International Journal of Academic Health and Medical Research (IJAHMR)   Year: 2020 | Volume: 4 | Issue: 12 | Page No.: 25-34 To Identify the Congenital Heart Defects and Structural Malformations of the Heart before Birth Tayyaba Bashir, Hina Younis, Zahra Farhat Malik Abstract: The presented study identifies rare and common CNV risk factors for non-syndromic obstructive congenital heart defects. It is important to use the most up to date genomic surveillance technology to identify pathogenic structural variants. The presented study utilizes the Illumina Omni5-Exome array which contains ~4.5 million SNP probes which assisted in the discovery of rare and common CNV risk factors with better genomic resolution than previous studies. To assist in the evaluation of rare CNV risk factors, a CNV annotation pipeline for non-syndromic congenital heart defects was assembled. Furthermore, we interrogated the impact of CNVs on known topology associated domains in non-syndromic congenital heart defects and our control population. Lastly, the relationship between multiallelic CNVs and non- syndromic congenital heart defects risk was explored.