Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies.

De Falco L, Savarese G, Savarese P, et al. Genes (Basel). 2023;14(5):982. Published 2023 Apr 26. doi:10.3390/genes14050982. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2023, Italy, RAAs, CNVs

  • Cohort of 1,244 twin pregnancy samples undergoing NIPT, of which 61.5% chose GW-NIPT for RAAs and CNVs in addition to common trisomies.
  • There were 29 high-risk results: 18 T21, one T18, 6 RAA, and 4 CNV cases. Clinical and diagnostic follow-up was available for 27/29 (93%) of these cases.
  • Clinical follow-up was available for 96.6% of low-risk cases; all were true negatives.