Non-invasive prenatal testing as a prenatal screening test in pregnancies following assisted reproductive technologies: a diagnostic test accuracy systematic review and meta-analysis.

IMPORTANCE: The accuracy of the non-invasive prenatal testing (NIPT) for common trisomies remains unclear in pregnancies following assisted reproductive technology (ART), and the adoption of NIPT as a prenatal screening test in ART pregnancies has been cautious due to the absence of clear recommendations. OBJECTIVE: To estimate the accuracy of NIPT for screening for common chromosomal abnormalities compared with conventional karyotype or microarray testing in ART pregnancies. DATA SOURCE: A comprehensive search of the following: PubMed, Scopus, and Embase. STUDY SELECTION AND SYNTHESIS: A systematic review and meta-analysis was conducted, and cross-sectional and cohort studies with antenatal women who conceived following ART and opted for prenatal testing with NIPT were included. MAIN OUTCOME MEASURE (S): Pooled sensitivity and specificity of NIPT for common chromosomal abnormalities (trisomy 21, 18, and 13). RESULT (S): We identified a total of 548 records through electronic searches and finally included 13 studies for quantitative synthesis. The pooled sensitivity and specificity for combined abnormalities in singleton ART pregnancies were 88.2% (95% confidence interval, CI 61.0-97.3%) and 99.6% (95% CI 98.4-99.9%), respectively. Similarly, for twin ART pregnancies, the pooled sensitivity and specificity for combined abnormalities were 88.2% (95% CI 66.4-96.6%) and 99.8% (95% CI 99.6-99.9%), respectively. The pooled sensitivity and specificity for trisomy 21 in singleton ART pregnancies were 87.2% (95% CI 59.0-97.0%) and 99.7% (95% CI 98.8-99.9%), respectively, while in ART twin pregnancies, the pooled sensitivity was 86.9% (95% CI 63.4-96.2%) and the specificity was 99.8% (95% CI 99.6-99.9%). CONCLUSION AND RELEVANCE: While the specificity of NIPT is high in ART-conceived pregnancies, its sensitivity in the detection of common fetal chromosomal aneuploidy, in particular trisomy 21, is substantially lower than in naturally-conceived pregnancies.