet and childhood bone mass: The Generation R Study

NARCIS (Netherlands)

D.H.M. Heppe (Denise); M.C. Medina-Gomez (Carolina); A. Hofman (Albert); O.H. Franco (Oscar); F. Rivadeneira Ramirez (Fernando); V.W.V. Jaddoe (Vincent)

2013-01-01

textabstractBackground: Maternal diet during pregnancy has been suggested to influence bone health in later life. Objective: We assessed the association of maternal first-trimester dietary intake during pregnancy with childhood bone mass. Design: In a prospective cohort study in 2819 mothers and

Low PAPP-A in the first trimester is associated with reduced fetal growth rate prior to gestational week 20

DEFF Research Database (Denmark)

Salvig, J D; Kirkegaard, I; Winding, Trine Nøhr

2010-01-01

To evaluate the association between maternal pregnancy-associated plasma protein-A (PAPP-A) and fetal growth from the first to the second trimester.......To evaluate the association between maternal pregnancy-associated plasma protein-A (PAPP-A) and fetal growth from the first to the second trimester....

First-trimester multimarker prediction of gestational diabetes mellitus using targeted mass spectrometry

DEFF Research Database (Denmark)

Ravnsborg, Tina; Andersen, Lise Lotte T; Trabjerg, Natacha D.

2016-01-01

–control study was performed on first-trimester serum samples from 199 GDM cases and 208 controls, each divided into an obese group (BMI ≥27 kg/m2) and a non-obese group (BMI 2). Based on their biological relevance to GDM or type 2 diabetes mellitus or on their previously reported potential as biomarkers......Aims/hypothesis: Gestational diabetes mellitus (GDM) is associated with an increased risk of pre-eclampsia, macrosomia and the future development of type 2 diabetes mellitus in both mother and child. Although an early and accurate prediction of GDM is needed to allow intervention and improve...... perinatal outcome, no single protein biomarker has yet proven useful for this purpose. In the present study, we hypothesised that multimarker panels of serum proteins can improve first-trimester prediction of GDM among obese and non-obese women compared with single markers. Methods: A nested case...

Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation.

Science.gov (United States)

Gekas, Jean; Gagné, Geneviève; Bujold, Emmanuel; Douillard, Daniel; Forest, Jean-Claude; Reinharz, Daniel; Rousseau, François

2009-02-13

To assess and compare the cost effectiveness of three different strategies for prenatal screening for Down's syndrome (integrated test, sequential screening, and contingent screenings) and to determine the most useful cut-off values for risk. Computer simulations to study integrated, sequential, and contingent screening strategies with various cut-offs leading to 19 potential screening algorithms. The computer simulation was populated with data from the Serum Urine and Ultrasound Screening Study (SURUSS), real unit costs for healthcare interventions, and a population of 110 948 pregnancies from the province of Québec for the year 2001. Cost effectiveness ratios, incremental cost effectiveness ratios, and screening options' outcomes. The contingent screening strategy dominated all other screening options: it had the best cost effectiveness ratio ($C26,833 per case of Down's syndrome) with fewer procedure related euploid miscarriages and unnecessary terminations (respectively, 6 and 16 per 100,000 pregnancies). It also outperformed serum screening at the second trimester. In terms of the incremental cost effectiveness ratio, contingent screening was still dominant: compared with screening based on maternal age alone, the savings were $C30,963 per additional birth with Down's syndrome averted. Contingent screening was the only screening strategy that offered early reassurance to the majority of women (77.81%) in first trimester and minimised costs by limiting retesting during the second trimester (21.05%). For the contingent and sequential screening strategies, the choice of cut-off value for risk in the first trimester test significantly affected the cost effectiveness ratios (respectively, from $C26,833 to $C37,260 and from $C35,215 to $C45,314 per case of Down's syndrome), the number of procedure related euploid miscarriages (from 6 to 46 and from 6 to 45 per 100,000 pregnancies), and the number of unnecessary terminations (from 16 to 26 and from 16 to 25 per 100

Characteristics of first-trimester screening of non-responders in a high-uptake population

DEFF Research Database (Denmark)

Wolf, Hanne Trap; Wulff, Camilla Bernt; Ekelund, Charlotte

2016-01-01

INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non-participation......INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non...... with the following factors: country of origin other than Denmark (p ... of a conscious choice based on ethical considerations, rather than being the result of a lack of information. However, a low response rate decreases the strength of our conclusions. FUNDING: none. TRIAL REGISTRATION: not relevant....

Correlation between pre-pregnancy body mass index and maternal visceral adiposity with fetal biometry during the second trimester.

Science.gov (United States)

Lopes, Karina R M; Souza, Alex Sandro R; Figueiroa, José N; Alves, João Guilherme B

2017-08-01

To determine the correlation between pre-pregnancy body mass index (BMI) and maternal visceral adiposity with fetal biometry during the second trimester. A cross-sectional observational study was conducted among pregnant women who received prenatal care at a center in Recife, Brazil, between October 3, 2011, and September 27, 2013. Pre-pregnancy BMI was determined at the first prenatal care visit. Maternal visceral adiposity and fetal biometry were measured at the same ultrasonography session. The associations between maternal and fetal variables were evaluated using the Pearson correlation coefficient (R). The Student t test was used to test the null hypothesis of adjusted correlation coefficients. Overall, 740 women were included. No correlation was found between pre-pregnancy BMI and any of the fetal biometric variables assessed. By contrast, maternal visceral adiposity positively correlated with fetal abdominal circumference (R=0.529), estimated fetal weight (R=0.524), head circumference (R=0.521), femur length (R=0.521), and biparietal diameter (R=0.524; Ppregnancy length. Maternal visceral adiposity, but not pre-pregnancy BMI, positively correlated with fetal biometry during the second trimester. © 2017 International Federation of Gynecology and Obstetrics.

Diagnosis of Fetal Anomaly and the Increased Maternal Psychological Toll Associated with Pregnancy Termination.

Science.gov (United States)

Coleman, Priscilla K

2015-01-01

Approximately 4% of U.S. abortions occur in desired pregnancies, with many resulting from fetal anomalies. The majority of terminations occur in the second trimester; however in recent years first-trimester ultrasound measurement for nuchal translucency, calculation of risk based on maternal age, and biochemistry at 11-14 weeks gestation, have resulted in earlier prenatal diagnoses for chromosomal abnormalities. First trimester ultrasound can also now lead to diagnoses of major structural abnormalities including anecephaly, ventral wall defects, and limb abnormalities. The American College of Medical Genetics released recommendations underscoring the crucial importance of ethical counseling and substantive communication with parents facing a prenatal diagnosis of fetal anomaly. Unfortunately, the inability of health care providers to understand and empathize with the ardent desire of some parents to refuse termination is likely to be a large factor in the common practice of professionals attempting to steer expectant parents toward termination. Perinatal hospice is family-centered, comprehensive, and integrative in nature. The care provided by perinatal hospice units is delivered by an interdisciplinary team of obstetricians, pediatricians, nurses, social workers and chaplains in 130 locations throughout the U.S. Support is offered from diagnosis until death and beyond with time for "bonding, loving, and losing." "Hospice care is an interactive, and at times intense, form of care. Rather than simply 'letting nature take its course,' this approach empowers the family to take control of some of the consequences of their unfortunate situation." A primary focus of perinatal hospice is on fear reduction. Parents facing the death of an infant often fear isolation and abandonment in addition to worrying about their child experiencing pain. Parents are assured that they will be cared for and supported throughout this entire chapter of their lives, as their babies are kept

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

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.

Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

Science.gov (United States)

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

2010-03-01

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

First-trimester screening markers are altered in pregnancies conceived after IVF/ICSI

DEFF Research Database (Denmark)

Gjerris, A C; Loft, A; Pinborg, A

2009-01-01

.0%). CONCLUSIONS: It seems advisable to use a population of IVF/ICSI pregnancies to establish median curves for the first-trimester serum screening parameters and perhaps also for nuchal translucency thickness. However, care must be taken, as different ART treatment methods and aspects of medical history seem...

[Prenatal supplementations of iron, iron-containing multimicronutrients and antianemic Chinese patent medicines in women in Shaanxi province, 2010-2013].

Science.gov (United States)

Liu, D M; Li, J M; Qu, P F; Dang, S N; Wu, X Y; Zhang, R; Yan, H; Yan, H

2017-11-10

Objective: To understand the prevalence of prenatal supplementations of iron, iron-containing multi-micronutrients (IMMN) and antianemic Chinese patent medicines (ACPM) and associated factors in women in Shaanxi province. Methods: A sample of 28 367 childbearing-age women who gave birth during 2010-2013 and had specific information of the prenatal nutrients supplementation were recruited using stratified multistage cluster random sampling in Shaanxi province. The information about their basic characteristics and prenatal supplementation of nutrients were collected by a questionnaire survey. Descriptive analysis method was used to analyze the intake rate of iron, IMMN and ACPM during each period of pregnancy, and logistic regression model was used to identify associated factors. Results: The overall prevalence of prenatal iron, IMMN and ACPM supplementation was low (28.99%), and the intake rate of iron was the lowest (5.33%). The prevalence of prenatal supplementation of iron, IMMN and ACPM were lower before pregnancy and in the first trimester than in the second and third trimester. The intake rates for consecutive 2 periods were very low (all were lower than 2.00%). The intake rates of iron, IMMN and ACPM significantly increased year by year. Women living in central Shaanxi had relatively high intake rates of iron (7.22%) and IMMN (16.55%), and women in southern Shaanxi had relatively high intake rate of ACPM (18.50%). The results of logistic regression analysis showed that higher educational level ( OR =1.920, 95 %CI : 1.617-2.279), antenatal care times≥6 ( OR =1.832, 95 %CI : 1.604-2.091), etc . were the positive factors for iron intake, and these positive factors were similar to those for IMMN intake. Additionally, rural residence was the negative factor for IMMN intake (compared with urban residence, OR =0.872, 95 %CI : 0.788-0.966). Conversely, higher educational level ( OR =0.855, 95 %CI : 0.746-0.979), higher household income ( OR =0.864, 95 %CI : 0

Psychological aspects of therapeutic abortion after early prenatal diagnosis.

