Abstract:
OBJECTIVE:Cell-free DNA (cfDNA) screening for aneuploidy was clinically introduced in 2011. We aim to focus on the follow-up information from a single tertiary center undergoing genome-wide cfDNA screening to evaluate this technology. METHOD:A total of 32 431 cases were retrospectively reviewed. The screening was performed using a BGI protocol, and the cfDNA results were analyzed together with the pregnancy outcomes, confirmatory testing results, and ultrasound findings. RESULTS:Of the 32 431 cfDNA screening cases, successful follow-up was conducted in 287 (82.2%) cases with high-risk cfDNA results, 85 (94.4%) cases with copy number variation (CNV) and rare autosomal trisomy (RAT) results, and 26 060 (81.5%) cases with low-risk cfDNA results. Among them, 234 with high-risk cfDNA results chose invasive testing, revealing 169 true positive cases. In cases with CNV and RAT results, 45 cases underwent invasive diagnosis, revealing six pathogenic CNVs and three uniparental disomies. In cases with low-risk cfDNA results, three false negative cases were confirmed. CONCLUSION:Cell-free DNA screening appears to be effective in detecting the common autosomal aneuploidies, but one-third of our cohort with high-risk results rejected confirmatory testing. Our data provide information on the clinical experience of large-scale whole-genome cfDNA screening that has global relevance for the implementation of this technology.
journal_name
Prenat Diagnjournal_title
Prenatal diagnosisauthors
Liang D,Lin Y,Qiao F,Li H,Wang Y,Zhang J,Liu A,Ji X,Ma D,Jiang T,Hu P,Xu Zdoi
10.1002/pd.5328subject
Has Abstractpub_date
2018-09-01 00:00:00pages
755-764issue
10eissn
0197-3851issn
1097-0223journal_volume
38pub_type
杂志文章abstract:OBJECTIVES:To determine the prognostic value of fetal Doppler and echocardiographic parameters for neonatal survival up to 30 days after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHODS:Fetal echocardiography and outcome data of consecutive cases of TTTS trea...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4956
更新日期:2016-12-01 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:OBJECTIVE:The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses presenting with isolated or associated intrauterine growth restriction (IUGR). METHOD:We retrospectively included all fetuses with IUGR referred for prenatal testing a...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.5372
更新日期:2018-12-01 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::We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/(SICI)1097-0223(199604)16:4<345::AID-PD852
更新日期:1996-04-01 00:00:00
abstract::Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inheri...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.250
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:To compare the prognostic value of fetal serum α1-microglobulin with that of β2-microglobulin and cystatin C for postnatal renal function. METHOD:Retrospective study of α1-microglobulin, β2-microglobulin, and cystatin C in fetal serum from 126 fetuses with congenital abnormalities of the kidney and urinary t...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.4128
更新日期:2013-08-01 00:00:00
abstract::Sex chromosome aneuploidy (SCA), when detected in amniocentesis, is usually an unexpected result of a test carried out for another purpose. For most SCAs, the prognosis is milder and less predictable than trisomy 21, and therefore parents are faced with a difficult decision regarding the option of pregnancy terminatio...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.78
更新日期:2001-06-01 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::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: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:OBJECTIVE:To present fetal magnetic resonance imaging (MRI) ocular measurement ranges by gestational age (GA) in normal and growth-restricted fetuses. METHODS:A total of 298 pregnant women from the 18th to the 39th week of gestation were imaged using MRI. Ocular measurements including binocular distance (BOD), interoc...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2612
更新日期:2010-11-01 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::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::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::A case of combined partial mole and neural tube defect is presented. The detection of high levels of both maternal serum (MS) alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG) during the second trimester led to the ultrasonic demonstration of anencephaly, omphalocele, and partial mole. This is the first ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970120411
更新日期:1992-04-01 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::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:OBJECTIVE:To report a rare case of umbilical cord hemangioma and to discuss its association with vascular birthmarks. METHODS:A case of umbilical cord hemangioma diagnosed by ultrasound at 28 weeks of gestation is reported. After labor induction at 38 weeks of gestation, a male infant was born. Examination of the newb...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/pd.1109
更新日期:2005-04-01 00:00:00
abstract::The uptake of any screening test is influenced by knowledge of the condition being screened for. In the present study, the knowledge and the source of knowledge of women offered antenatal screening for Down syndrome (DS) was assessed by means of a self-administered questionnaire. The questionnaire was administered to ...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/1097-0223(200103)21:3<159::aid-pd20>3.0.co
更新日期:2001-03-01 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
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:OBJECTIVES:Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3). METHODS:High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative g...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1841
更新日期:2007-12-01 00:00:00
abstract::During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970040509
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVE:We theorized that a significant number of women would choose integrated screening (IS) over first trimester screening (FTS) and that demographic characteristics and baseline anxiety levels might predict which patients would choose each test. We also hypothesized that screening results might alter patients' fu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.2158
更新日期:2008-12-01 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::Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed pr...
journal_title:Prenatal diagnosis
pub_type: 杂志文章,评审
doi:10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd4
更新日期:1998-12-01 00:00:00
abstract::Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagn...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.370
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVES:Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give mo...
journal_title:Prenatal diagnosis
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/pd.1090
更新日期:2005-01-01 00:00:00
abstract::Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of flu...
journal_title:Prenatal diagnosis
pub_type: 杂志文章
doi:10.1002/pd.1970141104
更新日期:1994-11-01 00:00:00