Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.

Wang W, Lu F, Zhang B, Zhou Q, Chen Y, Yu B. Orphanet J Rare Dis. 2022;17(1):253. Published 2022 Jul 8. doi:10.1186/s13023-022-02406-6. Open Access: Learn more

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

  • Among 50,972 NIPT results, 212 cases were positive for CNVs. 96 women subsequently had amniocentesis with CMA.
  • 37/96 cases were confirmed true positives for fetal CNVs (PPV 38.5%).
  • PPVs were 48.7% for CNVs <3 Mb, 41.4% for CNVs 3~5 Mb, 42.9% for CNVs 5~10 Mb, and 14.3% for CNVs >10 Mb.
  • Chromosomal location may be a main factor influencing PPV.