A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results.

Bu X, Zhou S, Li X, et al. Front Genet. 2022;13:965106. Published 2022 Sep 19. doi:10.3389/fgene.2022.965106. Open Access: Learn more

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

  • Study of 626 women with positive NIPT results.
  • PPVs were 81.13% for T21, 37.93% for T18, 18.42% for T13, 48.83% for SCAs, 18.37% for RATs, and 41.67% for microdeletion and microduplication syndromes (MMS).
  • “Additional reporting of RATs and MMS with routine NIPS that only detects T21/T18/T13 and SCAs can yield more accurate diagnoses.”