Iwarsson Erik, Jacobsson Bo, Dagerhamn Jessica, Davidson Thomas, Bernabé Eduardo, Heibert Arnlind Marianne
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
Acta Obstet Gynecol Scand. 2017 Jan;96(1):7-18. doi: 10.1111/aogs.13047. Epub 2016 Dec 9.
The aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies.
Systematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model.
In a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999).
This is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
本研究旨在回顾无创产前检测（NIPT）在普通孕妇群体中检测21三体、18三体和13三体（T21、T18和T13）的表现，并更新高危妊娠的数据。
系统评价和荟萃分析。检索了PubMed、Embase和Cochrane图书馆。使用QUADAS对方法学质量进行评分，使用GRADE对科学证据进行评分。使用双变量随机效应模型计算诊断准确性的汇总指标。
在普通孕妇群体中，有中等证据表明，分析T21时合并敏感性为0.993（95%CI 0.955-0.999），特异性为0.999（95%CI 0.998-0.999）。由于研究数量较少，未计算该群体中T13和T18的合并敏感性和特异性。在高危孕妇群体中，有中等证据表明，T21和T18的合并敏感性分别为0.998（95%CI 0.981-0.999）和0.977（95%CI 0.958-0.987），有低等证据表明，T13的合并敏感性为0.975（95%CI 0.819-0.997）。所有三种三体的合并特异性为0.999（95%CI 0.998-0.999）。
这是首次使用GRADE进行的荟萃分析，表明NIPT作为普通孕妇群体中21三体的筛查方法表现良好。尽管与孕早期联合筛查相比假阳性率较低，但如果考虑终止妊娠，仍应建议女性通过侵入性检测来确认阳性结果。
