Sun Li Ya, Xing Qing He, He Lin
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030,China.
Shanghai Center for Women and Children's Health, Shanghai 200062,China.
Yi Chuan. 2018 Oct 20;40(10):800-813. doi: 10.16288/j.yczz.18-181.
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.
中国“健康中国2030”规划的一个重要部分是降低出生缺陷率。由于遗传因素单独或共同导致约80%的出生缺陷发生，出生缺陷的遗传学研究可为临床筛查、诊断和治疗提供精确的分子靶点。自20世纪60年代以来，中国出生缺陷的遗传学研究取得了飞跃式发展。与此同时，随着相关研究成果不断积累，以遗传咨询和检测为核心实践的这些科学发现向临床应用的转化得到了发展和优化。遗传学研究与临床应用之间的紧密合作将为中国生育更多“健康宝宝”提供可靠的技术支持。本文首先回顾中国出生缺陷遗传学研究的历史，然后介绍国内外该研究领域的现状和热点话题，最后探讨未来趋势及相关临床应用。总之，本文为读者提供了一个全面的视角，以了解中国出生缺陷遗传学研究的发展路径。
