Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies.

Baranova EE, Sagaydak OV, Galaktionova AM, et al. BMC Pregnancy Childbirth. 2022;22(1):633. Published 2022 Aug 9. doi:10.1186/s12884-022-04966-8. Open Access: Learn more

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

  • “258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs).”
  • The most common RAAs were T7 (n=6), T16 (n=4), T8 (n=3) and T22 (n=3).

PPVs were 98.26% for T12, 91.67% for T18/13, 57.14% for SCAs, and 44.83% for RAAs/CNVs.