Gil M M, Quezada M S, Revello R, Akolekar R, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
Ultrasound Obstet Gynecol. 2015 Mar;45(3):249-66. doi: 10.1002/uog.14791. Epub 2015 Feb 1.
To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies.
Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015.
In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%).
Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21.
回顾母血游离（cf）DNA分析的临床验证或实施研究，并确定筛查胎儿21、18和13三体以及性染色体非整倍体的性能。
检索PubMed、EMBASE和Cochrane图书馆，以识别2011年1月（首项此类研究发表之时）至2015年1月4日期间关于cfDNA检测用于非整倍体筛查的所有同行评审文章。
共识别出37项相关研究，并将其用于cfDNA检测筛查非整倍体性能的荟萃分析。这些研究报告了与侵入性检测的胎儿核型或临床结局相关的cfDNA结果。单胎妊娠中，21三体的加权合并检测率（DR）和假阳性率（FPR）分别为99.2%（95%CI，98.5 - 99.6%）和0.09%（95%CI，0.05 - 0.14%），18三体分别为96.3%（95%CI，94.3 - 97.9%）和0.13%（95%CI，0.07 - 0.20），13三体分别为91.0%（95%CI，85.0 - 95.6%）和0.13%（95%CI，0.05 - 0.26%），X单体分别为90.3%（95%CI，85.7 - 94.2%）和0.23%（95%CI，0.14 - 0.34%），非X单体性染色体非整倍体分别为93.0%（95%CI，85.8 - 97.8%）和0.14%（95%CI，0.06 - 0.24%）。双胎妊娠中，21三体的DR为93.7%（95%CI，83.6 - 99.2%），FPR为0.23%（95%CI，0.00 - 0.92%）。
通过分析母血中的cfDNA筛查21三体优于所有其他传统筛查方法，具有更高的DR和更低的FPR。筛查18和13三体以及性染色体非整倍体的性能明显不如筛查21三体。
