Clinical performance of non‐invasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies: A cohort study and a systematic meta‐analysis

摘要

Abstract Introduction 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. Material and methods 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. Results 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. Conclusions 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.