NATIONAL HARBOR, Md. -- Genome sequencing of the fetus and both parents in pregnancies with structural anomalies pinpointed a causative genetic variant in nearly a fifth of cases in a prospective ...

Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy ...

A congenital birth defect, also known as a congenital anomaly, is a condition that is present at birth due to structural deformities in the development of a fetus. Common examples of congenital birth ...