Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center
Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 179 cases, followed by whole-exome sequencing (WES) to identify gen...