Comparison of noninvasive prenatal screening for defined pathogenic microdeletion/microduplication syndromes and nonsyndromic copy number variations: a large multicenter study.

Yang L, Bu G, Ma Y, Zhao J, Rezak J, La X. J Comp Eff Res. 2022;11(17):1277-1291. doi:10.2217/cer-2022-0088. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2022, China, CNVs

  • Retrospective study of over 19,000 pregnancies with NIPT.
  • “The positive predictive value (PPV) of CNV-seq for all types of CNV detected by NIPT was 35.4%, with PPVs of 61.5 and 27.6% for pathogenic MMSs [microdeletion/microduplication syndromes] and nonsyndromic CNVs, respectively. PPVs for NIPT showed different values depending on gestational characteristics, with the highest PPV for NIPT in the group with increased nuchal thickness (66.7%) and for the abnormal ultrasound group (57.1%). CNVs ≤5 Mb with normal ultrasound findings were generally associated with a healthy fetus.”