Science.gov (United States)

Di Giusto, M; Lazzari, R; Giorgetti, T; Paesano, R; Pachi, A

1991-01-01

The early discovery of a fetal pathology creates a "crisis" situation fraught with psychic problems for the couple who must live through it. The Authors observed a group of patients in the second trimester of pregnancy. They had all requested therapeutic abortion since serious malformation of the fetus had been confirmed. By means of a questionnaire constructed for the purpose, certain characteristics of fetal malformation and of pregnancy were evidenced, as well as the way these were experienced by the patients. The immediate and delayed reactions to the diagnosis of malformation were also studied, as was the experience lived when faced with the choice of abortion.

On what grounds do women participate in prenatal screening?

DEFF Research Database (Denmark)

Santalahti, P; Aro, A R; Hemminki, E

1998-01-01

, and diagnostic tests and their risks. Knowledge was poorer among women without a high school education. When counselling women about prenatal screening tests, more emphasis should be given to the sensitivity of serum screening, all of its screening uses, and the possible diagnostic tests and their risks...... of a procedure. The aim of this study was to examine Finnish women's knowledge and perceptions of, and stated reasons to participate in, two prenatal screening tests: serum screening and mid-trimester ultrasound screening. Subjects (n=1035) for the serum screening survey were catered for in the maternity care...... centres of two Finnish towns, where serum screening is available for all pregnant women. After one reminder, 88 per cent returned the questionnaire. Subjects (n=497) for the mid-trimester ultrasound screening survey were catered for in the obstetrical and gynaecological outpatient clinic of the city...

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.

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

Science.gov (United States)

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

2016-11-01

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

Induced first-trimester abortion and risk of mental disorder

DEFF Research Database (Denmark)

Munk-Olsen, Trine; Laursen, Thomas Munk; Pedersen, Carsten B

2011-01-01

Background Concern has been expressed about potential harm to women's mental health in association with having an induced abortion, but it remains unclear whether induced abortion is associated with an increased risk of subsequent psychiatric problems. Methods We conducted a population-based cohort......-trimester induced abortion or a first childbirth during that period. We estimated the rates of first-time psychiatric contact (an inpatient admission or outpatient visit) for any type of mental disorder within the 12 months after the abortion or childbirth as compared with the 9-month period preceding the event....... Results The incidence rates of first psychiatric contact per 1000 person-years among girls and women who had a first abortion were 14.6 (95% confidence interval [CI], 13.7 to 15.6) before abortion and 15.2 (95% CI, 14.4 to 16.1) after abortion. The corresponding rates among girls and women who had a first...

Maternal Prenatal Positive Affect, Depressive and Anxiety Symptoms and Birth Outcomes: The PREDO Study.

Directory of Open Access Journals (Sweden)

Anu-Katriina Pesonen

Full Text Available We investigated whether maternal prenatal emotions are associated with gestational length and birth weight in the large PREDO Study with multiple measurement points of emotions during gestation.Altogether 3376 pregnant women self-assessed their positive affect (PA, Positive and Negative Affect Schedule and depressive (Center for Epidemiologic Studies Depression Scale, CES-D and anxiety (Spielberger State Anxiety Scale, STAI symptoms up to 14 times during gestation. Birth characteristics were derived from the National Birth Register and from medical records.One standard deviation (SD unit higher PA during the third pregnancy trimester was associated with a 0.05 SD unit longer gestational length, whereas one SD unit higher CES-D and STAI scores during the third trimester were associated with 0.04-0.05 SD unit shorter gestational lengths (P-values ≤ 0.02, corresponding to only 0.1-0.2% of the variation in gestational length. Higher PA during the third trimester was associated with a significantly decreased risk for preterm (< 37 weeks delivery (for each SD unit higher positive affect, odds ratio was 0.8-fold (P = 0.02. Mothers with preterm delivery showed a decline in PA and an increase in CES-D and STAI during eight weeks prior to delivery. Post-term birth (≥ 42 weeks, birth weight and fetal growth were not associated with maternal prenatal emotions.This study with 14 measurements of maternal emotions during pregnancy show modest effects of prenatal emotions during the third pregnancy trimester, particularly in the weeks close to delivery, on gestational length. From the clinical perspective, the effects were negligible. No associations were detected between prenatal emotions and birth weight.

Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

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Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

2016-02-01

This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

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Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

2017-02-01

Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion

DEFF Research Database (Denmark)

Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas

2005-01-01

Abstract Background The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. Methods A retrospective study of 833 consecutive patients admitted for medical termination of first......, gemeprost and vaginal misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects....

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

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

2010-01-01

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

Using knowledge management to improve learning experience of first-trimester students

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Nelson K. Y. Leung

2015-06-01

Full Text Available To address the lack of insights into the engagement of tertiary students to manage knowledge at a course level, a knowledge management approach is proposed to allow students to interact with lecturers inside and outside a large lecture hall to create, disseminate, use and evaluate knowledge. The proposed approach was applied to an undergraduate business computing related course conducted at the offshore campus of an Australian university in the third trimester of 2012. The proposed KM approach was evaluated using quantitative analysis. The findings show that the majority of the students agreed that the computerized tool (Facebook could enhance their learning experience by allowing students to ask for, share, discuss, and extend knowledge. In particular, the KM approach provided additional channels and platforms for the first-trimester students who were passive and preferred not to seek help from lecturers directly for cultural reasons.

Relationships among Constitution, Stress, and Discomfort in the First Trimester

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Hsiao-Ling Wang

2012-01-01

trimester of pregnancy. We adopted a descriptive and correlational research design and collected data from 261 pregnant women during their first trimester in southern Taiwan using structured questionnaires. Results showed that (1 stress was significantly and positively correlated with Yang-Xu, Yin-Xu, and Tan-Shi-Yu-Zhi constitutions, respectively; (2 Yin-Xu and Tan-Shi-Yu-Zhi constitutions had significant correlations with all symptoms of discomfort, while Yang-Xu had significant correlations with all symptoms of discomfort except for “running nose”; (3 Tan-Shi-Yu-Zhi constitution and stress were two indicators for “fatigue”; Tan-Shi-Yu-Zhi was the indicator for “nausea”; Yang-Xu and Yin-Xu were indicators for “frequent urination.” Our findings also indicate that stress level affects constitutional changes and that stress and constitutional change affect the incidence of discomfort. This research can help healthcare professionals observe these discomforts and provide individualized care for pregnant women, to nurture pregnant women into neutral-type constitution, minimize their levels of discomfort, and promote the health of the fetus and the mother.

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

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Jung, C; Sohn, C; Sergi, C

1998-04-01

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity.

First and second trimester maternal serum inhibin A levels in twins with pre-eclampsia.

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Svirsky, Ran; Maymon, Ron; Melcer, Yaakov; Klog, Esther; Cuckle, Howard

2016-11-01

To investigate maternal serum inhibin as a marker of pre-eclampsia (PE) in twins. One hundred forty-three twins and 109 unaffected singleton pregnancies were recruited in the first trimester from the same institution. Blood samples were stored at recruitment and in the second trimester, retrospectively tested for inhibin and values expressed in multiples of the gestation-specific median (MoMs) in singletons, adjusted for maternal weight, as appropriate. The median inhibin level in unaffected twins was 2.04 MoM compared with 1.00 MoM in singletons (P < 0.0001, Wilcoxon Rank Sum Test, one-tailed). Excluding early fetal losses the median in 22 samples from 12 twins with PE was 2.65 MoM compared with 1.99 MoM in 201 samples from 120 unaffected twins (P < 0.02, Wilcoxon Rank Sum Test). This effect was restricted to second trimester samples with medians in cases and controls of 2.86 and 1.91 MoM respectively. Logistic regression of inhibin A together with established PE marker placental growth factor and placental associated plasma protein showed that in the second trimester, it improved screening performance although not reaching statistical significance (P = 0.08). Inhibin A is a potential second trimester marker of PE in twins. It may improve on existing twin screening protocols but more data are required. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

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.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

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Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

2009-10-01

To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

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

Gastrosquise: Diagnóstico Pré-natal x Prognóstico Neonatal Gastroschisis: Prenatal Diagnosis x Neonatal Outcome

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Melania Maria Ramos de Amorim

2000-05-01

Full Text Available Objetivos: determinar a freqüência de diagnóstico pré-natal em recém-nascidos (RN com gastrosquise operados no Instituto Materno-Infantil de Pernambuco (IMIP e analisar suas repercussões sobre o prognóstico neonatal. Métodos: realizou-se um corte transversal retrospectivo incluindo 31 casos de gastrosquise submetidos a correção cirúrgica em nosso serviço entre 1995-1999. Calculou-se o risco de prevalência (RP de morte neonatal e seu intervalo de confiança a 95% para a presença de diagnóstico pré-natal e outras variáveis cirúrgicas e perinatais, realizando-se análise de regressão logística múltipla para determinação do risco ajustado de morte neonatal. Resultados: apenas 10 (32,3% dos 31 casos de gastrosquise tinham diagnóstico pré-natal e nasceram no IMIP. Nenhum RN com diagnóstico pré-natal foi prematuro, em contraste com 43% daqueles sem diagnóstico pré-natal (p 4 horas, cirurgia em estágios, necessidade de ventilação mecânica e infecção. Conclusões: o diagnóstico pré-natal foi infreqüente entre RN com gastrosquise e a morte neonatal foi extremamente alta em sua ausência. É necessário aumentar a freqüência de diagnóstico pré-natal e melhorar os cuidados perinatais para reduzir esta elevada mortalidade.Purpose: to determine the frequency of prenatal diagnosis in newborns with gastroschisis operated at the Instituto Materno-Infantil de Pernambuco (IMIP and to analyze its repercussions on neonatal prognosis. Patients and Methods: a cross-sectional study was carried out, including 31 cases of gastroschisis submitted to surgical correction in our service from 1995 to 1999. Prevalence risk (PR of neonatal death and its 95% confidence interval were calculated for the presence of prenatal diagnosis and other perinatal and surgical variables. Multiple logistic regression analysis was carried out to determine the adjusted risk of neonatal death. Results: only 10 of 31 cases of gastroschisis (32.3% had

Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives.

