Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.

Hu Y, Liu W, He G, Xu J, Peng Y, Wang J. J Assist Reprod Genet. 2022;39(1):267-279. doi:10.1007/s10815-021-02351-6. Learn more

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

  • Study cohort of 2,139 singleton pregnancies having expanded NIPT.
  • PPV for T21 and T18 was 100% for both conditions. PPV for CNVs >10 Mb and 5–10 Mb was 42.8% and 16.7%, respectively.