Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.

Wang J, Zhang B, Zhou L, Zhou Q, Chen Y, Yu B. Front Genet. 2021;12:665589. Published 2021 Jul 16. doi:10.3389/fgene.2021.665589. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, Review / Meta-Analysis, 2021, International, CNVs

  • “Among the 24,613 pregnant women who received NIPS, 124 (0.50%) were suspected to have fetal CNVs. Of these, 66 women underwent prenatal diagnosis with CMA and 13 had true-positive results. The positive predictive value (PPV) of NIPS for fetal CNVs was 19.7%. Among 1,161 women who did not receive NIPS and underwent prenatal diagnosis by CMA, 47 were confirmed to have fetal pathogenic CNVs. Retesting with NIPS indicated that 24 of these 47 cases could also be detected by NIPS, representing a detection rate (DR) of 51.1%.”
  • “10 publications, namely, six retrospective studies and four prospective studies, met our criteria and were selected for a detailed full-text review. The reported DRs were 61.10-97.70% and the PPVs were 36.11-80.56%. The sizes of CNVs were closely related to the accuracy of NIPS detection. The DR was 41.9% (13/31) in fetuses with CNVs ≤ 3 Mb, but was 55.0% (11/20) in fetuses with CNVs > 3 Mb.”