The use of high-resolution SNP arrays to detect congenital cardiac defects.
Huang LinhuanCai DanleiHe ZhimingKong ShuChen JiayiPeng JiayiSu ChuqiYang YinghongWang DingXie YingjunLuo YanminPublished in: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2024)
In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.