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Traeger-Synodinos, Joanne; Harteveld, Cornelis L

2017-03-01

Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of prenatal diagnosis, to minimize the incidence of new cases is recognized in many countries. Areas covered: The challenges associated with identifying carrier couples using hematology-based screening, along with DNA diagnosis and prenatal diagnosis were addressed, based on a literature search and the authors expertise. Expert commentary: The hemoglobinopathies are extremely heterogeneous at the haematological, molecular and clinical level, requiring appropriately equipped and staffed laboratories with experience to support comprehensive screening and diagnosis. However complete services with adequate infrastructure to address the associated technical challenges do not exist widely, especially in low-income countries that, coincidentally, are often those with the highest frequency of hemoglobinopathies in their population. Additionally, overcoming limited public awareness, education and absence of systematic dissemination of information also constitutes a challenge. This article aims to highlight these challenges and to evaluate potential future developments that may address at least some of them, focusing mainly on the technical challenges related to molecular diagnostics.

Prenatal diagnosis of homozygous familial hypercholesterolaemia

International Nuclear Information System (INIS)

Brown, M.S.; Kovanen, P.T.; Goldstein, J.L.; Eeckels, R.; Vandenberghe, K.; Van Den Berghe, H.; Fryns, J.P.; Cassiman, J.J.

1978-01-01

Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125 I-L.D.L. Functional consequences of L.D.L. binding to the receptor - i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification - were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life. (author)

Prenatal diagnosis of fetal hemivertebra at 20 weeks’ gestation with literature review

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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

Prenatal maternal cortisol concentrations predict neurodevelopment in middle childhood.

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Davis, Elysia Poggi; Head, Kevin; Buss, Claudia; Sandman, Curt A

2017-01-01

Glucocorticoids (cortisol in humans) are the end product of the hypothalamic-pituitary-adrenocortical (HPA) axis and are proposed as a key mechanism for programming fetal brain development. The present prospective longitudinal study evaluates the association between prenatal maternal cortisol concentrations and child neurodevelopment. Participants included a low risk sample of 91 mother-child pairs. Prenatal maternal plasma cortisol concentrations were measured at 19 and 31 gestational weeks. Brain development and cognitive functioning were assessed when children were 6-9 years of age. Structural magnetic resonance imaging scans were acquired and cortical thickness was determined. Child cognitive functioning was evaluated using standardized measures (Wechsler Intelligence Scale for Children IV and Expressive Vocabulary Test, Second Edition). Higher maternal cortisol concentrations during the third trimester were associated with greater child cortical thickness primarily in frontal regions. No significant associations were observed between prenatal maternal cortisol concentrations and child cortical thinning. Elevated third trimester maternal cortisol additionally was associated with enhanced child cognitive performance. Findings in this normative sample of typically developing children suggest that elevated maternal cortisol during late gestation exert lasting benefits for brain development and cognitive functioning 6-9 years later. The benefits of fetal exposure to higher maternal cortisol during the third trimester for child neurodevelopment are consistent with the role cortisol plays in maturation of the human fetus. It is plausible that more extreme elevations in maternal cortisol concentrations late in gestation, as well as exposure to pharmacological levels of synthetic glucocorticoids, may have neurotoxic effects on the developing fetal brain. Copyright © 2016. Published by Elsevier Ltd.

El diagnóstico prenatal de defectos cromosómicos en Costa Rica

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Isabel Castro Volio

2004-09-01

Full Text Available Esta es una breve reseña histórica del diagnóstico prenatal citogenético en Costa Rica. Se realiza únicamente en el Instituto de Investigaciones en Salud de la Universidad de Costa Rica desde el año 1984. Sirve a los hospitales de la seguridad social y a la medicina privada. Trabajamos con muestras de líquido amniótico y de sangre fetal enviadas por los perinatólogos, provenientes de embarazos de alto riesgo, ya sea por presentar alteraciones en el ultrasonograma, marcadores sonográficos de aneuploidía o edad materna avanzada, entre otras indicaciones menos frecuentes. El diagnóstico se realiza en el segundo y en el tercer trimestre de gestación. Como la interrupción del embarazo no es permitida, el personal médico y la familia se prepara con tiempo para recibir de la mejor manera al neonato afectado. En los casos de cariotipo normal, esta información alivia la preocupación de los padres.Prenatal diagnosis of chromosomic defects in Costa Rica. This is an historical overview of prenatal cytogenetic diagnosis in Costa Rica. It started in 1984 at the Institute for Health Research of the University of Costa Rica. This is the only fetal cytogenetic diagnosis facility in the country and serves social security as well as private patients. Perinatologists send amniotic fluid and fetal blood samples from high risk pregnancies, mainly due to abnormal ultrasound assessment, sonographic markers of aneuploidy and advanced maternal age. Second and third trimester diagnosis allows the development of coping strategies for the families of affected fetuses, since pregnancy interruption is not permitted. Normal fetal cytogenetic results provide reassurance to the parents. Rev. Biol. Trop. 52(3: 545-549. Epub 2004 Dic 15.

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

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Rasmussen M

2016-01-01

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

Prenatal care in your first trimester

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... is OK to bring your partner or labor coach with you. During your visits, your doctor or ... are a carrier for cystic fibrosis) A urine analysis and culture Ultrasounds An ultrasound is a simple, ...

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Science.gov (United States)

Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; Lench, Nicholas; Scott, Richard H; Chitty, Lyn S

2015-10-01

In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exome sequencing in fetuses with sonographic abnormalities but normal microarray analysis. Whole exome sequencing was performed on DNA extracted from chorionic villi or amniocytes in 24 fetuses with unexplained ultrasound findings. In the first 14 cases sequencing was initially performed on fetal DNA only. For the remaining 10, the trio of fetus, mother and father was sequenced simultaneously. In 21% (5/24) cases, exome sequencing provided definitive diagnoses (Milroy disease, hypophosphatasia, achondrogenesis type 2, Freeman-Sheldon syndrome and Baraitser-Winter Syndrome). In a further case, a plausible diagnosis of orofaciodigital syndrome type 6 was made. In two others, a single mutation in an autosomal recessive gene was identified, but incomplete sequencing coverage precluded exclusion of the presence of a second mutation. Whole exome sequencing improves prenatal diagnosis in euploid fetuses with abnormal ultrasound scans. In order to expedite interpretation of results, trio sequencing should be employed, but interpretation can still be compromised by incomplete coverage of relevant genes. © 2015 John Wiley & Sons, Ltd.

Peripheral blood cell microRNA quantification during the first trimester predicts preeclampsia: Proof of concept.

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Edward E Winger

Full Text Available We investigated the capacity of microRNAs isolated from peripheral blood buffy coat collected late during the first trimester to predict preeclampsia.The cohort study comprised 48 pregnant women with the following pregnancy outcomes: 8 preeclampsia and 40 with normal delivery outcomes. Quantitative rtPCR was performed on a panel of 30 microRNAs from buffy coat samples drawn at a mean of 12.7±0.5 weeks gestation. MicroRNA Risk Scores were calculated and AUC-ROC calculations derived.The AUC-ROC for preeclampsia risk was 0.91 (p<0.0001. When women with normal delivery and high-risk background (those with SLE/APS, chronic hypertension and/or Type 2 Diabetes were compared to women who developed preeclampsia but with a normal risk background (without these mentioned risk factors, preeclampsia was still predicted with an AUC-ROC of 0.92 (p<0.0001.MicroRNA quantification of peripheral immune cell microRNA provides sensitive and specific prediction of preeclampsia in the first trimester of pregnant women. With this study, we extend the range during which disorders of the placental bed may be predicted from early to the end of the first trimester. This study confirms that buffy coat may be used as a sample preparation.

Arrays in Postnatal and Prenatal Diagnosis : An Exploration of the Ethics of Consent

NARCIS (Netherlands)

Dondorp, Wybo; Sikkema-Raddatz, Birgit; de Die-Smulders, Christine; de Wert, Guido

The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range

Autocorrelation and cross-correlation between hCGβ and PAPP-A in repeated sampling during first trimester of pregnancy

DEFF Research Database (Denmark)

Nørgaard, Pernille; Wright, Dave; Ball, Susan

2013-01-01

Theoretically, repeated sampling of free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein-A (PAPP-A) in the first trimester of pregnancy might improve performance of risk assessment of trisomy 21 (T21). To assess the performance of a screening test involving repeated...... measures of biochemical markers, correlations between markers must be estimated. The aims of this study were to calculate the autocorrelation and cross-correlation between hCGβ and PAPP-A in the first trimester of pregnancy and to investigate the possible impact of gestational age at the first sample...

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

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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.

