Abstract:
:We present a prenatal case with a 45,X,dic(Y;15) (q11.23;p11.1) karyotype and describe the inheritance pattern of the chromosome 15s. Chromosome 15 has an imprinted region and inheritance of both chromosome 15 from one parent results in either Angelman syndrome (AS) (paternal inheritance) or Prader Willi syndrome (PWS) (maternal inheritance). Parental chromosome studies revealed that the father carried the same dicentric (Y;15) translocation. Since familial chromosome rearrangements can result in aberrant chromosomal segregation during meiosis, we wanted to exclude paternal uniparental inheritance of chromosome 15. By using DNA microsatellite markers at several 15q11q13 loci, we determined that the fetus had inherited his normal non-translocated chromosome 15 from his mother.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
White LM,Treat K,Leff A,Styers D,Mitchell M,Knoll JHsubject
Has Abstractpub_date
1998-02-01 00:00:00pages
111-6issue
2eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199802)18:2<111::AID-PD224journal_volume
18pub_type
杂志文章abstract::Forty-seven twin pregnancies among 3676 patients who had a genetic amniocentesis between 1973 and 1979, are reported. The detection rate of twins at the time of amniocentesis was 62 per cent. Five (17 per cent) of the 29 women with detected twin pregnancy aborted spontaneously, these are compared with 1 (6 per cent) o...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030202
更新日期:1983-04-01 00:00:00
abstract::Prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (3-HAD) deficiency was performed in a family at risk. The diagnosis of an affected fetus was carried out by enzyme assay in cultured chorionic villus cells. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130616
更新日期:1993-06-01 00:00:00
abstract::To evaluate the potential utility of free beta (hCG) and beta-core (hCG) in a prenatal screening protocol for Down syndrome we analysed these markers in dried maternal urine specimens from 163 control, 13 Down syndrome and 5 trisomy 18 pregnancies from 8 to 25 weeks' gestation. All results are reported after normaliza...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199809)18:9<893::aid-pd362
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) plots, to identify deviations potentially related to a systematic CRL bia...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4996
更新日期:2017-03-01 00:00:00
abstract::Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromoso...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151106
更新日期:1995-11-01 00:00:00
abstract::A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascen...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100402
更新日期:1990-04-01 00:00:00
abstract:OBJECTIVE:To estimate the utility of maternal serum ADAM12 as a Down's syndrome marker. METHODS:Samples from 71 Down's syndrome affected pregnancies were retrieved from - 20 degrees C storage together with 710 controls matched for gestation and storage time. ADAM12 was measured prior to identification of the affected ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2043
更新日期:2008-10-01 00:00:00
abstract::Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.689
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to compare the levels of maternal serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) between pregnancies with fetal hemoglobin (Hb) Bart's disease and unaffected pregnancies. METHODS:Ninety-one pregnancies at risk for fetal Hb Bart's disease schedul...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4246
更新日期:2013-12-01 00:00:00
abstract::The purpose of our study was to assess the influence of intra-uterine insemination (IUI) on the results of maternal serum Down syndrome screening. 43 women with IUI pregnancies and 4507 healthy women who conceived were studied. Ovulation in IUI pregnancies was induced by clomiphene and/or human menopausal gonadotrophi...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199911)19:11<1012::aid-pd6
更新日期:1999-11-01 00:00:00
abstract:OBJECTIVE:To determine how parents of children with intellectual disabilities view prenatal testing and pregnancy termination for their child's condition. METHOD:We interviewed 201 English-speaking or Spanish-speaking caregivers of children aged 2 to 10 years. Primary outcomes were being disinclined to undergo prenata...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2880
更新日期:2011-12-01 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::Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structur...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.2396
更新日期:2010-02-01 00:00:00
abstract::Our laboratory has received 1375 early amniotic fluid (EA) specimens during the past 5-year period for cytogenetics analysis. The gestational ages of the EA specimens were less than 14 weeks as estimated by ultrasound. The average volume of specimen received was 16 ml. Specimens were typically received in two collecti...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130903
更新日期:1993-09-01 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::An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140605
更新日期:1994-06-01 00:00:00
abstract::We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in ut...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970151216
更新日期:1995-12-01 00:00:00
abstract:OBJECTIVES:To evaluate the association between absence of nasal bone on ultrasound and Down syndrome in fetuses at 11-14 weeks of pregnancy. METHODS:One hundred and ninety-four consecutive fetuses from singleton pregnancies undergoing chorionic villi sampling (CVS) were evaluated by transabdominal ultrasound. A sagitt...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.431
更新日期:2002-10-01 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::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:OBJECTIVE:To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. METHODS:We describe the case of a monochorionic (MC) diamniotic (DA)...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1746
更新日期:2007-07-01 00:00:00
abstract:OBJECTIVE:Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown-rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD:Retrospective cohort, women, singleton pregnancies (UK 2011-2015). Unadjusted and multivariable logistic regression. OUTCOM...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5069
更新日期:2017-07-01 00:00:00
abstract::Experience with three prenatally diagnosed pregnancies complicated by an acardiac twin reveals that ultrasonography and echocardiography are helpful in detecting early signs of in-utero congestive heart failure in the normal twin. The use of Doppler blood flow analysis to determine direction of blood flow, post-mortem...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110405
更新日期:1991-04-01 00:00:00
abstract:OBJECTIVES:To determine if the ultrasound marker Nuchal Index (NIx) is gestational age independent, and to determine its specificity and sensitivity for Down syndrome (DS) identification. METHODS:Prospective cohort. A prospective database of fetal biometry and soft markers of aneuploidy was searched for fetuses with t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.497
更新日期:2002-12-01 00:00:00
abstract:OBJECTIVES:Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5885
更新日期:2021-01-18 00:00:00
abstract::We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199907)19:7<677::aid-pd597
更新日期:1999-07-01 00:00:00
abstract:OBJECTIVE:Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases. METHOD:Diagnostic test...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5531
更新日期:2019-10-01 00:00:00
abstract::In a study of 70 cases of trisomy 18 and 450 matched controls in the second trimester we have measured the maternal serum levels of the analytes alpha feto protein (AFP), free beta-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A (PAPP-A). We have found the median multiple of the median (M...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide prenatal management. METHOD:Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demograp...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5054
更新日期:2017-07-01 00:00:00
abstract::Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS proce...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120307
更新日期:1992-03-01 00:00:00