Abstract:
:Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype--46,XX/46,XX,-14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Lambert I,Kemp J,Jackson J,Joyce H,Mann S,Kan A,Smith Adoi
10.1002/pd.1970140617subject
Has Abstractpub_date
1994-06-01 00:00:00pages
507-10issue
6eissn
0197-3851issn
1097-0223journal_volume
14pub_type
杂志文章abstract::Twin pregnancy has a disproportionate effect on perinatal mortality, being six times higher than for singleton gestations. The major threats to perinatal survival are from two very different pathological processes: spontaneous preterm delivery, and the interlacing clinical complications of monochorionicity. With the r...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:
更新日期:1997-12-01 00:00:00
abstract::The aim of the present study was to report the findings in 14 women with extremely high risk ('precious') pregnancies, 5 of whom had twins, who underwent elective third-trimester cytogenetic amniocentesis. There were no procedure-related complications, and all newborns weighed more than 2000 g and showed normal develo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199908)19:8<749::aid-pd619
更新日期:1999-08-01 00:00:00
abstract::Few reports concerning intrauterine shunting are available. We investigated the impact of this method. In order to evaluate intrauterine shunting and the complication rate for different indications, we sent a questionnaire to all German-speaking level 3 centres. In four level 3 centres, 52 intrauterine catheters were ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/pd.1970140910
更新日期:1994-09-01 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::The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.200
更新日期:2002-01-01 00:00:00
abstract::We report the prenatal diagnosis of a fetus with a de novo Robertsonian translocation: 45,XY,der(15;15)(q10;q10). Although Robertsonian translocations are common chromosomal rearrangements, those involving homologous chromosomes are infrequent. Since chromosome 15 is imprinted, uniparental disomy (UPD) is a concern wh...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.133
更新日期:2001-08-01 00:00:00
abstract::Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(sici)1097-0223(199703)17:3<255::aid-pd49>
更新日期:1997-03-01 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:OBJECTIVE:Ventriculomegaly (VM) is the most common brain anomaly in prenatal ultrasound (US) diagnosis. There is a general trend to perform fetal magnetic resonance imaging (MRI) when VM is severe (greater than 15 mm) and/or it is not isolated. The role of MRI is debated when VM is borderline (between 10 and 15 mm) and...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3896
更新日期:2012-08-01 00:00:00
abstract::We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and cho...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970121105
更新日期:1992-11-01 00:00:00
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 appe...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070910
更新日期:1987-11-01 00:00:00
abstract:OBJECTIVES:To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD:Fetuses with ultra...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5410
更新日期:2019-01-01 00:00:00
abstract::Fetal cardiac intervention was first proposed in the early 1990s to impact cardiac development and survival of fetuses with fetal aortic stenosis and evolving hypoplastic left heart syndrome (HLHS). Although initial attempts of fetal aortic valvuloplasty were unsuccessful and carried a high rate of morbidity and morta...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5631
更新日期:2020-03-01 00:00:00
abstract::In order to investigate whether systemic arteriovenous fistula occurring during the fetal period could induce pulmonary hypertension at birth, a fistula was surgically created between the carotid artery and jugular vein of fetal lambs at 120 days' gestation. Mean pressures in the left pulmonary artery, aorta, atrium a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.255
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVES:The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD:Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5152
更新日期:2017-11-01 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 objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS:Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestati...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.4293
更新日期:2014-03-01 00:00:00
abstract::Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140817
更新日期:1994-08-01 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::This study was designed to test the usefulness of the common definitions for maternal cell contamination, true mosaicism, and pseudomosaicism for amniotic fluid specimens processed by in situ culture and robotic harvesting. We prospectively studied 4309 consecutive amniotic fluid specimens processed with these methods...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120808
更新日期:1992-08-01 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::A prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four-chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdomina...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970140410
更新日期:1994-04-01 00:00:00
abstract::The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1.5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0.2 per cent in the last 500. In the remaining 1477 ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100206
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVE:Intact atrial septum or highly restrictive inter-atrial communication (I/HRAS) combined with either severe aortic stenosis (SAS) or hypoplastic left heart syndrome (HLHS), respectively, is associated with adverse outcome. This study focusses on changes in alveolo-septal lung parenchyma due to increased left a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4559
更新日期:2015-05-01 00:00:00
abstract::Measurement of the microvillar enzymes, gamma-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities h...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040405
更新日期:1984-07-01 00:00:00
abstract:OBJECTIVE:To reevaluate the efficiency of the 12 differentially methylated regions (DMRs) used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach, develop an improved version of the diagnostic formula and perform a larger validation study. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.3947
更新日期:2012-10-01 00:00:00
abstract::A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract::Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mo...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-06-01 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:Fetal cells cross the feto-maternal barrier and circulate in maternal peripheral blood; thus, this study aimed to show the relationship between clinical evidence in pregnancy and qualitative feto-maternal barrier changes. METHODS:The expression of fetal hemoglobin gamma chain messenger RNA (HbF-gamma mRNA) w...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1039
更新日期:2004-11-01 00:00:00