The role of histopathological examination of the products of conception following first-trimester miscarriage in Erbil Maternity Hospital

OpenAIRE

Payman Anwar Rashid

2017-01-01

Background and objective: Miscarriage represents a common problem that occurs in the first trimester of pregnancy. There is no general agreement on the value of submitting tissues from uterine evacuation in cases of miscarriage for histopathological examination. This study aimed to evaluate the role of histopathological examination in cases of first-trimester miscarriage. Methods: This is a descriptive study was carried out over a period of 14 months, from January 2015 to March 2016, at E...

Quality of Prenatal Care Services in Karabuk Community Health Center

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Binali Catak

2012-04-01

Full Text Available The aim of the study was to evaluate the quality and quantity of prenatal care services according to gestastional week in Karabuk Community Health Center (CHC. Methods: In this descriptive study 365 pregnant women was selected as sample among 753 pregnant women registered at Karabuk CHC in 18/01/2011. 93.0% of women in the selected sample has been visited in their homes and the face to face interviews were done. The questionnaire was prepared according to Prenatal Care Management Guidelines (PCMG of Ministry of Health. Findings The number of follow-ups was not complete in 23.7% of 15-24 month, 34.4% of 25-32 month, 52,1% of 33-42 month pregnant women. At least four follow-up visits were completed only in 66,7% of postpartum women. Timing of first visit was after 15th week in 15,6% of women. In follow up visits 62.5% of of women’s height were never measured, in 13,0% the women hearth sound of infants didn’t monitored at least once. Laboratory test numbers were under the level required by PCMG. The delivery conditions weren’t planned in 41,8% of last trimester and postpartum women and training about breastfeeding wasn’t given to 15,5 of the same group. Result In family medicine model in Karabuk CHC developments in number of prenatal follow-up visits were observed, but no substantial improvements were found in quality of prenatal visits. Regular in service trainings shoud be given to family doctors and midwives. The use of prenatal care guideline published by MoH should be increased. Keywords: Prenatal care, pregnancy, timing of first visit, qality of prenatal care [TAF Prev Med Bull 2012; 11(2.000: 153-162

Relationships of the First Trimester Maternal BMI with New-born Anthropometric Characteristics and Visfatin Levels throughout Pregnancy

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Tahergorabi Zoya

2017-08-01

Full Text Available Background: Birth weight has been shown to be influenced by numerous factors including, maternal characteristics such as maternal BMI. In pregnancy, there is increased adipose tissue which can cause to maternal obesity and insulin resistance. There is visfatin expression increase specific to pregnancy. Aim: We planned this study to assess relationships of the first trimester maternal BMI with new-born anthropometric characteristics and visfatin levels throughout pregnancy. Methods and Material: This longitudinal, observational study on 100 nulliparous pregnant women carried out in Birjand, Iran, over three trimesters in 2016. The researcher asked the participants to fill out the Researcher-made questionnaire including demographic and anthropometric characteristics including first trimester BMI and then referred them to laboratory to serum sample taking from mothers and visfatin levels measurement in the three trimesters. Neonate’s anthropometric measures (weight, height, head circumference and sex of new-borns were obtained from hospital reports. Results: Pearson correlation test indicated significant correlation between birth weight and the first trimester maternal BMI (r= 0.27, P=0.02. Also, Spearman’s correlation test showed a weak negative correlation between head circumference with mean visfatin level (r= -0.23, P=0.04. Linear regression showed that birth weight predicts 28% of variation of BMI. Also, there was significant difference between the maternal level of education and the mean of birth weight (P=0.027. Conclusions: Results of the present study showed that the mean of birth weight was comparable with capital cities in Iran, it is necessary to strengthen the existing mother and child health care program and to develop new approaches.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

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Chitty, Lyn S; Mason, Sarah; Barrett, Angela N; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A

2015-07-01

Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia. PCR-RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR-RED. NGS provides an accurate, flexible approach to non-invasive prenatal diagnosis of de novo and paternally inherited mutations. It is more sensitive than PCR-RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non-invasive prenatal diagnosis for other monogenic disorders. © 2015 John Wiley & Sons, Ltd.

Free leptin index and PAPP-A: a first trimester maternal serum screening test for pre-eclampsia

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Hedley, Paula L; Placing, Sophie; Wøjdemann, Karen

2010-01-01

BACKGROUND: Prophylaxis with low-dose aspirin may reduce the risk of pre-eclampsia (PE) if introduced in first trimester. The performance of first trimester maternal serum screening for PE using free leptin index (fLI) and PAPP-A, where fLI = leptin/leptin soluble receptor was studied. METHODS: F......: First trimester serum samples from 126 PE pregnancies and 289 control pregnancies were studied. fLI and PAPP-A were converted into gestational age and maternal weight independent log MoM values of PAPP-A and fLI. The screening performance of markers was studied by receiver......-operator-characteristics curves. The performance of population screening was estimated by Monte Carlo simulation. RESULTS: fLI was significantly (p controls [mean log MoM -0.0368 (SD: 0.3132)] and PAPP-A was significantly (p ....0133 (SD: 0.2661)] compared to controls [mean log MoM 0.0474 (SD: 0.2521)] in PE pregnancies. There was no correlation between fLI and PAPP-A in control or PE pregnancies. Combined fLI and PAPP-A screening for PE had estimated population detection rates of 22% and 35% for false positives rates of 6% and 12...

Early prenatal androgen exposure reduces testes size and sperm concentration in sheep without altering neuroendocrine differentiation and masculine sexual behavior.

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Scully, C M; Estill, C T; Amodei, R; McKune, A; Gribbin, K P; Meaker, M; Stormshak, F; Roselli, C E

2018-01-01

Prenatal androgens are largely responsible for growth and differentiation of the genital tract and testis and for organization of the control mechanisms regulating male reproductive physiology and behavior. The aim of the present study was to evaluate the impact of inappropriate exposure to excess testosterone (T) during the first trimester of fetal development on the reproductive function, sexual behavior, and fertility potential of rams. We found that biweekly maternal T propionate (100 mg) treatment administered from Day 30-58 of gestation significantly decreased (P < 0.05) postpubertal scrotal circumference and sperm concentration. Prenatal T exposure did not alter ejaculate volume, sperm motility and morphology or testis morphology. There was, however, a trend for more T-exposed rams than controls to be classified as unsatisfactory potential breeders during breeding soundness examinations. Postnatal serum T concentrations were not affected by prenatal T exposure, nor was the expression of key testicular genes essential for spermatogenesis and steroidogenesis. Basal serum LH did not differ between treatment groups, nor did pituitary responsiveness to GnRH. T-exposed rams, like control males, exhibited vigorous libido and were sexually attracted to estrous females. In summary, these results suggest that exposure to exogenous T during the first trimester of gestation can negatively impact spermatogenesis and compromise the reproductive fitness of rams. Copyright © 2017 Elsevier Inc. All rights reserved.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

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Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

Factors affecting delays in first trimester pregnancy termination services in New Zealand.

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Silva, Martha; McNeill, Rob; Ashton, Toni

2011-04-01

To identify the factors affecting the timeliness of services in first trimester abortion service in New Zealand. Primary data were collected from all patients attending nine abortion clinics between February and May 2009. The outcome measured was delay between the first visit with a referring doctor and the date of the abortion procedure. Patient records (n=2,950) were audited to determine the timeline between the first point of entry to the health system and the date of abortion. Women were also invited to fill out a questionnaire identifying personal factors affecting access to services (n=1,086, response rate = 36.8%). Women who went to private clinic had a significantly shorter delay compared to public clinics. Controlling for clinic type, women who went to clinics that offered medical abortions or clinics that offered single day services experienced less delay. Also, women who had more than one visit with their referring doctor experienced a greater delay than those who had a single visit. The earlier in pregnancy women sought services the longer the delay. Women's decision-making did not have a significant effect on delay. Several clinic level and systemic factors are significantly associated with delay in first trimester abortion services. In order to ensure the best physical and emotional outcomes, timeliness of services must improve. © 2011 The Authors. ANZJPH © 2011 Public Health Association of Australia.

First trimester screening for Down syndrome and assisted reproduction: no basis for concern

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Wøjdemann, K R; Larsen, S O; Shalmi, A

2001-01-01

In pregnancies obtained after assisted reproduction the false-positive rate of second trimester Down syndrome (DS) screening is increased by 1.5-3-fold. This may cause an increase in the number of amniocenteses and the fetal loss rate. The present study for the first time examined whether assiste...

The features of the first trimester of pregnancy course in first-time mothers over 40 years old

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Т. V. Lescheva

2017-12-01

Full Text Available The purpose of the work is the pregnancy miscarriage frequency reduction in primiparous women over 40 years old on the basis of the clinical-echographic, endocrinological, biochemical and microbiological changes study. Materials and Methods. A clinical-functional and laboratory studies were performed on 40 primiparous women over 40 years old, divided into two groups (the first group was divided into two subgroups. Results. In the current conditions the frequency of premature abortion varies within 10-25%. Despite the fact that many scientific groups in Ukraine and abroad work to solve this problem, the level of miscarriage is from 5.0 to 10.0%. Among the various risk factors for miscarriage a greater importance is put on the women’s reproductive history, especially in terms of age for women and men who are planning a pregnancy. The progress of modern reproductive medicine has created the prerequisites for origin of reproductive system disorders understanding in women and provided an opportunity for mechanisms of miscarriage better understanding in women who are naturally pregnant and with assistive reproductive technologies (ART. The special group of risk consists of primiparous women over 40 years old. Apart from that the miscarriage pathogenesis in these women, including after the ART, is underinvestigated. There are no clear data on the peculiarities of the fetoplacental complex formation and functional state and of a fetus and a newborn state depending on the endocrinological and immunological features. Additionally, there are no data on the possibility of miscarriage prevention and early diagnosis, taking into account the option of pregnancy. Conclusions. As the results from the first trimester of pregnancy have shown, primiparous women over 40 years old represent a high-risk group of miscarriage with a frequency of 15.0%. This complication develops against the background of pronounced echographic changes (amniotic hypoplasia, premature

Depressive symptoms and gestational length among pregnant adolescents: Cluster randomized control trial of CenteringPregnancy® plus group prenatal care.

