Abstract:
OBJECTIVES:To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS:We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS:In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. CONCLUSIONS:The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Bigi N,Faure JM,Coubes C,Puechberty J,Lefort G,Sarda P,Blanchet Pdoi
10.1002/pd.1973subject
Has Abstractpub_date
2008-09-01 00:00:00pages
796-9issue
9eissn
0197-3851issn
1097-0223journal_volume
28pub_type
杂志文章abstract:INTRODUCTION:Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS:Chromosomal karyotyping analysis was performed on cultured amniotic f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5553
更新日期:2019-11-01 00:00:00
abstract:BACKGROUND:The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1772
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVE:To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS:Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All pati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5266
更新日期:2018-06-01 00:00:00
abstract::Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oligosaccharides was identical with that obtained wi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060602
更新日期:1986-11-01 00:00:00
abstract::Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.689
更新日期:2003-10-01 00:00:00
abstract::The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.200
更新日期:2002-01-01 00:00:00
abstract::Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of beta hexosaminidase A (HEX A), characteristic of carriers of Tay-Sachs disease (TSD), while the father suffers from an adult-onset GM2 gangliosidosis (AOG) with severe HEX A deficiency. A...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970060303
更新日期:1986-05-01 00:00:00
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:OBJECTIVE:The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD:A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our inst...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4323
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5471
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the association of copy number variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities. METHODS:This was a retrospective cohort study of anomalous fetuses evaluated at a single fetal center, who underwent chromosomal microarray (CMA) te...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5202
更新日期:2018-01-01 00:00:00
abstract::We report the first molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. The proband had a classic but severe presentation with hypoketotic hypoglycaemia and acidosis, secondary mental retardation, and epilepsy, and HL deficiency was documented in cultured fibroblasts. We found him to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150807
更新日期:1995-08-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4623
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1254
更新日期:2005-11-01 00:00:00
abstract::This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::We report a case of prenatal ultrasound diagnosis of frontonasal dysplasia. This represents a very rare disorder involving the face (hypertelorism, median cleft lip, absence of the nasal tip) and often the central nervous system (CNS) (cranium bifidum occultum, ethmoidal cephalocele, agenesis of the corpus callosum). ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.287
更新日期:2002-05-01 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
pub_type: 杂志文章
doi:10.1002/pd.2148
更新日期:2008-12-01 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
pub_type: 杂志文章
doi:10.1002/pd.5634
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 00:00:00
abstract::The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology,...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1061
更新日期:2004-12-30 00:00:00
abstract::We report a fetus with spinal muscular atrophy type I, who presented with an increased nuchal translucency at 13 weeks' gestation. A review of the literature reveals additional cases of spinal muscular atrophy type I associated with increased nuchal translucency and suggests increased nuchal translucency may be an ear...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1999-06-01 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::Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<207::aid-pd27>3.0.co
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. METHOD:Chromosomal aneuploidies and submicroscopic copy...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4782
更新日期:2016-04-01 00:00:00
abstract::Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.419
更新日期:2002-09-01 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
pub_type: 杂志文章
doi:10.1002/pd.2371
更新日期:2009-12-01 00:00:00
abstract::A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS:A decision-analytic model was performed in couples with a third miscarria...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5005
更新日期:2017-03-01 00:00:00