Integrated chromosomal microarray analysis and whole-exome sequencing in prenatal diagnosis of congenital hearts disease with maternal diabetes: a novel insight into gene environment interaction

Concurrent implementation of CMA and WES substantially enhances diagnostic yield in prenatal CHD detection associated with maternal diabetes. Our data demonstrates significant gene-environment interactions wherein maternal hyperglycemia potentiates phenotypic expression of cardiac developmental gene variants, elucidating pathogenetic mechanisms and supporting individualized risk stratification.