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Felder, Jennifer N; Epel, Elissa; Lewis, Jessica B; Cunningham, Shayna D; Tobin, Jonathan N; Rising, Sharon Schindler; Thomas, Melanie; Ickovics, Jeannette R

2017-06-01

Depressive symptoms are associated with preterm birth among adults. Pregnant adolescents have high rates of depressive symptoms and low rates of treatment; however, few interventions have targeted this vulnerable group. Objectives are to: (a) examine impact of CenteringPregnancy® Plus group prenatal care on perinatal depressive symptoms compared to individual prenatal care; and (b) determine effects of depressive symptoms on gestational age and preterm birth among pregnant adolescents. This cluster-randomized controlled trial was conducted in 14 community health centers and hospitals in New York City. Clinical sites were randomized to receive standard individual prenatal care (n = 7) or CenteringPregnancy® Plus group prenatal care (n = 7). Pregnant adolescents (ages 14-21, N = 1,135) completed the Center for Epidemiologic Studies Depression Scale during pregnancy (second and third trimesters) and postpartum (6 and 12 months). Gestational age was obtained from medical records, based on ultrasound dating. Intention to treat analyses were used to examine objectives. Adolescents at clinical sites randomized to CenteringPregnancy® Plus experienced greater reductions in perinatal depressive symptoms compared to those at clinical sites randomized to individual care (p = .003). Increased depressive symptoms from second to third pregnancy trimester were associated with shorter gestational age at delivery and preterm birth (<37 weeks gestation). Third trimester depressive symptoms were also associated with shorter gestational age and preterm birth. All p < .05. Pregnant adolescents should be screened for depressive symptoms prior to third trimester. Group prenatal care may be an effective nonpharmacological option for reducing depressive symptoms among perinatal adolescents. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Severe hemolytic disease of fetus and newborn caused by red blood cell antibodies undetected at first-trimester screening (CME).

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Dajak, Slavica; Stefanović, Vedran; Capkun, Vesna

2011-07-01

The objective was to determine clinical consequences of anti-D and non-D antibodies undetected at first-trimester screening for infant or fetus. This retrospective cohort study included all pregnant women with red blood cell (RBC) antibodies who were tested between 1993 and 2008. Data were obtained from the forms for tracking immunization at the transfusion department. Each form was analyzed for three data sets: the order of screening at which the antibodies were detected (initial or repeated screening), the order of pregnancy (first pregnancy or higher), and whether the antibodies caused severe hemolytic disease of fetus and newborn (HDFN). In D- women, anti-D was detected in 1.3% of cases. The anti-D was undetected in 72 (37%) cases on the first-trimester screening, of which eight cases were complicated by severe HDFN. In this group, three patients were primigravidae. An overall non-D incidence of 0.2% was observed. In 16 cases, non-D were undetected on the first-trimester screening (10 anti-c, two anti-E, two anti-C, one anti-S, and one case of anti-Rh17). Non-D antibodies undetected on initial screening caused 11 cases of severe HDFN (27% of all severe non-D HDFN). Ten of them were in multiparous women. Seven of 11 cases with severe HDFN that were missed were caused by anti-c. The third-trimester screening may detect RBC antibodies that were not present or detected on the first-trimester screening. Such screening may be especially relevant in D+ multiparous women due to the risk of HDFN. © 2010 American Association of Blood Banks.

Sonographic features of lethal multiple pterygium syndrome at 14 weeks.

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Chen, Min; Chan, Gavin Shueng Wai; Lee, Chin Peng; Tang, Mary Hoi Yin

2005-06-01

Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.

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

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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

Towards Early Biochemical screening for Fetal Aneupliody in the First Trimester

DEFF Research Database (Denmark)

Tørring, Niels

2011-01-01

Objectives At Aarhus University Hospital, Denmark, the first trimester screening has been performed with the blood sample taken as early as gestational week 7 since 2003. We hereby present the status for the screening program. Methods: The study includes singleton pregnancies with complete first......: Screening for fetal aneuploidy can be performed with good results with the blood sample taken as early as the 7th week of gestation. Taking the blood sample before the 10th gestational week showed a high detection rate of fetal trisomy 21, with no difference in the detection of fetal trisomy 18, 13...

Prenatal bisphenol a urine concentrations and early rapid growth and overweight risk in the offspring.

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Valvi, Damaskini; Casas, Maribel; Mendez, Michelle A; Ballesteros-Gómez, Ana; Luque, Noelia; Rubio, Soledad; Sunyer, Jordi; Vrijheid, Martine

2013-11-01

Increasing experimental evidence suggests that prenatal bisphenol A (BPA) exposure induces offspring weight gain, but these effects remain largely unexplored in humans. We examined the effects of prenatal BPA exposure on postnatal growth and obesity. BPA concentrations were measured in two spot-urine samples collected in the 1st and 3rd trimesters of pregnancy from mothers in a Spanish birth cohort study (n = 402). We used the average of the two creatinine-adjusted BPA concentrations as the exposure variable. Rapid child growth was defined as a weight gain Z score >0.67 in the first 6 months of life. Age- and sex-specific Z scores for body mass index (BMI) were calculated at age 14 months and 4 years, based on the World Health Organization referent; overweight was defined as a BMI Z score greater than or equal to the 85th percentile. Age- and sex-specific waist circumference Z scores were calculated at age 14 months and 4 years using the analysis population mean. Twenty-six percent of children were rapid growers; 25% were overweight at 14 months and 21% at 4 years. Geometric mean BPA concentrations were 2.6 μg/g creatinine (standard deviation = 2.3) in 1st trimester and 2.0 (2.3) in 3rd trimester samples (Pearson r = 0.13). At 4 years, BPA exposure was associated with increased waist circumference (β per log10 μg/g = 0.28 [95% confidence interval = 0.01 to 0.57]) and BMI (β = 0.28 [-0.06 to 0.63]). BPA was not associated with obesity-related outcomes at earlier ages. This study provides some evidence for an association between prenatal BPA exposure and obesity-related outcomes in childhood, although not in infancy. The large uncertainties in BPA exposure assessment require that findings be interpreted with caution.

Prevalence of and Risk Factors for Depressive Symptoms in Korean Women throughout Pregnancy and in Postpartum Period.

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Park, Jeong-Hwan; Karmaus, Wilfried; Zhang, Hongmei

2015-09-01

Prenatal depression is a significant predictor for postpartum depression. However, there is a lack of research on risk factors for Korean women related to prenatal depression and the relationship between prenatal depression during the three trimesters and postpartum depression. Therefore, aims of this study were (1) to identify the prevalence of depression during all three trimesters and the postpartum period, (2) to evaluate the relationship between prenatal depression in each trimester and postpartum depression, and (3) to identify the relationship and differences in prenatal depression based on sociodemographic factors in Korean women. One hundred and fifty three Korean women were recruited from three maternity clinics in Korea. Prenatal and postpartum depressions were evaluated in the first, second (24-26 weeks), third (32-34 weeks) trimester and 4 weeks postpartum with the Edinburgh Postnatal Depression Scale-Korean. The prevalence of depression in the prenatal and postpartum period ranged from 40.5% to 61.4%. Depression in the second and the third trimester was significantly correlated with depression in the postpartum period. Unemployment and household income were risk factors for prenatal depression in the first and second trimesters. To assist women suffering from postpartum depression and prevent its effects, women should be screened for prenatal depression during all three trimesters. For Korean women with high risk factors for prenatal depression, we suggest that the Korean government establish healthcare policies related to depression screening as routine prenatal care and mental health referral systems. Copyright © 2015. Published by Elsevier B.V.

Prenatal exposure to bereavement and type-2 diabetes: a Danish longitudinal population based study.

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Jasveer Virk

Full Text Available BACKGROUND: The etiology of type-2 diabetes is only partly known, and a possible role of prenatal stress in programming offspring for insulin resistance has been suggested by animal models. Previously, we found an association between prenatal stress and type-1 diabetes. Here we examine the association between prenatal exposure to maternal bereavement during preconception and pregnancy and development of type-2 diabetes in the off-spring. METHODS: We utilized data from the Danish Civil Registration System to identify singleton births in Denmark born January 1(st 1979 through December 31(st 2008 (N = 1,878,246, and linked them to their parents, grandparents, and siblings. We categorized children as exposed to bereavement during prenatal life if their mothers lost an elder child, husband or parent during the period from one year before conception to the child's birth. We identified 45,302 children exposed to maternal bereavement; the remaining children were included in the unexposed cohort. The outcome of interest was diagnosis of type-2 diabetes. We estimated incidence rate ratios (IRRs from birth using log-linear poisson regression models and used person-years as the offset variable. All models were adjusted for maternal residence, income, education, marital status, sibling order, calendar year, sex, and parents' history of diabetes at the time of pregnancy. RESULTS: We found children exposed to bereavement during their prenatal life were more likely to have a type-2 diabetes diagnosis later in life (aIRR: 1.31, 1.01-1.69. These findings were most pronounced when bereavement was caused by death of an elder child (aIRR: 1.51, 0.94-2.44. Results also indicated the second trimester of pregnancy to be the most sensitive period of bereavement exposure (aIRR:2.08, 1.15-3.76. CONCLUSIONS: Our data suggests that fetal exposure to maternal bereavement during preconception and the prenatal period may increase the risk for developing type-2 diabetes in

Alcohol reduction in the first trimester is unrelated to smoking, patient or pregnancy characteristics

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Kristen A. Schmidt

2017-06-01

Conclusions: Women reported reducing their alcohol consumption during pregnancy, including those screening positive for pre-pregnancy problem drinking. First trimester alcohol reduction cannot be accounted for by smoking, patient or pregnancy characteristics; public health initiatives, psychological factors and hormonal mechanisms may be implicated.

