Abstract:
:We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Webb AL,Sturgiss S,Warwicker P,Robson SC,Goodship JA,Wolstenholme Jdoi
10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97subject
Has Abstractpub_date
1996-10-01 00:00:00pages
958-62issue
10eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97journal_volume
16pub_type
杂志文章abstract::Late chorionic villus sampling (placental biopsy) under ultrasound guidance was carried out in 800 (80 per cent) cases in the second trimester and 200 (20 per cent) cases in the third trimester of pregnancy. Out of 1000 placental biopsies, 250 (25 per cent) were performed because of suspicious ultrasonographic finding...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199702)17:2<125::aid-pd43>
更新日期:1997-02-01 00:00:00
abstract::Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.370
更新日期:2002-08-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:We examined the psychological responses to termination of pregnancy (TOP) for fetal anomaly from both men and women. The aim was to find risk factors for poor psychological outcome both for the individuals and for the couple. METHODS:A cross-sectional study was performed in 151 couples 2-7 years after TOP. W...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1307
更新日期:2005-12-01 00:00:00
abstract::A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030406
更新日期:1983-10-01 00:00:00
abstract::Prenatal diagnosis of aneuploidies currently relies on invasive procedures such as chorionic villous sampling and amniocentesis. These methods can provide an accurate diagnosis of the fetal karyotype but are relatively invasive. Here, we report a case of the prenatal detection of triple X using fetal cells obtained by...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.582
更新日期:2003-07-01 00:00:00
abstract::Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040405
更新日期:1984-07-01 00:00:00
abstract::Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd4
更新日期:1998-12-01 00:00:00
abstract: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 regarding prenatal detectio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4525
更新日期:2015-04-01 00:00:00
abstract::A high resolution technique was applied to amniotic fluid cells by synchronization. After inoculation, the cells were incubated for 30 h in the presence of either thymidine or 5-bromodeoxyuridine (BrdU). After removal of the blocking agent and addition of a low concentration of thymidine, the cells were incubated for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970090107
更新日期:1989-01-01 00:00:00
abstract::Fetomaternal haemorrhage (FMH) was studied after 46 cordocenteses. alpha-Fetoprotein (AFP) concentration and Kleihauer staining of maternal blood, taken both before and after the procedure, revealed increases in AFP values of more than 40 per cent in 30 per cent of the patients examined; fetal haemorrhage of more than...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150403
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). METHODS:Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. RESULTS:Forty-seven neon...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4438
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5372
更新日期:2018-12-01 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
pub_type: 杂志文章
doi:10.1002/pd.1970060308
更新日期:1986-05-01 00:00:00
abstract::Prenatal diagnosis of cord defects by means of ultrasound examination is possible and highly accurate. Although this is a rare pathological finding, we report two cases in which umbilical cord pseudocysts were associated with trisomy 18. These observations underscore the need of umbilical blood sampling for establishi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080802
更新日期:1988-10-01 00:00:00
abstract::Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.924
更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:To assess the frequency of cytotrophoblastic cells in endocervical samples collected by lavage at early stages of gestation using a specific anti-HLA-G McAb (G233). From a set of four selected samples, cells identified by immunostaining were collected by laser microdissection and then tested by quantitative f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.511
更新日期:2003-01-01 00:00:00
abstract::In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data co...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110820
更新日期:1991-08-01 00:00:00
abstract::A lethal form of bone dysplasia, platylospondylic lethal chondrodysplasia, was diagnosed prenatally using three-dimensional ultrasound. The various types of three-dimensional imaging mode provided diagnostic details not available by conventional two-dimensional ultrasound. The diagnosis was made after referral in the ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150413
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening....
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.5053
更新日期:2017-06-01 00:00:00
abstract::Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we de...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2023
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4293
更新日期:2014-03-01 00:00:00
abstract::In this paper we report the fetal loss rate in relation to both maternal and gestational age in 1764 pregnant women who underwent transabdominal chorionic villus sampling (TA-CVS) between January 1986 and August 1990. The fetal loss rate, considered as a proportion of continuing pregnancies, decreased with advancing g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121007
更新日期:1992-10-01 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
pub_type: 杂志文章
doi:10.1002/pd.4615
更新日期:2015-08-01 00:00:00
abstract::In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1999-12-01 00:00:00
abstract::Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectru...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5724
更新日期:2020-08-01 00:00:00
abstract::A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascen...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100402
更新日期:1990-04-01 00:00:00
abstract:OBJECTIVE:To identify the correlation between the renal vascularization index (VI), the flow index (FI) and the vascularization and flow index (VFI) and placental and fetal hemodynamics in fetuses with growth restriction. METHOD:Bidimensional ultrasound and three-dimensional power Doppler with the VOCAL technique were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5099
更新日期:2017-08-01 00:00:00
abstract::Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.328
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVES:Prenatal diagnosis of critical congenital heart disease, which requires surgical or catheter intervention in the first 30 days of life, allows for delivery at a specialized center and can reduce preoperative morbidity and mortality. We sought to identify the risk factors for a missed prenatal diagnosis of cr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4622
更新日期:2015-09-01 00:00:00