Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.

abstract：:We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcer...

journal_title：Prenatal diagnosis

authors： Smidt-Jensen S,Lind AM,Permin M,Zachary JM,Lundsteen C,Philip J

更新日期：1993-08-01 00:00:00

abstract：:Fetal surgery has become a clinical reality, with interventions for twin-to-twin transfusion syndrome (TTTS) and spina bifida demonstrated to improve outcome. Fetal imaging is evolving, with the use of 3D ultrasound and fetal MRI becoming more common in clinical practise. Medical imaging analysis is also changing, wit...

journal_title：Prenatal diagnosis

authors： Pratt R,Deprest J,Vercauteren T,Ourselin S,David AL

更新日期：2015-12-01 00:00:00

abstract：OBJECTIVES:To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. METHODS:Plasma samples were prospectively collected from 84 pregnant w...

journal_title：Prenatal diagnosis

authors： Bauer M,Hutterer G,Eder M,Majer S,Leshane E,Johnson KL,Peter I,Bianchi DW,Pertl B

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVE:To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS:Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirat...

journal_title：Prenatal diagnosis

authors： Cochrane L,Ainscough M,Alfirevic Z

更新日期：2003-12-30 00:00:00

abstract：OBJECTIVES:To describe women's preferences for prenatal testing outcomes and to explore their association with sociodemographic characteristics and attitudes. METHODS:We conducted a cross-sectional study of 584 racially/ethnically and socioeconomically diverse pregnant women aged 16 to 47 years recruited from 23 San F...

journal_title：Prenatal diagnosis

authors： Kuppermann M,Nease RF Jr,Gates E,Learman LA,Blumberg B,Gildengorin V,Washington AE

更新日期：2004-06-01 00:00:00

abstract：OBJECTIVE:To describe the prognosis of subtle findings on fetal brain imaging in pregnant women with primary CMV infection during pregnancy. METHODS:This was a retrospective study. The data included: timing of infection, amniocentesis results, imaging findings, obstetric outcome, and developmental assessment. RESULTS...

journal_title：Prenatal diagnosis

authors： Roee B,Adi W,Michael B,Igal W,Karina KH,Liat BS,Gustavo M

更新日期：2020-03-01 00:00:00

abstract：OBJECTIVE:To validate Illumina's two-channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial aberrations. METHODS:A total of 162 plasma samples, previously sequenced for NIPT on a SOLiD 5500xl platform, were sequenced on the NextSeq 500 using 75-bp single-end...

journal_title：Prenatal diagnosis

authors： Neveling K,Tjwan Thung D,Beulen L,van Rens-Buijsman W,Gomes I,van den Heuvel S,Mieloo H,Derks-Prinsen I,Kater-Baats E,Faas BH

更新日期：2016-03-01 00:00:00

abstract：BACKGROUND:An initial study of trisomy 21 cases showed that prior to 10 weeks, maternal serum levels of intact hCG in the early first trimester are lower than normal. Here we further study the levels prior to and after 10 weeks of gestation to further establish whether or not the intact hCG is effective as a very early...

journal_title：Prenatal diagnosis

authors： Spencer K,Cowans NJ,Uldbjerg N,Vereecken A,Tørring N

更新日期：2008-12-01 00:00:00

abstract：:We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...

journal_title：Prenatal diagnosis

authors： Abrams DJ,Aronoff AR,Ann Berend S,Roa BB,Shaffer LG,Geier MR

更新日期：2001-08-01 00:00:00

abstract：OBJECTIVE:To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing. METHODS:Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleot...

journal_title：Prenatal diagnosis

authors： Coppinger J,Alliman S,Lamb AN,Torchia BS,Bejjani BA,Shaffer LG

更新日期：2009-12-01 00:00:00

abstract：OBJECTIVE:A common concern of utilizing prenatal advanced genetic testing is that a result of uncertain clinical significance will increase patient anxiety. However, prenatal ultrasound may also yield findings of uncertain significance, such as 'soft markers' for fetal aneuploidy, or findings with variable prognosis, s...

journal_title：Prenatal diagnosis

authors： Richards EG,Sangi-Haghpeykar H,McGuire AL,Van den Veyver IB,Fruhman G

更新日期：2015-12-01 00:00:00

abstract：:Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...

journal_title：Prenatal diagnosis

authors： Sagi M,Meiner V,Reshef N,Dagan J,Zlotogora J

更新日期：2001-06-01 00:00:00

abstract：:Maternal serum free beta (hCG) levels are elevated (median 2.20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta an...

journal_title：Prenatal diagnosis

authors： Macri JN,Spencer K,Aitken D,Garver K,Buchanan PD,Muller F,Boue A

更新日期：1993-07-01 00:00:00

abstract：OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...