Detection of cytomegalovirus, human parvovirus B19, and herpes simplex virus-1/2 in women with first-trimester spontaneous abortions.

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Zhou, Ya; Bian, Guohui; Zhou, Qiongxiu; Gao, Zhan; Liao, Pu; Liu, Yu; He, Miao

2015-10-01

The relationship between viral infections and first-trimester spontaneous abortions is not well-understood. The study aim was to investigate the prevalence of cytomegalovirus (CMV), human parvovirus B19 (B19V), and herpes simplex virus-1/2 (HSV-1/2) infection by molecular and serological techniques in women experiencing spontaneous miscarriage in the first trimester of pregnancy. Plasma samples were examined for CMV, B19V, and HSV-1/2 DNA using real-time quantitative polymerase chain reaction (Real-time qPCR), and for specific IgG antibodies against B19V, CMV, and HSV-1/2 using serological assays. The abortion group consisted of women (n = 1,716) with a history of two or more first-trimester spontaneous abortions. Women younger than 30 years possess higher portion to experience spontaneous abortion. No specimens were positive for B19V or CMV DNA. Seven out of the 1,716 specimens were positive for HSV-1/2 DNA. By serology, 47.24% of patients were positive for B19V IgG, 39.66% for HSV IgG, 79.31% for CMV IgG, and 9.31% for B19V IgM. The high rate of positivity for CMV IgG suggests that the majority of women with first-trimester spontaneous abortions are not susceptible to primary CMV infection. The lack of virus DNA in the majority of cases indicates that B19V, CMV, and HSV-1/2 infection is not commonly associated with first-trimester spontaneous abortion. © 2015 Wiley Periodicals, Inc.

T CD3+CD8+ Lymphocytes Are More Susceptible for Apoptosis in the First Trimester of Normal Human Pregnancy

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Dorota Darmochwal-Kolarz

2014-01-01

Full Text Available Aims. Normal human pregnancy is a complex process of many immunoregulatory mechanisms which protect fetus from the activation of the maternal immune system. The aim of the study was to investigate the apoptosis of lymphocytes in peripheral blood of normal pregnant patients and healthy nonpregnant women. Methods. Sixty pregnant women and 17 nonpregnant women were included in the study. Lymphocytes were isolated and labeled with anti-CD3, anti-CD4, and anti-CD8 monoclonal antibodies. Apoptosis was detected by CMXRos staining and analyzed using the flow cytometric method. Results. We found significantly higher apoptosis of total lymphocytes in peripheral blood of pregnant patients when compared to healthy nonpregnant women. The percentage of apoptotic T CD3+CD8+ cells in the first trimester was significantly higher when compared to the third trimester of normal pregnancy. The ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic lymphocytes was significantly lower in the first trimester when compared to other trimesters of pregnancy and to both of the phases of the menstrual cycle. Conclusions. The higher apoptosis of T CD3+CD8+ lymphocytes and the lower ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic cells in the first trimester of normal pregnancy may suggest a higher susceptibility of T CD3+CD8+ cells for apoptosis as a protective mechanism at the early stage of pregnancy.

Prenatal care and child growth and schooling in four low- and medium-income countries.

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Liu, Xiaoying; Behrman, Jere R; Stein, Aryeh D; Adair, Linda S; Bhargava, Santosh K; Borja, Judith B; da Silveira, Mariangela Freitas; Horta, Bernardo L; Martorell, Reynaldo; Norris, Shane A; Richter, Linda M; Sachdev, Harshpal S

2017-01-01

The effectiveness of prenatal care for improving birth and subsequent child outcomes in low-income countries remains controversial, with much of the evidence to date coming from high-income countries and focused on early-life outcomes. We examined associations between prenatal care visits and birth weight, height-for-age at 24 months and attained schooling in four low- and middle-income countries. We pooled data from prospective birth-cohort studies from Brazil, Guatemala, Philippines and South Africa. We created a prenatal care utilization index based on the number and timing of prenatal visits. Associations were examined between this index and birth weight, height-for-age at 24 months, and highest attained schooling grade until adulthood. Among 7203 individuals in the analysis, 68.9% (Philippines) to 96.7% (South Africa) had at least one prenatal care visit, with most having at least four visits. Over 40% of Brazilians and Guatemalans had their first prenatal visit in the first trimester, but fewer Filipinos (13.9%) and South Africans (19.8%) did so. Prenatal care utilization was not significantly associated with birth weight (p>0.05 in pooled data). Each unit increase in the prenatal care utilization index was associated with 0.09 (95% CI 0.04 to 0.15) higher height-for-age z-score at 24 months and with 0.26 (95% CI 0.17 to 0.35) higher schooling grades attained. Although there was some heterogeneity and greater imprecision across sites, the results were qualitatively similar among the four different populations. While not related to birth weight, prenatal care utilization was associated with important outcomes later in life, specifically higher height-for-age at 24 months and higher attained school grades. These results suggest the relevance of prenatal care visits for human capital outcomes important over the lifecycle.

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

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

2012-07-01

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

Does prenatal maternal stress impair cognitive development and alter temperament characteristics in toddlers with healthy birth outcomes?

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Zhu, Peng; Sun, Meng-Sha; Hao, Jia-Hu; Chen, Yu-Jiang; Jiang, Xiao-Min; Tao, Rui-Xue; Huang, Kun; Tao, Fang-Biao

2014-03-01

The aim of this study was to assess the cognitive and behavioural development of children with healthy birth outcomes whose mothers were exposed to prenatal stress but did not experience pregnancy complications. In this prospective study, self-reported data, including the Prenatal Life Events Checklist about stressful life events (SLEs) during different stages of pregnancy, were collected at 32 to 34 weeks' gestation. Thirty-eight healthy females (mean age 27 y 8 mo, SD 2 y 4 mo) who were exposed to severe SLEs in the first trimester were defined as the exposed infant group, and 114 matched comparison participants were defined as the unexposed infant group (1:3). Maternal postnatal depressive symptoms were assessed with the Edinburgh Postnatal Depression Scale. The Bayley Scales of Infant Development and the Toddler Temperament Scale were used to evaluate the cognitive development and temperament characteristics of the infants with healthy birth outcomes when they were 16 to 18 months old. A randomized block multivariate analysis of covariance showed that the mental development index scores of the infants of mothers with prenatal exposure to SLEs in the first trimester averaged seven points (95% confidence interval 3.23-10.73 points) lower than those of the unexposed infants. Moreover, the infants in the exposed group achieved higher scores for regularity (adjusted mean [SD] 2.77 [0.65] vs. 2.52 [0.78], F(5,146) =5.27, p=0.023) and for persistence and attention span (adjusted mean 3.61 [0.72] vs. 3.35 [0.52], F(5,146) =5.51, p=0.020). This study provides evidence that lower cognitive ability and less optimal worse behavioural response in infants might independently result from prenatal maternal stress. © 2014 Mac Keith Press.

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

International Nuclear Information System (INIS)

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

2003-01-01

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

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

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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.)

Timing of prenatal exposure to trauma and altered placental expressions of hypothalamic-pituitary-adrenal axis genes and genes driving neurodevelopment.

Science.gov (United States)

Zhang, W; Li, Q; Deyssenroth, M; Lambertini, L; Finik, J; Ham, J; Huang, Y; Tsuchiya, K J; Pehme, P; Buthmann, J; Yoshida, S; Chen, J; Nomura, Y

2018-04-01

Prenatal maternal stress increases the risk for negative developmental outcomes in offspring; however, the underlying biological mechanisms remain largely unexplored. In the present study, alterations in placental gene expression associated with maternal stress were examined to clarify the potential underlying epi/genetic mechanisms. Expression levels of 40 selected genes involved in regulating foetal hypothalamic-pituitary-adrenal axis and neurodevelopment were profiled in placental tissues collected from a birth cohort established around the time of Superstorm Sandy. Objective prenatal traumatic stress was defined as whether mothers were exposed to Superstorm Sandy during pregnancy. Among the 275 mother-infant dyads, 181 dyads were delivered before Superstorm Sandy (ie, Control), 66 dyads were exposed to Superstorm Sandy during the first trimester (ie, Early Exposure) and 28 were exposed to Superstorm Sandy during the second or third trimester (ie, Mid-Late Exposure). Across all trimesters, expression of HSD11B2, MAOA, ZNF507 and DYRK1A was down-regulated among those exposed to Superstorm Sandy during pregnancy. Furthermore, trimester-specific differences were also observed: exposure during early gestation was associated with down-regulation of HSD11B1 and MAOB and up-regulation of CRHBP; exposure during mid-late gestation was associated with up-regulation of SRD5A3. The findings of the present study suggest that placental gene expression may be altered in response to traumatic stress exposure during pregnancy, and the susceptibility of these genes is dependent on the time of the exposure during pregnancy. Further studies should aim to clarify the biological mechanisms that underlie trimester-specific exposure by evaluating the differential impact on offspring neurodevelopment later in childhood. © 2018 British Society for Neuroendocrinology.

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

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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.

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

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

2016-01-01

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

Pancytopenia in the first trimester: An indicator of hidden hyperthyroidism.

