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.

反复自然流产（RSA）和胎儿畸形的原因是多因素的，在大多数情况下尚不清楚。环境，孕产妇和遗传因素已被证明是造成这些缺陷的原因。全外显子测序（WES）被广泛用于检测与人类疾病相关的遗传变异，并且最近已成功用于揭示无法解释的反复自然流产（URSA）和胎儿畸形的遗传原因。在这里，我们回顾了当前的发现和诊断策略，以使用WES技术识别URSA和胎儿畸形的潜在致病突变，并建议进一步开发WES，以增进我们对这些疾病的了解并最终导致针对生殖疾病的针对性治疗。