journal_title：Prenatal diagnosis

authors： Bilagi A,Burke DL,Riley RD,Mills I,Kilby MD,Katie Morris R

更新日期：2017-07-01 00:00:00

abstract：:Following the birth of a baby girl confirmed to be homozygous normal for the delta F508 deletion causing cystic fibrosis (CF), many single-gene defects have been diagnosed by polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD). A few misdiagnoses have been reported but no large-scale studies ha...

journal_title：Prenatal diagnosis

authors： Ray PF,Ao A,Taylor DM,Winston RM,Handyside AH

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:Low levels of maternal serum pregnancy associated plasma protein-A (PAPP-A) have been linked to chromosome anomalies such as trisomy 21, 13 and 18, triploidy and sex chromosome aneuploidy. Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whet...

journal_title：Prenatal diagnosis

authors： Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger A

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVES:To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE:An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities c...

journal_title：Prenatal diagnosis

authors： Beaujard MP,Jouannic JM,Bessières B,Borie C,Martin-Luis I,Fallet-Bianco C,Portnoï MF

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVES:The aims of this study were (1) to assess the accuracy of estimated fetal weight (EFW) in twins and (2) to assess the accuracy of sonographic examination to predict birth weight discordance (BWD). METHODS:We retrospectively analyzed collected data on twin pregnancies between 2004 and 2007. All twin pregnanc...

journal_title：Prenatal diagnosis

authors： Diaz-Garcia C,Bernard JP,Ville Y,Salomon LJ

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier...

journal_title：Prenatal diagnosis

authors： Hernandez-Nieto C,Alkon-Meadows T,Lee J,Cacchione T,Iyune-Cojab E,Garza-Galvan M,Luna-Rojas M,Copperman AB,Sandler B

更新日期：2020-04-01 00:00:00

abstract：:Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...

journal_title：Prenatal diagnosis

authors： Bruch JF,Metezeau P,Garcia-Fonknechten N,Richard Y,Tricottet V,Hsi BL,Kitzis A,Julien C,Papiernik E

更新日期：1991-10-01 00:00:00

abstract：OBJECTIVE:Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. MATERIALS AND METHODS:The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before d...

journal_title：Prenatal diagnosis

authors： Centini G,Rosignoli L,Scarinci R,Faldini E,Morra C,Centini G,Petraglia F

更新日期：2005-02-01 00:00:00

abstract：:Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...

journal_title：Prenatal diagnosis

authors： Zlotogora J,Granat M,Knowlton RG

更新日期：1994-02-01 00:00:00

abstract：:Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...

journal_title：Prenatal diagnosis

authors： Donnenfeld AE,van de Woestijne J,Craparo F,Smith CS,Ludomirsky A,Weiner S

更新日期：1991-04-01 00:00:00

abstract：OBJECTIVE:This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the underlying mechanism that allows for such statistical modeling. METHODS:Autosomal regional read counts from whole-genome massively parallel single-end sequencing ...

journal_title：Prenatal diagnosis

authors： Kim SK,Hannum G,Geis J,Tynan J,Hogg G,Zhao C,Jensen TJ,Mazloom AR,Oeth P,Ehrich M,van den Boom D,Deciu C

更新日期：2015-08-01 00:00:00

abstract：:Based on the presence of immature cells in fetal blood, and in an attempt to shorten the cytogenetic reporting time, three simultaneous one-day culture regimes were established in 23 fetal blood samples: (a) the standard phytohemagglutinin (PHA)-stimulated lymphocytes culture, (b) a culture using the granulocyte-macro...

journal_title：Prenatal diagnosis

authors： Costa D,Borrell A,Jou JM,Besón I,Soler A,Carrió A,Margarit E,Caballín R,Ballesta F,Fortuny A

更新日期：1999-01-01 00:00:00

abstract：OBJECTIVES:The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell an...

journal_title：Prenatal diagnosis

authors： Colah R,Surve R,Nadkarni A,Gorakshakar A,Phanasgaonkar S,Satoskar P,Mohanty D

更新日期：2005-05-01 00:00:00

abstract：:A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of perip...

journal_title：Prenatal diagnosis

authors： Kim HJ,Perle MA,Bogosian V,Greco A

更新日期：1986-05-01 00:00:00

abstract：:A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...

journal_title：Prenatal diagnosis

authors： Ning Y,Laundon CH,Schröck E,Buchanan P,Ried T

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...

journal_title：Prenatal diagnosis

authors： Simovich MJ,Yatsenko SA,Kang SH,Cheung SW,Dudek ME,Pursley A,Ward PA,Patel A,Lupski JR

更新日期：2007-12-01 00:00:00

abstract：OBJECTIVE:To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols. METHODS:Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The ...

journal_title：Prenatal diagnosis

authors： Borrell A,Gonce A,Martinez JM,Borobio V,Fortuny A,Coll O,Cuckle H

更新日期：2005-10-01 00:00:00