Detection of Copy Number Variants by Next-Generation Sequencing in Fetuses with Congenital Heart DiseaseQichang Wu*, Zhiying Su, Wen Bo Wang, Li Sun, Xiaohong Zhong, Yasong Xu, Liangkai Zheng and Xiaojian Xie
Prenatal Diagnosis Center of Xiamen’s Maternal and Child Health Care Hospital, Xiamen City, Fujian Province 361000, PR China
- *Corresponding Author:
- Qichang Wu
Prenatal Diagnosis Center of Xiamen’s Maternal
and Child Health Care Hospital, Xiamen City
Fujian Province 361000, PR China
E-mail: [email protected]
Received date January 11, 2016; Accepted date January 20, 2016; Published date January 22, 2016
Citation: Wu Q, Su Z, Wang WB, Sun L, Zhong X, et al. (2016) Detection of Copy Number Variants by Next-Generation Sequencing in Fetuses with Congenital Heart Disease. Gynecol Obstet (Sunnyvale) 6:351. doi:10.4172/2161-0932.1000351
Copyright: © 2016 Wu Q, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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. All pathogenic CNVs were found only in fetuses with conotruncal heart defects. Conclusion: NGS can facilitate etiological diagnosis in a high proportion of fetuses with CHD and a normal karyotype and can be implemented as a diagnostic tool in the prenatal setting to complement karyotyping for evaluation of genomic defects in fetuses with CHD.