Department of Clinical Laboratory, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Department of Obstetrics and Gynecology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Acta Obstet Gynecol Scand. 2020 Jun;99(6):731-743. doi: 10.1111/aogs.13842. Epub 2020 Apr 9.
The objective of this study was to report on the clinical performance of non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 in twin pregnancies and to define the performance of NIPT by combining our cohort study results with published studies in a systematic meta-analysis.
A cohort study was carried out in the First Affiliated Hospital of Sun Yat-sen University and Kanghua Hospital. Meanwhile, searches of PubMed, EMBASE, The Cochrane Library and Web of Science for all relevant peer-reviewed articles were performed with a restriction to English language publication before 15 June 2019. Quality assessments were conducted with the Quality Assessment Tool for Diagnostic Accuracy Studies-2 checklist. Data analysis, heterogeneity, subgroup analysis and publication bias were carried out using META-DISC 1.4 and STATA 12.0.
In all, 141 twin pregnancies included in our cohort study; confirmation revealed one true-positive case for trisomy 21 and 140 true-negative cases. The sensitivity and specificity for trisomy 21 by NIPT were both 100%. Twenty-two eligible studies were enrolled in this meta-analysis together with our study. There were 199 cases of trisomy 21, 58 cases of trisomy 18, 14 cases of trisomy 13 and 6347 cases of euploids in total. For trisomy 21, NIPT showed the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.99, 1.00, 145.81, 0.06 and 1714.09, respectively. For trisomy 18, the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.88, 1.00, 200.98, 0.19 and 483.68, respectively.
The performance of NIPT for trisomy 21 in twin pregnancy was excellent and it was similar to that reported in singleton pregnancy. However, due to publication bias (trisomy 18) and small number of cases (trisomy 13), accurate assessment of the predictive performance of NIPT for trisomies 18 and 13 could not be achieved.
本研究旨在报告非侵入性产前检测（NIPT）在双胞胎妊娠中用于检测 21、18 和 13 三体的临床性能，并通过系统的荟萃分析将我们的队列研究结果与已发表的研究相结合来定义 NIPT 的性能。
本研究在中山大学附属第一医院和康华医院进行了一项队列研究。同时，对 PubMed、EMBASE、The Cochrane Library 和 Web of Science 进行了检索，以获取截至 2019 年 6 月 15 日之前所有相关同行评审文章的英文文献，并进行了限制。使用 Quality Assessment Tool for Diagnostic Accuracy Studies-2 清单进行质量评估。使用 META-DISC 1.4 和 STATA 12.0 进行数据分析、异质性、亚组分析和发表偏倚。
本研究共纳入 141 例双胞胎妊娠，经证实，21 三体阳性 1 例，21 三体阴性 140 例。NIPT 对 21 三体的敏感性和特异性均为 100%。本荟萃分析共纳入 22 项符合条件的研究，其中包括我们的研究。共有 199 例 21 三体、58 例 18 三体、14 例 13 三体和 6347 例正常二倍体。对于 21 三体，NIPT 的汇总敏感性、特异性、阳性似然比、阴性似然比和诊断比值比分别为 0.99、1.00、145.81、0.06 和 1714.09。对于 18 三体，汇总敏感性、特异性、阳性似然比、阴性似然比和诊断比值比分别为 0.88、1.00、200.98、0.19 和 483.68。
NIPT 在双胞胎妊娠中用于 21 三体的性能非常出色，与单胎妊娠中的报道相似。然而，由于发表偏倚（18 三体）和病例数量较少（13 三体），无法准确评估 NIPT 对 18 三体和 13 三体的预测性能。
