Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.
OBJECTIVE To characterize rare autosomal trisomies (RATs) detected by genome-wide noninvasive prenatal testing (GW-NIPT), evaluate their clinical significance, and explore whether sequencing-derived parameters are associated with adverse pregnancy outcomes. METHODS This single-center retrospective cohort study includ...