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Imai, Ken; Ohkuchi, Akihide; Nagayama, Shiho; Saito, Shinsuke; Matsubara, Shigeki; Suzuki, Mitsuaki

2015-12-01

Pancytopenia in the first trimester is very rare. A 33-year-old multiparous woman presented with nausea, loss of appetite, and bodyweight loss of 7.4 kg at 9(1/7) weeks of gestation due to hyperemesis gravidarum. Her laboratory data demonstrated pancytopenia involving white blood cell count of 3500/μL, a hemoglobin level of 9.8 g/dL, and a platelet count of 10.5 × 10(4)/μL. An extensive investigation into the causes of the pancytopenia detected true hyperthyroidism: thyroid-stimulating hormone, hyperthyroidism. © 2015 Japan Society of Obstetrics and Gynecology.

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

DEFF Research Database (Denmark)

Wemakor, A.; Casson, K.; Garne, E.

2015-01-01

Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

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

International Nuclear Information System (INIS)

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

2006-01-01

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

The maternal age-related first trimester risks for trisomy 21, 18 and 13 based on Danish first trimester data from 2005 to 2014

DEFF Research Database (Denmark)

Hartwig, Tanja Schlaikjær; Sørensen, Steen; Jørgensen, Finn Stener

2016-01-01

OBJECTIVES: Most currently used age-related risks of T21, T18 and T13 are based on estimates of the live-birth prevalence, and describe an exponential increase of risk by increased maternal age. We investigated the first trimester prevalence of T21, T18 and T13 in a large population of Danish women......) / slope)) was found to best describe the age-related risk of T21, T18 and T13. CONCLUSION: We found that the age-related risks are better described by sigmoidal functions, contrary to the widely assumed exponential functions. Our results indicate a lower age-related a priori risk of T21, T18 and T13...

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.

Science.gov (United States)

Mademont-Soler, Irene; Morales, Carme; Clusellas, Núria; Soler, Anna; Sánchez, Aurora

2011-08-01

Chromosome abnormalities are one of the main causes of congenital defects, and establishing their frequency according to the different clinical indications for invasive procedure during pregnancy is especially important for genetic counselling. We analyzed the results of 29,883 amniotic fluid samples referred to our laboratory for cytogenetic studies from 1998 to 2009, which constitutes the largest series of cytogenetic analysis performed on amniotic fluid samples in Spain. The number of samples received tended to increase from 1998 to 2005, but after 2005 it decreased substantially. Cytogenetic results were obtained in 99.5% of the samples, and the detected incidence of chromosome abnormalities was 2.9%. Of these, 48.1% consisted of classical autosomal aneuploidies, trisomy 21 being the most frequent one. The main clinical indications for amniocentesis were positive prenatal screening and advanced maternal age, but referral reasons with highest positive predictive values were, excluding parental chromosome rearrangement, increased nuchal translucency (9.2%) and ultrasound abnormalities (6.6%). In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Determinants of first and second trimester induced abortion - results from a cross-sectional study taken place 7 years after abortion law revisions in Ethiopia.

Science.gov (United States)

Bonnen, Kristine Ivalu; Tuijje, Dereje Negussie; Rasch, Vibeke

2014-12-19

In 2005 Ethiopia took the important step to protect women's reproductive health by liberalizing the abortion law. As a result women were given access to safe pregnancy termination in first and second trimester. This study aims to describe socio-economic characteristics and contraceptive experience among women seeking abortion in Jimma, Ethiopia and to describe determinants of second trimester abortion. A cross-sectional study conducted October 2011 - April 2012 in Jimma Town, Ethiopia among women having safely induced abortion and women having unsafely induced abortion. In all 808 safe abortion cases and 21 unsafe abortion cases were included in the study. Of the 829 abortions, 729 were first trimester and 100 were second trimester abortions. Bivariate and multivariate logistic regressions were used to determine risk factors associated with second trimester abortion. The associations are presented as odds ratios (OR) with 95% confidential intervals. Age stratified analyses of contraceptive experience among women with first and second trimester abortions are also presented. Socio-economic characteristics associated with increased ORs of second trimester abortion were: age abortion where only 15% and 19% stated they had ever used contraception. Young age, poor education and the prospect of single parenthood were associated with second trimester abortion. Young girls and young women were using contraception comparatively less often than older women. To ensure women full right to control their fertility in the setting studied, modern contraception should be made available, accessible and affordable for all women, regardless of age.

The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards.

Science.gov (United States)

Carlsson, Tommy; Starke, Veronica; Mattsson, Elisabet

2017-05-01

to explore written statements found in online discussion boards where parents currently expecting, or with previous experience of expecting, a child with a prenatally diagnosed congenital anomaly communicate about their emotional process from diagnosis to birth. cross-sectional qualitative study of messages in public online discussion boards. Swedish public discussion boards about reproductive subjects. ten pregnant women and eight parents (of children with prenatal diagnoses) who had written 852 messages in five threads in Swedish online discussion boards identified via systematic searches. three phases were identified in the process of moving from the diagnosis to the birth: shock, existential crisis, and life remodeling. The people posting message ('posters') moved from initial shock to existential crisis and, lastly, a phase of remodeling life later in the pregnancy. During the pregnancy, considerable worries about both antenatal and postnatal aspects were expressed. To cope with their situation, the posters distanced themselves from the diagnoses, vented their feelings, sought control, and obtained practical support from friends and relatives. expectant parents faced with a prenatal diagnosis move from initial shock to a phase of life remodeling and acceptance. Burdened with considerable worries, expectant parents cope with their situation through informational, emotional, and instrumental support from health professionals, family, friends, and peers. health professionals should make sure that expectant parents feel involved in planning their children's postnatal care, that they are offered sufficient information, and that they have access to emotional and instrumental support structures. Copyright © 2017. Published by Elsevier Ltd.

The association between prenatal sleep quality and obstetric outcome.

Science.gov (United States)

Hung, Hsuan-Man; Ko, Shu-Hua; Chen, Chung-Hey

2014-09-01

Pregnancy-associated sleep disorder is a new category on the latest version of the International Classification of Sleep Disorders. It is a significant problem for pregnant women. The present follow-up study assesses the association between sleep quality during the second and third trimesters of pregnancy and obstetric-neonatal outcomes. A prospective follow-up study design was used. Follow-up examination of the obstetric birth records in the immediate postpartum period were carried out on 128 second-trimester and 120 third-trimester women and their newborns in two hospitals in Taiwan. Poor sleep quality was identified using the Pittsburgh Sleep Quality Index. Data were collected from October 2007 to June 2008. The prevalence of poor sleepers (Pittsburgh Sleep Quality Index score > 5) was 58% for second-trimester participants and 66% for third-trimester participants; participants who were unemployed reported a significantly higher prevalence of poor sleep quality than those who were employed. Subsequent review of the participant's obstetric birth records revealed that third-trimester poor sleepers were more likely to have had a vacuum-assisted delivery. This study identified poor sleep quality during the third trimester as a novel risk factor for vacuum-assisted delivery. We suggest that prenatal healthcare providers focus greater attention to the sleep disturbance condition of pregnant women and provide proactive sleep counseling to facilitate pregnant women's adjustment to the new psychosocial and physiological demands of motherhood.

What Is the Rate of Incomplete Fetal Anatomic Surveys During a Second-Trimester Scan? Retrospective Observational Study of 4000 Nonobese Pregnant Women.

Science.gov (United States)

Padula, Francesco; Gulino, Ferdinando Antonio; Capriglione, Stella; Giorlandino, Maurizio; Cignini, Pietro; Mastrandrea, Maria Luisa; D'Emidio, Laura; Giorlandino, Claudio

2015-12-01

The purpose of this study was to estimate the rate of incomplete fetal anatomic surveys during a second-trimester scan due to an unfavorable fetal position in a nonobese population. All pregnant women who came to the Altamedica Fetal-Maternal Medical Center, a specialized center for prenatal diagnosis, for a routine second-trimester scan between January 2012 and April 2013 were retrospectively included in the analysis. Patients with a body mass index higher than 30.0 kg/m(2) or anterior fibroids larger than 5 cm were not included in the study. Of 4000 pregnant women admitted for a second-trimester scan, 169 (4.2%) came back within 2 weeks to complete the examination because of an unfavorable fetal position. In particular, 104 (2.6%) needed visualization of only 1 view, and 65 (1.6%) needed more than 1 view. The most difficult organ to visualize was the corpus callosum, in 73 cases (1.8%); the face was not visualized in 69 cases (1.7%); the cerebellar vermis was not seen in 47 fetuses (1.1%); and the heart could not be completely examined in 40 fetuses (1.0%). Of the 4000 women, 169 (4.2%) had a nonexhaustive scan; 149 (3.7%) needed a second scan to complete the second-trimester survey; 14 (0.35%) needed a third scan; and 2 (0.05%) remained with a not completely exhaustive scan. There is always a small percentage of incomplete fetal anatomic surveys during a second-trimester scan, which cannot be modified by the sonographer's skill or by technical sonographic innovations. © 2015 by the American Institute of Ultrasound in Medicine.

Determinants of first and second trimester induced abortion - results from a cross-sectional study taken place 7 years after abortion law revisions in Ethiopia

DEFF Research Database (Denmark)

Bonnen, Kristine Ivalu; Tuijje, Dereje Negussie; Rasch, Vibeke

2014-01-01

BACKGROUND: In 2005 Ethiopia took the important step to protect women's reproductive health by liberalizing the abortion law. As a result women were given access to safe pregnancy termination in first and second trimester. This study aims to describe socio-economic characteristics and contraceptive...... experience among women seeking abortion in Jimma, Ethiopia and to describe determinants of second trimester abortion. METHODS: A cross-sectional study conducted October 2011 - April 2012 in Jimma Town, Ethiopia among women having safely induced abortion and women having unsafely induced abortion. In all 808...... safe abortion cases and 21 unsafe abortion cases were included in the study. Of the 829 abortions, 729 were first trimester and 100 were second trimester abortions. Bivariate and multivariate logistic regressions were used to determine risk factors associated with second trimester abortion...

