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 whether low levels of first trimester PAPP-A are predictive of other adverse pregnancy outcomes. STUDY DESIGN:The study included patients with singleton pregnancies who underwent combined first trimester screening using nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotrophin (free beta-hCG) and PAPP-A at 10-13 weeks' gestation. Patients with chromosome aberrations or fetal anomalies were excluded. Serum marker levels were expressed as gestational age-specific multiples of the median (MoMs). The incidences of various adverse pregnancy outcomes (spontaneous preterm labor, fetal growth restriction (FGR), proteinuric and non-proteinuric pregnancy induced hypertension (PIH), intrauterine fetal demise, oligohydramnios, spontaneous miscarriage and placental abruption) were evaluated, according to maternal PAPP-A MoM levels. RESULTS:Of the 1622 patients in the study, pregnancy complications were observed in 184 (11.3%). Patients with PAPP-A < or =0.25 MoM had significantly higher rates of FGR (RR = 3.12), proteinuric PIH (RR = 6.09), spontaneous miscarriage (RR = 8.76). No statistically significant differences were noted for other adverse outcomes evaluated Women with PAPP-A < or =0.50 MoM also had significantly higher rates of FGR (RR = 3.30) and spontaneous miscarriage (RR = 3.78). CONCLUSIONS:We conclude that decreased levels of first trimester maternal serum PAPP-A are predictive not only of chromosome anomalies but also of adverse pregnancy outcome.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Yaron Y,Heifetz S,Ochshorn Y,Lehavi O,Orr-Urtreger Adoi
10.1002/pd.407subject
Has Abstractpub_date
2002-09-01 00:00:00pages
778-82issue
9eissn
0197-3851issn
1097-0223journal_volume
22pub_type
杂志文章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 examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program. METHOD:Two clinical algorithms were created: the first to represent the current screening progr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4311
更新日期:2014-04-01 00:00:00
abstract::We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.101...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1547
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:The discovery of placental transcripts in peripheral blood of pregnant women prompted us to investigate which was the most appropriate biological specimen, between plasma and serum, to easily detect them and to exploit hPL (human placental lactogen), betahCG (human chorionic gonadotrophin beta-subunit), LOC90...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2541
更新日期:2010-08-01 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: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::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:The aim of this research was to evaluate the performance of a predictive model for early onset preeclampsia (PE) during early gestation. METHOD:Prospective multicenter cohort study was performed in women attending 11-14 weeks ultrasound. Medical history and biometrical variables were recorded and uterine art...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4113
更新日期:2013-08-01 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 00:00:00
abstract::Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.727
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS:The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amnio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1401
更新日期:2006-03-01 00:00:00
abstract::Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970111007
更新日期:1991-10-01 00:00:00
abstract::Serum specimens were obtained by fetoscopy at 19-25 weeks' gestation from four fetuses whose mothers had had confirmed rubella earlier in pregnancy. They were tested for rubella-specific IgM by antibody capture radioimmunoassay. No specific IgM was detected in one fetus and a healthy infant was delivered at term. Spec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970050105
更新日期:1985-01-01 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::Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalitie...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199610)16:10<915::AID-PD96
更新日期:1996-10-01 00:00:00
abstract::Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its applicatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2945
更新日期:2012-04-01 00:00:00
abstract::Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract:OBJECTIVE:We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD:Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnan...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5693
更新日期:2020-06-01 00:00:00
abstract::Activity levels of total and placental alkaline phosphatase (AP) were determined in maternal serum and neutrophils of normal and Down syndrome pregnancies. The placental iso-enzyme (PAP) was identified by its relative stability to urea and heat. Significant increase in the activity of all iso-enzymes across gestationa...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:MicroRNAs (miRNAs) are used as biomarkers in cardiovascular disease and cancer. miRNAs are involved in placental development but have not previously been investigated in twin-twin transfusion syndrome (TTTS). Our aim is to explore the miRNA profile of TTTS pregnancies. METHOD:Initial miRNA profiling was perf...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5475
更新日期:2019-07-01 00:00:00
abstract::We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family history of congenital abn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199611)16:11<1046::AID-PD9
更新日期:1996-11-01 00:00:00
abstract:BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1386
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). METHOD:All prenatal ultrasounds that mentioned 'posterior cleft palate', or 'micro or retrognathia' or 'PRS' over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4619
更新日期:2015-09-01 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::Ataxia telangiectasia (AT) is a severe autosomal recessive disease, rare but not infrequent in Italy. Owing to the seriousness of the disease, prenatal diagnosis has been attempted in the past by means of cytogenetic, biochemical, radio-biological and indirect molecular analyses. We performed the first direct molecula...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199906)19:6<542::aid-pd586
更新日期:1999-06-01 00:00:00
abstract::Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.c
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:To determine the knowledge of pregnant women about prenatal tests, and what tests they would choose if offered. Also, the preference of pregnant women for second-trimester or first-trimester screening was assessed. PATIENTS AND METHODS:Pregnant women receiving antenatal care in a decentralized primary care s...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.358
更新日期:2002-07-01 00:00:00
abstract::Based on 9350 pregnant Japanese women who were screened by serum triple-marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r = 0.98) between the predicted risks and the preva...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract::Inexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970091008
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