Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Liang D, Cram DS, Tan H, et al. Genet Med. 2019;21(9):1998-2006. doi:10.1038/s41436-019-0467-4. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2019, China, RAAs, CNVs

  • This publication examined the clinical performance of Expanded NIPT for both aneuploidy and genome-wide microdeletion/microduplication syndromes in an all-risk pregnancy population. A cohort of 94,085 patients with singleton pregnancies were prospectively enrolled. This Expanded NIPT detected a clinically significant fetal chromosome abnormality in 1.2% of samples and calculated the respective PPVs for the screen positive abnormalities.