Abstract:
OBJECTIVE:Enrichment of circulating trophoblasts (CTs) from maternal blood at week 11-13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX-1 Liquid Biopsy System in terms of CT recovery and purity. METHOD:Eight mililiter of blood was collected from 15 pregnant women and processed with the VTX-1 Liquid Biopsy System. Y-chromosome specific quantitative PCR was performed to estimate the number of enriched male CTs. To evaluate the VTX-1 performance, the target cell recovery was characterized by spiking experiments with a trophoblast cell line. Furthermore, the total quantity of DNA after enrichment was used to calculate the number of retained maternal cells. RESULTS:Successful recovery of male CTs was established in 7 out of 10 first trimester samples from pregnant women carrying a male fetus. The number of CTs, recovered from 8 ml of blood, was estimated between two and six. Spiking experiments resulted in a CT recovery of ±35 % with ±1524 retained maternal blood cells. CONCLUSION:CTs can be enriched from maternal blood with high purity, using laminar microscale vortices, starting from 8 ml of blood.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Vander Plaetsen AS,Weymaere J,Tytgat O,Buyle M,Deforce D,Van Nieuwerburgh Fdoi
10.1002/pd.5901subject
Has Abstractpub_date
2021-01-12 00:00:00eissn
0197-3851issn
1097-0223pub_type
杂志文章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:OBJECTIVE:Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy. METHODS:Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indicat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2410
更新日期:2010-01-01 00:00:00
abstract::Cytomegalovirus (CMV) is the most common cause of congenital infection with approximately 0.5% of pregnant women in developed countries seroconverting during pregnancy. In utero transmission occurs in about one third of women who develop primary infection in the first trimester, and these fetuses are at risk for adver...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.4497
更新日期:2015-01-01 00:00:00
abstract::Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970110510
更新日期:1991-05-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS:A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization re...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.817
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. METHODS:Prevalence was estimated u...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2588
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:This study assessed decisional conflict about invasive prenatal testing among women pregnant after infertility. METHODS:We surveyed 180 pregnant women with a history of infertility using a mixed methods cross-sectional design. Difficulty in deciding whether to have prenatal testing was measured using the Dec...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2529
更新日期:2010-06-01 00:00:00
abstract::Non-mosaic trisomy 9 was found in a chorionic villus (CV) sample taken from a 43-year-old woman referred for prenatal chromosome analysis due to advanced maternal age. Follow-up amniocentesis revealed level 2 mosaicism for trisomy 9. Trisomy 9 was not detected at fetal blood sampling. Molecular analysis of fetal (amni...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200011)20:11<930::aid-pd955>3.0.
更新日期:2000-11-01 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::Amniotic fluid samples received for routine prenatal diagnosis of open neural tube defects were used for a study to compare amniotic fluid acetylcholinesterase (AChE) determination using a monoclonal antibody (4F19) enzyme antigen immunoassay and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests f...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970130204
更新日期:1993-02-01 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 if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. METHODS:One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echog...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.295
更新日期:2002-03-01 00:00:00
abstract::Based on 9350 pregnant Japanese women who were screened by serum triple-marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r = 0.98) between the predicted risks and the preva...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:Abnormal maternal serum analytes (pregnancy associated plasma protein A, total human chorionic gonadotropin, alpha fetoprotein, Inhibin A, and unconjugated estriol) measured as part of aneuploidy screening programs have been associated with adverse obstetrical outcomes in euploid pregnancies. This study aimed...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4281
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies. METHOD:This is a multicenter retrospective study on women with twin pregnancies assessed for ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,多中心研究
doi:10.1002/pd.4623
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVES:To present the prenatal diagnosis of mosaic distal 5p deletion and a review of the literature. CLINICAL SUBJECT AND METHODS:A 37-year-old woman, gravida 2, para 1, underwent genetic amniocentesis at 17 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes reveale...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.794
更新日期:2004-01-01 00:00:00
abstract::A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5 micrograms/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures. ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970030315
更新日期:1983-07-01 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:OBJECTIVE:Complications in pregnancy are suggested to be the result of intrauterine conditions in the first trimester of pregnancy. Three-dimensional ultrasound volume measurements might give more information, compared with two-dimensional measurements. Commonly available methods for volume measurements are not suited ...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章
doi:10.1002/pd.3900
更新日期:2012-08-01 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::The objective was to describe the development, characteristics, and initial use of an instrument for assessing knowledge about maternal serum screening (MSS). Items for a knowledge scale were selected based on a review of educational materials, the literature, and expert opinion. Items were pre-tested for comprehensib...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199605)16:5<425::AID-PD874
更新日期:1996-05-01 00:00:00
abstract:OBJECTIVE:This study aimed to determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations. METHODS:Women with complicated monochorionic gestations complicated by...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5059
更新日期:2017-06-01 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::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:BACKGROUND:Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS:Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirm...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1386
更新日期:2006-03-01 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:OBJECTIVE:Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenat...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5752
更新日期:2020-09-01 00:00:00
abstract::Most of cystic fibrosis (CF) pre-implantation genetic diagnosis (PGD) cases described to date are limited to the detection of DeltaF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation-based PGD protocol impracticable. This is the reason why we, as we...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.924
更新日期:2004-07-01 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::We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long ar...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970131111
更新日期:1993-11-01 00:00:00