The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy

摘要

BackgroundThe implementation of molecular karyotyping has resulted in an improved diagnostic yield in the genetic diagnostics of congenital anomalies, detected prenatally or after the termination of pregnancy. However, the systematic epidemiologic ascertainment of copy number variations in the etiology of congenital anomalies has not yet been sufficiently explored.