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Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects

Qiao, Fengchang; Hu, Ping; Xu, Zhengfeng

Current Opinion in Obstetrics and Gynecology: April 2019 - Volume 31 - Issue 2 - p 132–138
doi: 10.1097/GCO.0000000000000520
PRENATAL DIAGNOSIS: Edited by Jane Chueh
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Purpose of review Congenital heart defects (CHDs) are the most common type of birth defects, and are thought to result from genetic–environmental interactions. Currently, karyotype and chromosomal microarray analyses are the primary methods used to detect chromosomal abnormalities and copy number variations in fetuses with CHD. Recently, with the introduction of next-generation sequencing (NGS) in prenatal diagnosis, gene mutations have been identified in cases of CHD. The purpose of this review is to summarize current studies about the genetic cause of fetal CHD, paying particular attention to the application of NGS for fetuses with CHD.

Recent findings In addition to chromosomal abnormalities, gene mutations are an important genetic cause of fetal CHD. Furthermore, incidences of pathogenic mutations in fetuses with CHD are associated with the presence of other structural anomalies, but are irrelevant to the categories of CHD.

Summary Gene mutations are important causes of fetal CHD and NGS should be applied to all fetuses with normal karyotype and copy number variations, regardless of whether the CHD is isolated or syndromic.

Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, Jiangsu Province, China

Correspondence to Zhengfeng Xu, Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital, Nanjing, Jiangsu Province, China. Tel: +86 25 52226156; fax: +86 25 84461449; e-mail: zhengfeng_xu_nj@163.com

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