妊娠相关血浆蛋白A联合游离人绒毛膜促性腺激素、胎儿颈项透明层筛查唐氏综合征的meta分析

A meta-analysis of screening Down's syndrome with maternal pregnancy associated plasma protein-A combined with free beta human chorionic gonadotropin and fetal nuchal translucency in the first trimester

目的：系统评价妊娠相关血浆蛋白-A（PAPP-A）联合游离人绒毛膜促性腺激素（F-βHCG）、胎儿颈项透明层（NT）在孕早期筛查唐氏综合征的价值.方法：按照系统评价的方法,计算机检索Medline （PubMed）、EMBase、Cochrane library、万方数据库、中国知网（CNKI）和中国生物医学文献光盘数据库（CBM）发表的中英文文献,根据纳入和排除标准选择合格的文献进行方法学质量评价,并摘录数据;采用Meta Disc 1.4软件对数据进行异质性检验和meta分析,计算合并效应量.结果：符合条件的文献共12篇,累计唐氏综合征患儿783例,正常婴儿213 943例.这12项研究不存在阈值效应异质性和非阈值效应异质性,汇总的灵敏度为88％（95％CI：0.86～ 0.90）,特异度为95％（95％CI：0.95～ 0.95）,AUC为0.97,阳性似然比为19.17（95％CI：16.8～ 21.9）.结论：当假阳性为5％时,该筛查方法的灵敏度为88％,在唐氏综合征早期筛查中具有较高的应用价值.

Objective： To systematically evaluate the value of screening Down＇s syndrome （DS） with pregnancy associat- ed plasma protein-A （PAPP-A） combined with free beta chorionic gonadotropin （F-~]hCG） and fetal nuchal translucen- cy （NT） in the first trimester. Methods： According to the method of systematic review, articles related to serum PAPP-A and F-13HCG levels as well as NT in the first trimester were searched in databases, such as MEDLINE （PubMed）, EMBase, Cochrane library, Wangfang, CNKI and CBM. Meta Disc 1.4 software was used for heterogenei- ty test and meta-analysis. Results： Twelve studies were included for this meta-analysis, including 783 cases of DS and 213 943 controls. Threshold effect heterogeneity and non-threshold effect heterogeneity were not found in twelve articles. The results of pooled sensitivity, specificity, AUC and positive likelihood ratio were 88% （95% CI.. 0.86-0.90）, 95% （95% CI： 0.95-0.95）, 0.97, and 19.17 （95%CI： 16.8-21.9）, respectively. Conclusion.. When the false positive is 5 %, the sensitivity of this screening method is 88 %, suggesting that this method has high value of screening DS.