Analysis of Cell-Free DNA in Maternal Blood in Screening for Aneuploidies: Meta-Analysis

被引：104

作者：

Gil, M. M. ^{[1
]}

Akolekar, R. ^{[1
,2
]}

Quezada, M. S. ^{[1
]}

Bregant, B. ^{[1
]}

Nicolaides, K. H. ^{[1
]}

机构：

[1] Kings Coll Hosp London, Harris Birthright Res Ctr Fetal Med, London SE5 9RS, England

[2] Medway Maritime Hosp, Fetal Med Unit, Gillingham, Kent, England

来源：

FETAL DIAGNOSIS AND THERAPY | 2014年 / 35卷 / 03期

关键词：

Cell-free fetal DNA; Non-invasive prenatal testing; Trisonny; 21; Trisomy; 18; 13; Turner syndrome; Fetal aneuploidy; NONINVASIVE PRENATAL-DIAGNOSIS; FETAL NUCHAL TRANSLUCENCY; WEEKS GESTATION RELATION; TRISOMY NIFTY TEST; FREE BETA-HCG; CHROMOSOMAL ANEUPLOIDIES; TWIN ZYGOSITY; DOWN-SYNDROME; PLASMA; RISK;

D O I：

10.1159/000358326

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis in screening for aneuploidies and to explore the potential use of this method in clinical practice. Methods: Searches of PubMed and MEDLINE were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between 2011, when the first such study was published, and 20 December 2013. Results: Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.0% (95% CI 98.2-99.6) and 0.08% (95% CI 0.03-0.14), respectively, for trisomy 21; 96.8% (95% CI 94.5-98.4) and 0.15% (95% CI 0.08-0.25) for trisonny 18; 92.1% (95% CI 85.9-96.7) and 0.20% (95% CI 0.04-0.46) for trisomy 13; 88.6% (95% CI 83.0-93.1) and 0.12% (95% CI 0.05-0.24) for monosomy X, and 93.8% (95% CI 85.9-98.7) and 0.12% (95% CI 0.02-0.28) for sex chromosome aneuploidies other than nnonosomy X. For twin pregnancies, the DR was 94.4% (95% 74.2-99.0) and the FPR was 0% (95% CI 0.00-1.84) for trisomy 21. Conclusion: An analysis of cfDNA in maternal blood provides effective screening for trisomies. (C) 2014 S. Karger AG, Basel

引用

页码：156 / 173

页数：18

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