减少出生缺陷是我国“健康中国2030”规划中的重要组成部分。遗传因素单独或协同作用导致了超过80%的出生缺陷疾病。与出生缺陷相关的遗传学研究可为临床筛查、诊断和治疗提供精准的分子靶标。我国的出生缺陷遗传学研究自20世纪60年代以来取得了长足的发展。同时,随着相关研究成果的不断涌现,以遗传咨询和检测为核心的临床转化工作也在不断深化和完善。基础研究与临床应用的紧密结合,将为我国孕育“健康孩”提供可靠的技术保障。本文首先回顾了我国出生缺陷遗传学研究的历史,继而介绍当前国内外出生缺陷遗传学研究的现状和热点,最后对未来的研究方向及相关的临床应用趋势进行展望和讨论,旨在为读者提供了一个全局性的视角来认知我国的出生缺陷遗传学研究发展之路。

An important part of China's “Healthy China 2030” planning is to lower the rate of birth defects. Because genetic factors contribute solely or collaboratively to about 80% of the occurrence of birth defects, genetic studies on birth defects can provide precise molecular targets for clinical screening, diagnosis and treatment. Genetic research on birth defects in China has developed by leaps and bounds since 1960s. At the same time, as related research achievements keep accumulating, translation of these scientific discoveries to clinical applications, with genetic counseling and testing as the core practices, has been developed and optimized. A close collaboration between genetic researches and clinical applications would provide reliable technical support for giving birth to more "healthy children" in China. This article firstly reviews China's history of genetic research on birth defects, then introduces current situation and hot topics of the research area at home and abroad and finally discusses about future trend and related clinical applications. In summary, an overall view is provided here for the readers to understand the development route of genetic research on birth defects in China.