The clinical utility of genome-wide non invasive prenatal screening

Fiorentino F, Bono S, Pizzuti F, et al. Prenat Diagn. 2017;37(6):593-601. doi:10.1002/pd.5053.

Tags: Clinical Experience / Clinical Utility, 2017, Italy, RAAs, CNVs

  • This publication examined the test performance of NIPT for the common aneuploidies compared to that of Expanded NIPT. Expanded NIPT detected 7.4% potentially viable clinically relevant chromosome abnormalities that would have not been detected if NIPT was limited to the common aneuploidies, which resulted in a statistically significant higher sensitivity than did non-Expanded NIPT without a statistically significant impact on specificity.