Cell-free fetal DNA testing and its correlation with prenatal indications.

Wang JW, Lyu YN, Qiao B, et al. BMC Pregnancy Childbirth. 2021;21(1):585. Published 2021 Aug 24. doi:10.1186/s12884-021-04044-5. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2021, China, RAAs, CNVs

  • Retrospective analysis of pregnant women with high-risk indications.
  • 189 (1.32%) positive NIPT results were identified and 113/189 (59.79%) were confirmed by invasive diagnostic testing. Abnormal serum screening was the most common indication, followed by advanced maternal age.
  • PPVs were 91.84% for T21, 68.75% for T18, 37.50% for T13, 66.67% for SCAs, 14.29% for other autosomal aneuploidy abnormalities, and 6.45% for CNVs.