Abstract:
:In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appears to predict increased risk of trisomy.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Neugut RH,Lustenberger A,Nicholas A,Kline J,Warburton Ddoi
10.1002/pd.1970070910subject
Has Abstractpub_date
1987-11-01 00:00:00pages
667-9issue
9eissn
0197-3851issn
1097-0223journal_volume
7pub_type
杂志文章abstract::Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a potentially devastating condition, which may lead to intracranial haemorrhage (ICH) in the fetus or neonate, often with death or major neurological damage as consequence. In the absence of screening, preventive measures are only possible in the next pregnancy...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2779
更新日期:2011-07-01 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
pub_type: 杂志文章
doi:10.1002/pd.4777
更新日期:2016-03-01 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:OBJECTIVES:To develop a reliable and specific technique for rapid prenatal diagnosis of Down syndrome. METHODS:High throughput real-time PCR technique was used to measure the DSCR3 gene dosage of genomic DNAs from uncultured amniocytes of fetuses, lymphocytes of trisomy 21 syndrome patients, and normal people, compare...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.968
更新日期:2004-09-01 00:00:00
abstract::Maternal contamination of fetal DNA represents a major problem when highly sensitive molecular techniques are used in the prenatal diagnosis of genetic diseases. For this reason, we have studied the possibility of using DNA isolated from syncytiotrophoblast vesicles as a target of gene amplification (PCR). Three PCR s...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130504
更新日期:1993-05-01 00:00:00
abstract::Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 20p and monosomy 4...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050308
更新日期:1985-05-01 00:00:00
abstract::We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary d...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199612)16:12<1137::AID-PD9
更新日期:1996-12-01 00:00:00
abstract::An aneuploid fetus was detected prenatally by cordocentesis at 27 weeks' gestation following ultrasonographic diagnosis of severe fetal growth retardation and a large diaphragmatic hernia. The fetal karyotype was revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bloods confirmed a balanced reciprocal tr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-08-01 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:OBJECTIVES:To assess the incidence of sex chromosome aneuploidy (SCA) predicted by noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS:We identified suspected cases of SCA by reviewing results...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5039
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVES:To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples. METHODS:A review of 10 years of karyotype results for miscarriages products indicated that 2....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2424
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:The cerebroplacental ratio (CPR) is a semi-quantitative marker for fetal brain-sparing. Our purpose was to measure the CPR at the time of treatment with selective laser photocoagulation of communicating vessels in gestations with twin-twin transfusion syndrome (TTTS) to test its association with neurological ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4713
更新日期:2016-01-01 00:00:00
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...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD97
更新日期:1996-10-01 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
pub_type: 杂志文章
doi:10.1002/pd.407
更新日期:2002-09-01 00:00:00
abstract::We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long ar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131111
更新日期:1993-11-01 00:00:00
abstract::An unusual case of apical diverticulum complicated by serous pericardial effusion and diagnosed ultrasonographically at 13 weeks of gestation is described. A therapeutic abortion was induced at 14 weeks and the complete post-mortem examination did not show additional malformation. Cardiac diverticulum is a rare malfor...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150817
更新日期:1995-08-01 00:00:00
abstract::In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, R...
journal_title:Prenatal diagnosis
pub_type:
doi:
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4278
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVES:A case of prenatally diagnosed trisomy 11 mosaicism with a normal outcome is reported and the medical literature on prenatal detection of this finding is reviewed. METHODS:Proportion of cells with trisomy 11 was evaluated in amniocytes, fetal blood lymphocytes, newborn fibroblasts and urinary epithelial cel...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1501
更新日期:2006-09-01 00:00:00
abstract::Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5769
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVES:The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of anal atresia (AA) in fetuses referred for congenital anomalies of kidney and urinary tract (CAKUT) malformation. METHODS:During a 3-year study period, 245 fetuses r...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4472
更新日期:2014-12-01 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 the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART). METHOD:This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5836
更新日期:2020-10-02 00:00:00
abstract::The articles collected together in this issue describe first-trimester screening for a variety of complications. With the advance of both technology and research, early pregnancy screening is becoming ever more sophisticated and complex. While there are clear benefits to most women receiving early reassurance that the...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2687
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal-appearing fetuses. METHODS:A retrospective review of 470 patients referred to our unit for FR from January 2007-Ma...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4213
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutro...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2599
更新日期:2010-10-01 00:00:00
abstract::Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970080309
更新日期:1988-03-01 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::Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 mult...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110204
更新日期:1991-02-01 00:00:00
abstract::Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.3863
更新日期:2012-04-01 00:00:00