Xiaohui Zhu
Liying Yan
Jie Qiao
aCenter for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China
bKey Laboratory of Assisted Reproduction, Ministry of Education, Beijing 100191, China
cBeijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction, Beijing 100191, China
dBeijing Advanced Innovation Center for Genomics (ICG), Peking University, Beijing 100871, China
ePeking-Tsinghua Center for Life Sciences, Peking University, Beijing 100871, China
More InformationCorresponding author: E-mail address: yanliyingkind@aliyun.com (Liying Yan);E-mail address: jie.qiao@263.net (Jie Qiao)
Received Date: 2018-03-20
Accepted Date:2018-08-24
Rev Recd Date:2018-08-23
Available Online: 2018-10-22 Publish Date:2018-10-20
Abstract
Abstract
The causes of recurrent spontaneous abortion (RSA) and fetal malformations are multifactorial and unclear in most cases. Environmental, maternal, and genetic factors have been shown to contribute to these defects. Whole-exome sequencing (WES) is widely used to detect genetic variations associated with human diseases and has recently been successfully applied to unveil genetic causes of unexplained recurrent spontaneous abortion (URSA) and fetal malformations. Here, we review the current discovery and diagnosis strategies to identify the underlying pathogenic mutations of URSA and fetal malformations using WES technology and propose to further develop WES, both to advance our understanding of these diseases and to eventually lead to targeted therapies for reproductive disorders.Keywords: Whole exome sequencing (WES),
Unexplained recurrent spontaneous abortion (URSA),
Fetal malformations,
Human reproduction
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