Abstract:
:Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Pérez-Cerdá C,Merinero B,Jiménez A,García MJ,Sanz P,Ijlst L,Wanders RJ,Ugarte Mdoi
10.1002/pd.1970130616subject
Has Abstractpub_date
1993-06-01 00:00:00pages
529-33issue
6eissn
0197-3851issn
1097-0223journal_volume
13pub_type
杂志文章abstract::The presence of two independent translocations in one person is rare. Herein, we report the prenatal diagnosis of two sibling fetuses with holoprosencephaly, whose father is a carrier of double translocations. The karyotype of the father is 46,XY, t(1;7) (q32;q32), t(14,15) (q32.1;q26.3). The two fetuses had variable ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.552
更新日期:2003-02-01 00:00:00
abstract::Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200008)20:8<615::aid-pd855>3.0.c
更新日期:2000-08-01 00:00:00
abstract::The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199905)19:5<424::aid-pd562
更新日期:1999-05-01 00:00:00
abstract:OBJECTIVE:To present the results of 10 years of quantitative fluorescence PCR (QF-PCR) analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This represents the largest QF-PCR data set from a single testing centre. METHODS:QF-PCR analysis using a single assay containing 17 microsatellite mar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3986
更新日期:2012-12-01 00:00:00
abstract::We present a case of congenital listeriosis in a twin pregnancy. Presentation was prompted by decreased fetal movements and an ultrasound examination which demonstrated features similar to those observed in an adult with inflammatory conditions of the bowel, namely, small amounts of ascites, dilated loops of bowel and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(1998100)18:10<1075::aid-pd
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVE:This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test characteristics. METHOD:A discrete choice experiment was developed to assess preferences for prenatal tests that differed in seven attributes: minimal gestational age, tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4571
更新日期:2015-06-01 00:00:00
abstract::Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in spe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5038
更新日期:2018-01-01 00:00:00
abstract::Intrauterine dilation of critical fetal aortic stenosis (AS) and pulmonary stenosis or atresia has the potential to change the natural course of these congenital heart defects preventing progression to a single ventricle circulation. This article reviews the world experience in fetal cardiac interventions. In carefull...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2810
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:Fetoscopic endoluminal tracheal occlusion (FETO) may improve outcome of severe isolated congenital diaphragmatic hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5060
更新日期:2017-09-01 00:00:00
abstract::Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200011)20:11<930::aid-pd955>3.0.
更新日期:2000-11-01 00:00:00
abstract::Chemical and biochemical studies were performed on two unrelated fetuses affected with Niemann-Pick disease type A, following abortion at about the 19th week of gestation. Abortion was performed as a consequence of previous findings, in amniotic fluid cell cultures, that sphingomyelinase activity was completely absent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970020306
更新日期:1982-07-01 00:00:00
abstract::Coelocentesis was performed in 20 singleton pregnancies at 6-10 weeks of gestation and 2-13 days before planned termination. The control group consisted of 100 women who were also undergoing planned termination and were matched with the study group for maternal age and gestation. During the follow-up period, there wer...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/(sici)1097-0223(199710)17:10<913::aid-pd17
更新日期:1997-10-01 00:00:00
abstract:OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4432
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVES:(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. METHODS:Using population-based data of the Paris Registry of Co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2883
更新日期:2011-12-01 00:00:00
abstract::The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6-12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eig...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130705
更新日期:1993-07-01 00:00:00
abstract:OBJECTIVES:To identify expressed sequence tag (EST) clusters preferentially expressed in placentas. METHODS:The National Center for Biotechnology's online UniGene database contains 14 placenta libraries. In silico (computer-based) subtraction compared placenta libraries against the remaining libraries to identify tran...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.608
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that free fetal DNA (ffDNA) circulating in maternal plasma originates mainly from the placenta we studied ffDNA levels in anembryonic pregnancies. METHODS:Maternal blood samples were collected from 15 normal first-trimester pregnancies in which fetal sex was subsequently determined and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1700
更新日期:2007-05-01 00:00:00
abstract::Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091005
更新日期:1989-10-01 00:00:00
abstract::Mosaicism in 4-8-cell human embryos analysed by fluorescence in situ hybridisation (FISH) has been widely reported, but few studies have addressed the incidence of mosaicism in more advanced embryonic stages. In the present study we analysed spare human embryos in a case of preimplantation genetic diagnosis (PGD) for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:The objective of the study is to examine the incidence of chromosomal or genetic abnormalities in pregnancies complicated by polyhydramnios and to assess the value of prenatal ultrasound findings in the prediction of cases associated with such disorders. METHODS:We searched the prenatal records of all patien...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4851
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:This study explores the underlying values and beliefs that guide women's reasoning on prenatal genetic test (PGT) uptake, as framed by their own words, during a group discussion, in a Catholic country such as Italy. METHODS:Women's reasoning was explored by means of five focus group consisting of seven pregn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3990
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3896
更新日期:2012-08-01 00:00:00
abstract::Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1970101204
更新日期:1990-12-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the longitudinal changes in uterine artery Doppler pulsatility index (UtA-PI) in pregnancies complicated with early onset intrauterine growth restriction (IUGR). METHOD:Case-control study comparing UtA-PI from 20 to 34 weeks gestation in pregnancies affected by IU...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4476
更新日期:2014-12-01 00:00:00
abstract::Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by severe nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin K16 cause fragility of specific epithelia resulting in phenotypes of ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-10-01 00:00:00
abstract::We have evaluated the effect of maternal intravenous immunoglobulin G (ivIgG) treatment on platelet counts in fetal alloimmune thrombocytopenia. Seven patients were studied. All of them were multiparous women who had been immunized against the HPA-1a antigen during previous pregnancies and had given birth to at least ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199606)16:6<495::AID-PD899
更新日期:1996-06-01 00:00:00
abstract:OBJECTIVES:To study the clinical, emotional and moral difficulties that French midwives encounter in the labor ward while performing termination of pregnancy (TOP) for fetal abnormality. SETTING:Six public maternity hospitals located in the Ile de France region, two of which were referral centers for prenatal diagnosi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1755
更新日期:2007-07-01 00:00:00
abstract::Blood collected from 62 fetuses aged 20-38 weeks of gestation was studied. The values of ten lipid parameters were determined: cholesterol (TC), triglycerides (TGs), apolipoprotein A1 (apo A1), apolipoprotein B (apo B), apolipoprotein E (apo E), total apolipoprotein CIII (apo CIII), apolipoprotein CIII present in part...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150305
更新日期:1995-03-01 00:00:00
abstract::A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.734
更新日期:2003-12-15 00:00:00
abstract::We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1098
更新日期:2005-02-01 00:00:00