Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

[published correction appears in Genet Med. 2022 Sep;24(9):1992]. Rose NC, Barrie ES, Malinowski J, et al. Genet Med. 2022;24(7):1379-1391. doi:10.1016/j.gim.2022.03.019. Open Access: Learn more

Tags: Review, 2022, International, RAAs, CNVs

  • 87 studies met inclusion criteria for this systematic evidence review, evaluating NIPT performance in a general-risk population.
  • Performance for RATs and CNVs was variable and poorer than for common trisomies. For RATs, this is likely related to the rarity of RATs and insufficient data to develop a method that can distinguish between clinically significant RATs present in the fetus versus CPM.
  • “Reported overall sensitivity to detect CNVs ranged from 69.44% to 80.56%. When stratified by CNV size, in general, the sensitivity to detect larger CNVs was better than for detecting smaller CNVs. The sensitivity to detect CNVs larger than 5 megabases (Mb) was >90%, whereas for those smaller than 5 Mb, it was 68.42%.”
  • NIPT is the only laboratory-based prenatal screen that can identify SCAs, RATs, and CNVs.