Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting

Objective To validate and evaluate the performance metrics of the high‐throughput semiconductor sequencing platform, Ion Proton®, in non‐invasive prenatal genetic screening (NIPS) for common fetal aneuploidies in a clinical setting. Methods This prospective cohort study included 2505 pregnant women from eight academic genetics laboratories (695 high risk for trisomy 21 (risk ≥ 1/250) pregnancies in a validation study, and 1810 such pregnancies,...