Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.

Liu S, Yang F, Chang Q, et al. Mol Cytogenet. 2022;15(1):29. Published 2022 Jul 6. doi:10.1186/s13039-022-00607-z. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2022, China, RAAs, CNVs

  • Retrospective study of women referred for invasive prenatal diagnosis following a positive NIPT results.
  • PPVs for trisomies 21, 18, and 13 were 86.1%, 57.8%, and 25.0%, respectively.
  • PPVs for rare chromosomal abnormalities and and CNVs were 17.0% and 40.4%, respectively.
  • A significant increase in true positives was seen in the high-risk groups compared to low- and moderate-risk groups.