eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study

Congenital heart disease (CHD) is one of the most common birth defects affecting about 1-2 % of newborns globally and is classified as syndromic or isolated based on the presence of extracardiac malformations. In addition to the type of cardiac abnormality and associated extracardiac malformations, the overall prognosis of CHD also depends on the accurate molecular diagnosis. The most common genetic etiologies resulting in CHD include chromosomal aneuploidies, recurrent microdeletions/microduplications, as well as copy number variants.