Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.

Zhu S, Jia C, Hao S, et al. Mol Genet Genomic Med. 2023;e2200. doi:10.1002/mgg3.2200 Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2023, China, RAAs, CNVs

  • Prospective study of over 25,000 pregnant women who had NIPS-PLUS. 415 individuals had positive results, including 275 indicating aneuploidy and 140 indicating microdeletion/microduplication syndromes (MMS).
  • Following amniocentesis, 188 were confirmed as true positives (including 41 cases of RATs and 57 MMS).
  • PPV was 25.63% for RATs, PPV was 44.66% for CNVs <5 Mb, PPV was 29.73% for CNVs >5 Mb.