Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases

Abstract excerpt

ABSTRACT Objective To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES), pregnancy outcomes, and postnatal manifestations in KBG syndrome and to provide evidence for prenatal diagnosis and genetic counseling in at‐risk pregnancies. Methods A retrospective analysis was performed on the clinical data of 19 fetuses with KBG...