Abstract:
:Single umbilical artery is among the most common funicular vascular anomalies. In contrast, umbilical artery stenosis is rare, and has only been reported in three-vessel cords. We describe a case of single umbilical artery stenosis in a fetus with no associated malformations. Intrauterine fetal death occurred at 28 weeks' gestation following cordocentesis and intravascular transfusion for Rhesus alloimmunization. Single umbilical artery stenosis may place the fetus at increased risk, particularly in cases requiring interventions involving cord manipulation.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Meir K,Yagel S,Amsalem H,Ariel Idoi
10.1002/pd.316subject
Has Abstractpub_date
2002-03-01 00:00:00pages
186-8issue
3eissn
0197-3851issn
1097-0223pii
10.1002/pd.316journal_volume
22pub_type
杂志文章abstract:OBJECTIVE:To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). METHODS:This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5159
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5752
更新日期:2020-09-01 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
abstract:OBJECTIVE:To report the outcome of transient abnormal cardiac flow patterns (ABCFP) at 13 to 17 weeks' gestation. METHODS AND RESULTS:Observational single operator study of transvaginal sonography scans of 13,183 fetuses. Of the 22 fetuses with ABCFP (1:600) high pulmonary valvular velocity was detected in 11 (8 of th...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3836
更新日期:2012-05-01 00:00:00
abstract::Authors of policy statements from the American College of Obstetricians and Gynecologists and from the Society for Maternal-Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy statements were published in ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5209
更新日期:2018-02-01 00:00:00
abstract::A method is described to combine the ultrasound marker nuchal translucency (NT) with serum markers so that they can be used together in prenatal screening for Down syndrome in twin pregnancies. For monochorionic twin pregnancies (taken as monozygous), the two fetus-specific NT measurements are averaged before risk is ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.627
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported. METHODS:A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2137
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVES:Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. METHODS:A cross-...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1218
更新日期:2005-08-01 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::Second trimester amniotic fluid fibrinolytic system was examined in normal pregnancies and those complicated by anencephaly, spina bifida and fetal chromosome abnormalities. No significant difference was demonstrated between the fibrinolytic systems from normal pregnancies and those complicated by fetal chromosome abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030212
更新日期:1983-04-01 00:00:00
abstract::We report a case of nuchal cystic hygroma with spontaneous resolution detected by ultrasound examination at 13 weeks' gestation. Fetal karyotype and amniotic fluid alpha-fetoprotein levels were normal. Extreme caution in evaluating this situation is stressed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100607
更新日期:1990-06-01 00:00:00
abstract:OBJECTIVE:To investigate perinatal outcomes of fetal echogenic bowel (FEB). METHOD:This is a retrospective observational study of FEB cases from Jan 2005-Dec 2010. Data from ultrasound and fetal medicine investigations, uterine artery Doppler (UAD), intra-partum care and neonatal outcome were obtained from Fetal Medic...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3898
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVES:To assess the factors associated with utilization of genetic counseling services among pregnant Israeli Arab women. METHODS:A case-control study was conducted among 414 pregnant Arab women who were referred by a family physician or a perinatologist to genetic counseling services between 2008 and 2011. Data ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4550
更新日期:2015-04-01 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::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::Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafè-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseudarthrosis, and malignancy. Since disease causing mutations are dispersed t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<719::aid-pd895>3.0.c
更新日期:2000-09-01 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:OBJECTIVES:To display and compare the different published formulae that specify the association between maternal age and the risk of a Down syndrome live birth. METHODS:Papers published since 1987 on the prevalence of Down syndrome live births in relation to maternal age were located using MEDLINE and the references g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.568
更新日期:2003-03-01 00:00:00
abstract::The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100206
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVES:To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort. METHODS:Analyses of fetal SCTs from a population-based congenital anomaly register between 1995 and 2012, linked to regional datasets. A systematic literature...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4641
更新日期:2015-11-01 00:00:00
abstract::There are a number of potential biochemical markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and beta2-microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.212
更新日期:2001-11-01 00:00:00
abstract::Second trimester screening for fetal Down syndrome and trisomy 18 is available through separate protocols that combine the maternal age-specific risk and the analysis of maternal serum markers. We have determined the extent to which additional Down syndrome affected pregnancies may be identified through trisomy 18 scr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD:Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5028
更新日期:2017-05-01 00:00:00
abstract::A single umbilical artery was seen in 10 out of 117 cytogenetically abnormal pregnancies. The abnormal karyotypes found to be associated with a single umbilical artery were trisomy 18 (n = 5), monosomy X (n = 2), triploidy (n = 1), sex chromosome (47,XYY; n = 1) and translocation (46t(X,5)(q13p15);n = 1). With the exc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121118
更新日期:1992-11-01 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
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Between February 1994 and February 1997 a group of 881 women completed a questionnaire on the use of folic acid. During the study period the percentage of women who had been informed about the benefits of folic acid rose from 41 per cent to 90 per cent and the percentage taking supplementation rose from 18 per cent to...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::An extra small chromosome detected in amniotic fluid was identified as the product of a translocation [46,XX,t(9;15)(p24;q11.2)]. This case is unusual in that individuals with the unbalanced karyotype resulting from a 3:1 disjunction are phenotypically normal. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091205
更新日期:1989-12-01 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::Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prena...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5102
更新日期:2018-01-01 00:00:00
abstract::Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and au...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.65
更新日期:2001-05-01 00:00:00