Abstract:
:This study was undertaken in an attempt to determine the significance of elevated maternal serum human chorionic gonadotropin (MShCG), in the presence of an otherwise normal screen with respect to fetal malformations, chromosomal aberrations, and pregnancy outcome. Targeted ultrasound findings and perinatal outcome of 298 women in whom serum hCG was > or = 2.5 MOM and who were screen-negative for Down syndrome (the study group) were compared with a control group of 229 women in whom serum hCG as well as the other parameters were within the normal range. Genetic amniocentesis was performed in 125 women from the study group. Ultrasonically detected malformations were significantly more frequent among the study group (12 vs. 1, P = 0.01). Pregnancy complications were similar in the two groups, with the exception of pre-eclampsia-toxaemia, which was significantly more frequent in the study group (5 vs. 0, P = 0.02). There was one case of an abnormal karyotype (47,XXY). Although genetic amniocentesis does not appear warranted, isolated elevated MShCG levels during the second trimester screening was associated with an increased risk of fetal anomalies detected by ultrasound and of toxaemia of pregnancy.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Fejgin MD,Kedar I,Amiel A,Ben-Tovim T,Chen R,Petel Y,Tepper Rsubject
Has Abstractpub_date
1997-11-01 00:00:00pages
1027-31issue
11eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199711)17:11<1027::AID-PD1journal_volume
17pub_type
杂志文章abstract:OBJECTIVE:This study aimed to determine if screening for preeclampsia could be improved between 20 and 24 weeks of gestation by uterine artery Doppler (UAD), biomarkers and lipid-related markers. METHOD:Women at high risk of preeclampsia according to obstetric and medical characteristics and history were prospectively...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4198
更新日期:2013-11-01 00:00:00
abstract::There is an increasing number of reports relating chorionic villus sampling (CVS) to transverse limb reduction defects or the oromandibular limb hypogenesis complex. In addition, a correlation has been established between the severity of the defect and the gestational age when CVS is performed. Several hypotheses have...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::Retinoblastoma susceptibility is an autosomal dominantly inherited cancer predisposition which also confers a life-long increased risk for various non-ocular malignancies. We developed a protocol for single cell detection of this disorder which enables its preimplantation genetic diagnosis as an alternative to prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-12-01 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::A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remark...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150113
更新日期:1995-01-01 00:00:00
abstract::A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110610
更新日期:1991-06-01 00:00:00
abstract:OBJECTIVE:An imbalance between angiogenic and antiangiogenic factors has been implicated in the pathogenesis and severity of preeclampsia. In this study, we evaluated serum levels of an angiogenic factor and an antiangiogenic factor - placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), respe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4432
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the effect of fetal sex on the accuracy of multiple formulas for sonographic estimation fetal weight (SEFW). METHODS:The cohort included all singleton live births recorded at a single medical center from January 2004 to September 2011. The accuracy of SEFW was compared bet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4482
更新日期:2014-12-01 00:00:00
abstract::A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the numbe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110912
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVES:To explore the effect of maternal rhesus status on first-trimester screening markers for Down syndrome. METHODS:We accessed a database of singleton pregnancies undergoing first-trimester genetic screen with maternal Rh status documented and pregnancy outcome information available. Excluded were cases of fet...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970
更新日期:2008-05-01 00:00:00
abstract::A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100310
更新日期:1990-03-01 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:OBJECTIVE:To determine the prenatal factors associated with the need for extracorporeal membrane oxygenation (ECMO) and neonatal survival in congenital diaphragmatic hernia (CDH). STUDY DESIGN:A retrospective cohort study of all cases of CDH seen in our center between 1998 and 2008. Prenatal ultrasound and neonatal re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2508
更新日期:2010-06-01 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::During the period 1987 through mid-1993, 118 490 chromosome analyses from amniocytes were performed at the Integrated Genetics Laboratories in Santa Fe, New Mexico (formerly Vivigen Laboratories). This report summarizes the data for all specimens submitted because of anomalies seen during ultrasound examination; this ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199602)16:2<109::AID-PD818
更新日期:1996-02-01 00:00:00
abstract::Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' ges...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121211
更新日期:1992-12-01 00:00:00
abstract::A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199908)19:8<780::aid-pd634
更新日期:1999-08-01 00:00:00
abstract::We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.394
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS:Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2138
更新日期:2008-12-01 00:00:00
abstract:OBJECTIVES:Our objective is to report long-term outcome after fetal cystoscopy for lower urinary tract obstruction (LUTO), as well as to investigate the accuracy of fetal cystoscopy in diagnosing the cause of bladder outlet obstruction. METHODS:This is a retrospective cohort study of all fetuses who underwent cystosco...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4771
更新日期:2016-04-01 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::Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in man...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2244
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVES:We aim to develop non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF) and determine costs and implications for implementation. METHODS:A next-generation sequencing assay was developed to detect ten common CF mutations for exclusion of the paternal mutation in maternal plasma. Using uptake data f...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4585
更新日期:2015-10-01 00:00:00
abstract::The relationship between first-trimester maternal serum Schwangerschafts protein 1 (SP1) and the karyotype of the pregnancy was examined in 692 women who underwent chorionic villus biopsy at 6-12 weeks. There were 30 pregnancies with abnormal karyotypes, consisting of 14 Down's syndrome (DS), eight trisomy 18, and eig...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130705
更新日期:1993-07-01 00:00:00
abstract::Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding...
journal_title:Prenatal diagnosis
pub_type: 信件
doi:10.1002/pd.5702
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to evaluate whether the measurement of the frontal space (FS) improves first trimester combined aneuploidy screening. METHODS:We have presented a retrospective study including 2D images of the nuchal translucency measurement of 300 euploid and 133 trisomic fetuses that were seen at t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4205
更新日期:2013-12-01 00:00:00
abstract::We have developed a two-colour immunocytochemical staining method for the detection of fetal and embryonic haemoglobin in erythroid cells. The method was applied to study these haemoglobin types in fetal red cells. Specimens from fetal blood (10 weeks), cord blood and fetal liver (14 weeks) as well as chorionic villus...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199811)18:11<1131::aid-pd4
更新日期:1998-11-01 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:OBJECTIVE:N-Acetyltransferase 2 (NAT2) is a phase II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines and aromatic amines. The present study was designed to investigate whether maternal NAT2 genetic polymorphisms are associated with fetal susceptibility to congenital heart diseases...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5516
更新日期:2019-10-01 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