4: Have genomic screening advances gone far enough?

Advances in genomics have expanded the screening modalities available in pregnancy. Expanded carrier screening (ECS) is used to identify couples with reproductive risks for autosomal recessive (AR) and X-linked (XLR) disorders, and cell-free fetal DNA prenatal multigene screening (cffMGS) is available to detect de novo single base pair mutations noninvasively. We sought to determine the ability of ECS and cffMGS individually and in combination to detect genetic syndromes identified in a cohort of fetuses with congenital anomalies.

Source: American Journal of Obstetrics and Gynecology - December 25, 2018 Category: OBGYN Authors: Jessica L. Giordano, Russell Miller, Brynn Levy, David Goldstein, Ronald J. Wapner Tags: Oral Plenary I Source Type: research