Abstract:
:Thirty perinatal solid tissue samples were used in a pilot study to test the efficacy of collagenase disaggregation onto coverslips, open system culture under low O2 conditions, pre-harvest incubation in bromodeoxyuridine (BrdU) and colcemid, and in situ automated harvesting. Following the success of the pilot study, the new method was applied to a further 126 consecutive diagnostic samples making a total of 156. The method reduced average tissue culture times from 17 to 8.7 days (range 2-17), improved success rates from 76 to 88 per cent, and simultaneously increased the resolution of cytogenetic analysis.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Fisher AM,Cockwell AE,Moore KJ,Gregson NM,Campbell PL,Campbell CM,Herbert A,Barber JC,Crolla JAdoi
10.1002/(SICI)1097-0223(199607)16:7<615::AID-PD920subject
Has Abstractpub_date
1996-07-01 00:00:00pages
615-21issue
7eissn
0197-3851issn
1097-0223pii
10.1002/(SICI)1097-0223(199607)16:7<615::AID-PD920journal_volume
16pub_type
杂志文章abstract::Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the k...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970070207
更新日期:1987-02-01 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::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: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:BACKGROUND:The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1772
更新日期:2007-08-01 00:00:00
abstract:OBJECTIVES:Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies. METHODS:This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4983
更新日期:2017-02-01 00:00:00
abstract::In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, R...
journal_title:Prenatal diagnosis
pub_type:
doi:
更新日期:2001-01-01 00:00:00
abstract::Deficiency of amylo-1,6-glucosidase activity was expressed in parallel in liver and skin fibroblasts from a patient with type III glycogenosis. In crude extracts of control liver and muscle, amylo-1,6-glucosidase (M.W. 164000) was identified by immunoprecipitation; no cross-reacting material was found in the patient's...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030104
更新日期:1983-01-01 00:00:00
abstract::We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040507
更新日期:1984-09-01 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:OBJECTIVE:To evaluate the association between echogenic appearing lungs on ultrasonographic examination of the fetus and aneuploidy. METHODS:Cases in which echogenic lungs were prospectively identified on ultrasonographic examination were collected. Other abnormal ultrasonographic findings were documented, as were pat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1112
更新日期:2005-03-01 00:00:00
abstract::Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.5769
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVES:To present prenatally detected mosaic tetrasomy for distal chromosome 15q and a review of the literature. CLINICAL SUBJECT AND METHODS:Amniocentesis was performed at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed mosaicism for an analphoid supernumerary marker chromosome...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.977
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVES:To determine the impact on maternal anxiety of detecting a soft marker, and the association between anxiety and the information given during the scan. METHODS:Routine 20-week fetal anomaly scans were audiotaped in the obstetric ultrasound unit of a London teaching hospital, across a four month study period....
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.373
更新日期:2002-07-01 00:00:00
abstract::This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes usin...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
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...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
abstract::A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.734
更新日期:2003-12-15 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
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:Discussion of isolated ultrasound (US) markers for fetal aneuploidy can provoke significant patient anxiety. The objective of this study is to quantify maternal anxiety associated with the detection of these markers. METHODS:All patients undergoing routine second-trimester US examination for fetal anatomical...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1618
更新日期:2007-01-01 00:00:00
abstract::Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970100702
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS:Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All pati...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5266
更新日期:2018-06-01 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:OBJECTIVE:To evaluate the potential of maternal serum A Disintegrin And Metalloprotease 12-S (ADAM12s) as an additional marker for the combined test in the Dutch first-trimester national Down syndrome (DS) screening program. METHODS:Serum samples were collected between 2004 and 2007 as part of the national program. A ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2300
更新日期:2009-09-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress. METHOD:Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as intubation and mechanical ventilatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5002
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study is to validate the diagnostic accuracy of a non-invasive prenatal test for detecting trisomies 13, 18, and 21 for a population in Germany and Switzerland. METHODS:Random massively parallel sequencing was applied using Illumina sequencing platform HiSeq2000. Fetal aneuploidies were...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4278
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVE:The objective of this article is to estimate whether the maternal serum levels of A disintegrin and metalloprotease domain 12 (ADAM12-s), pregnancy-associated plasma protein-A (PAPP-A), and free beta human chorionic gonadotrophin (fβ-hCG) are altered in assisted reproduction techniques (ART) pregnancies. MET...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4764
更新日期:2016-02-01 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::We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.143
更新日期:2001-10-01 00:00:00
abstract::An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131007
更新日期:1993-10-01 00:00:00