Twin pregnancy

DEFF Research Database (Denmark)

Sperling, Lene; Tabor, A

2001-01-01

Determination of chorionicity is one of the most important issues in the management of twin pregnancy. Modern ultrasound equipment has made it possible to accurately assess placentation already in the first trimester with the lambda sign. With regard to prenatal diagnosis, it is important to know...... for clinicians caring for twin pregnancies....

Psychosocial Stress During First Pregnancy Predicts Infant Health Outcomes in the First Postnatal Year.

Science.gov (United States)

Phelan, A L; DiBenedetto, M R; Paul, I M; Zhu, J; Kjerulff, K H

2015-12-01

To evaluate the impact of psychosocial stress during pregnancy on infant health outcomes in the first postnatal year. A sample of 3000 women completed a stress inventory (the Psychosocial Hassles Scale) during their third trimester before first childbirth. Infant health outcomes were measured via maternal report at 1, 6 and 12 months postpartum. Poisson regression was used to model the effect of maternal stress during pregnancy on infant health outcomes in the first year, controlling for age, race/ethnicity, education, insurance coverage, marital status, and cigarette smoking during pregnancy. Women who were younger, minority, unmarried, publicly insured and without a college degree were more likely to report high levels of prenatal stress. High prenatal stress was a significant predictor of maternal reporting of gastrointestinal illness (p stress was also a significant predictor of urgent care visits (p stress is associated with increased maternal reporting of infant illness, as well as increased frequency of both urgent care visits and emergency department visits.

The relationship between prenatal care, personal alcohol abuse and alcohol abuse in the home environment

Science.gov (United States)

GREKIN, EMILY R.; ONDERSMA, STEVEN J.

2013-01-01

Aims Nearly one-fourth of African-American women receive no prenatal care during the first trimester of pregnancy. The aim of the current study is to identify factors that underlie inadequate prenatal care among African-American women. Maternal alcohol abuse has been examined as one risk factor for inadequate prenatal care, but findings have been inconsistent, perhaps because (a) alcohol use during pregnancy is substantially under-reported and (b) studies have not considered the wider social network in which maternal alcohol use takes place. The current study attempts to clarify relationships between personal alcohol use, alcohol use in the home environment, and prenatal care in a sample of post-partum women. Methods Participants were 107 low-income, primarily African-American women. All participants completed a computer-based screening which assessed personal and environmental alcohol use, prenatal care and mental health. Findings Environmental alcohol use was related to delayed prenatal care while personal alcohol use was not. More specifically, after controlling for demographic variables, the presence of more than three person-episodes of binge drinking in a woman’s home environment increased the odds of seriously compromized prenatal care by a factor of seven. Conclusions Findings suggest the need to further assess environmental alcohol use and to examine the reliability of personal alcohol use measures. PMID:24391354

Changes in circulating level of IGF-I and IGF-binding protein-1 from the first to second trimester as predictors of preeclampsia

DEFF Research Database (Denmark)

Vatten, Lars J; Nilsen, Tom I L; Juul, Anders

2008-01-01

To assess whether circulating IGF-I and IGF-binding protein-1 (IGFBP-1) in the first and second trimester are associated with subsequent risk of preterm and term preeclampsia.......To assess whether circulating IGF-I and IGF-binding protein-1 (IGFBP-1) in the first and second trimester are associated with subsequent risk of preterm and term preeclampsia....

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

First-trimester mean arterial blood pressure and the risk of preeclampsia: The Great Obstetrical Syndromes (GOS) study.

Science.gov (United States)

Gasse, Cédric; Boutin, Amélie; Coté, Maxime; Chaillet, Nils; Bujold, Emmanuel; Demers, Suzanne

2018-04-01

To estimate the predictive value of first-trimester mean arterial pressure (MAP) for the hypertensive disorders of pregnancy (HDP). We performed a prospective cohort study of nulliparous women recruited at 11 0/7 -13 6/7  weeks. MAP was calculated from blood pressure measured on both arms simultaneously using an automated device taking a series of recordings until blood pressure stability was reached. MAP was reported as multiples of the median adjusted for gestational age. Participants were followed for development of gestational hypertension (GH), preeclampsia (PE), preterm PE (curves and the area under the curve (AUC) were used to estimate the predictive values of MAP. Multivariate logistic regressions were used to develop predictive models combining MAP and maternal characteristics. We obtained complete follow-up in 4700 (99%) out of 4749 eligible participants. GH without PE was observed in 250 (5.3%) participants, and PE in 241 (5.1%), including 33 (0.7%) preterm PE and 10 (0.2%) EO-PE. First-trimester MAP was associated with GH (AUC: 0.77; 95%CI: 0.74-0.80); term PE (0.73; 95%CI: 0.70-0.76), preterm PE (0.80; 95%CI: 0.73-0.87) and EO-PE (0.79; 95%CI: 0.62-0.96). At a 10% false-positive rate, first-trimester MAP could have predicted 39% of GH, 34% of term PE, 48% of preterm PE and 60% of EO-PE. The addition of maternal characteristics improved the predictive values (to 40%, 37%, 55% and 70%, respectively). First-trimester MAP is a strong predictor of GH and PE in nulliparous women. Copyright © 2017 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.

Prenatal ambient air exposure to polycyclic aromatic hydrocarbons and the occurrence of respiratory symptoms over the first year of life.

Science.gov (United States)

Jedrychowski, Wieslaw; Galas, Aleksander; Pac, Agnieszka; Flak, Elzbieta; Camman, David; Rauh, Virginia; Perera, Frederica

2005-01-01

The purpose of the study was to test the hypothesis that infants with higher levels of prenatal exposure to polycyclic aromatic hydrocarbons (PAHs) from fossil fuel combustion may be at greater risk of developing respiratory symptoms. The study was carried out in a cohort of 333 newborns in Krakow, Poland, followed over the first year of life, for whom data from prenatal personal air monitoring of mothers in the second trimester of pregnancy were available. The relative risks of respiratory symptoms due to prenatal PAHs exposure were adjusted for potential confounders (gender of child, birth weight, maternal atopy, maternal education as a proxy for the socio-economic status, exposure to postnatal environmental tobacco smoke, and moulds in households) in the Poisson regression models. Increased risk related to prenatal PAH exposure was observed for various respiratory symptoms such as barking cough (RR = 4.80; 95% CI: 2.73-8.44), wheezing without cold (RR = 3.83; 95% CI: 1.18-12.43), sore throat (RR = 1.96; 95% CI: 1.38-2.78), ear infection (RR = 1.82; 95% CI: 1.03-3.23), cough irrespective of respiratory infections (RR=1.27; 95% CI: 1.07-1.52), and cough without cold (RR = 1.72; 95% CI: 1.02-2.92). The exposure to PAHs also had impact on the duration of respiratory symptoms. The effect of PAHs exposure on the occurrence of such symptoms as runny nose or cough was partly modified by the simultaneous exposure to postnatal passive smoking. The analysis performed for the duration of respiratory symptoms confirmed significant interaction between PAHs exposure and postnatal ETS for runny or stuffy nose (RR = 1.82; 95% CI: 1.57-2.10), cough (RR = 1.18; 95% CI: 0.99-1.40), difficulty in breathing (RR = 1.39; 95% CI: 1.01-1.92) and sore throat (RR = 1.74; 1.26-2.39). Obtained results support the hypothesis that prenatal exposure to immunotoxic PAHs may impair the immune function of the fetus and subsequently may be responsible for an increased susceptibility of newborns and

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

Associations of Household Wealth and Individual Literacy with Prenatal Care in Ten West African Countries.

Science.gov (United States)

Taylor, Yhenneko J; Laditka, Sarah B; Laditka, James N; Huber, Larissa R Brunner; Racine, Elizabeth F

2016-11-01

Objective To examine associations of household wealth and individual literacy with prenatal care in West Africa. Methods Data on women with recent births in Benin, Burkina Faso, Ghana, Guinea, Liberia, Mali, Nigeria, Niger, Senegal and Sierra Leone were obtained from 2006 to 2010 Demographic and Health Surveys (n = 58,512). Separate logistic regressions estimated associations of literacy and wealth quintiles with prenatal care, controlling for age, parity, marital status, rural/urban residence, religion, multiple births, pregnancy wantedness, and the woman's involvement in decision-making at home. Any prenatal care was defined by ≥1 prenatal care visit. Adequate prenatal care was defined as at least four prenatal care visits beginning in the first trimester, at least one with a skilled provider. Results Seventy-eight percent of women had any prenatal care; 23 % had adequate care. Women who were not literate had lower odds of having any prenatal care (odds ratio, OR 0.29; 95 % confidence interval, CI 0.26-0.33) and lower odds of adequate care (OR 0.73, CI 0.68-0.78). Women in the poorest wealth quintile were substantially less likely to have any prenatal care than women in the wealthiest quintile (OR 0.24, CI 0.11-0.18), and less likely to have adequate care (OR 0.31, CI 0.27-0.35). Conclusions for Practice A substantial percentage of women in West Africa have no prenatal care. Few have adequate care. Illiteracy and poverty are important risk factors for having little or no prenatal care. Increasing education for girls, promoting culturally appropriate messages about prenatal care, and building trust in providers may increase prenatal care.