Gynecology & Obstetrics
Open Access
ISSN: 2161-0932
ISSN: 2161-0932
Xiaojian Xie
Indiana
Research Article
Detection of Copy Number Variants by Next-Generation Sequencing in Fetuses with Congenital Heart Disease
Author(s): Qichang Wu, Zhiying Su, Wen Bo Wang, Li Sun, Xiaohong Zhong, Yasong Xu, Liangkai Zheng and Xiaojian XieQichang Wu, Zhiying Su, Wen Bo Wang, Li Sun, Xiaohong Zhong, Yasong Xu, Liangkai Zheng and Xiaojian Xie
Objective: To report the molecular findings of 89 fetuses with prenatal ultrasound diagnosis of congenital heart disease (CHD) and a normal karyotype through next-generation sequencing (NGS) in an attempt to improve our understanding of submicroscopic abnormalities present in malformed fetuses.
Method: High-throughput NGS was carried out in fetal cord blood samples. All potential cytogenetic alterations detected on NGS platforms were matched against the known copy number variant (CNV) database.
Results: A total of 204 CNVs were identified in the entire population of 89 fetuses with CHD. Eleven cases had no deletions or duplications, five cases (5.6%) had pathogenic CNVs, 13 cases had CNVs that were likely to be pathogenic, 42 cases had CNVs of uncertain significance, and 18 cases had benign and/or likely benign CNVs. A.. View More»
DOI:
10.4172/2161-0932.1000351