Abstract:
:The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/trisomy 20 mosaicism the termination of pregnancy may not be advised, however, the parents should be fully informed.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Bösze P,László J,Tóth Adoi
10.1002/pd.1970020312subject
Has Abstractpub_date
1982-07-01 00:00:00pages
225-7issue
3eissn
0197-3851issn
1097-0223journal_volume
2pub_type
杂志文章abstract::A reliable cost-effective protocol for the diagnosis of various defective genes in single blastomeres from preimplantation embryos has been established. Single cells were lysed in alkali buffer followed by neutralization and addition of a solution containing a high concentration of sulfhydryl reducing agents and MgCl(...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200012)20:12<979::aid-pd966>3.0.
更新日期:2000-12-01 00:00:00
abstract::Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. This disease is characterized by the presence of a high level of succinylacetone. This metabolite has been used for prenatal diagnosis from amniotic fluid samples. One case with a normal level of succinylaceton...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199901)19:1<61::aid-pd455>
更新日期:1999-01-01 00:00:00
abstract::A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Sp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1999-05-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS:We developed the control-free noninvasive fetal chromosomal ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5016
更新日期:2017-04-01 00:00:00
abstract::Enteric duplication cyst is a congenital abnormality that is believed to arise from abnormal recanalization of the bowel during embryogenesis. Previous reports suggest that the condition may be suspected prenatally by sonographic demonstration of an intra-abdominal cystic mass in the second and third trimesters. We pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.468
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to assess the performance of cardio-biparietal ratio measured by real-time two-dimensional ultrasound in predicting hemoglobin (Hb) Bart disease among fetuses at risk. METHOD:This prospective diagnostic study recruited pregnancies at risk for Hb Bart disease at 17 to 22 weeks' gesta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5478
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that the age-related increase in the birth prevalence of Down syndrome is less for women with higher levels of education due to their more frequent use of prenatal diagnosis. METHODS:We compared the effects of maternal age on the odds of Down syndrome at birth, and on amniocentesis use...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.749
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:To investigate the existence of a relationship between maternal body mass, maternal ethnicity and maternal smoking status and nuchal translucency (NT) in the first trimester of pregnancy. METHODS:NT measurements from 130 339 euploid, singleton pregnancies were converted to NT multiples of the median (MoM) an...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2713
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11-13 weeks' gestation in screening for preeclampsia (PE). METHODS:Serum PP13, PAPP-A and uterine artery pulsatility index (PI) were determined in a case-control study of 208 cases that developed PE including 48 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2375
更新日期:2009-12-01 00:00:00
abstract:OBJECTIVES:To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. METHODS:Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. RESULTS:All cells examined showed a 47, X...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.933
更新日期:2004-08-01 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::This study evaluates the long-term pulmonary complications of 25 children from a prospective, matched-control, pilot study evaluating short-term complications of early (11-14 weeks' gestation) versus traditional (15 weeks' gestation and later) genetic amniocentesis. Five children in the early amniocentesis group were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.1970140312
更新日期:1994-03-01 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::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::There are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2-q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We desc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070309
更新日期:1987-03-01 00:00:00
abstract:BACKGROUND:The use of preimplantation genetic diagnosis (PGD) to select genetically 'normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study eval...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.498
更新日期:2002-12-01 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::Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970150211
更新日期:1995-02-01 00:00:00
abstract::This report describes a case of a paternal balanced, but apparently non-reciprocal, insertion of chromosome 15 material into the short arm of chromosome 17 with difficulties in distinguishing between the normal and the deleted chromosome 15 in prenatal karyotype analysis. Microdissection and degenerate oligonucleotide...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-04-01 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::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::Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140211
更新日期:1994-02-01 00:00:00
abstract:BACKGROUND:Fetal cells in maternal blood still present an enticing alternative for the development of a safe and efficacious non-invasive method for prenatal diagnosis. However, most enrichment methods are very tedious and have failed to realise this long sought after goal. We developed a simple, robust TaqMan real-tim...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1521
更新日期:2006-09-01 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:To evaluate the population parameters applied to the calculation of risk for Down syndrome (DS) in the first trimester screening (FTS) and the comparison of performance obtained including or excluding maternal age from the mathematical algorithm. METHODS:Three different calculation engines for prenatal risk ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2937
更新日期:2012-03-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to establish the frequency and associations of single umbilical artery (SUA) diagnosed until the first vs second or third trimester. METHODS:A retrospective cohort study was conducted on singleton pregnancies at a tertiary perinatal center. All women underwent both the first and se...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5471
更新日期:2019-07-01 00:00:00
abstract::A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233
更新日期:1998-02-01 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 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: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