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Hereditas(Beijing) >

2018 , Vol. 40 >Issue 10: 800 - 813

DOI: https://doi.org/10.16288/j.yczz.18-181

Reviews

Retrospect and prospect of the genetic research on birth defects
in China

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  • 1. Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030,China
    2. Institutes of Biomedical Sciences, Fudan University, Shanghai 200032,China
    3. Shanghai Center for Women and Children's Health, Shanghai 200062,China;

Received date: 2018-07-02

  Revised date: 2018-09-04

  Online published: 2018-09-11

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Abstract

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.

Key words： birth defects; pedigree study; genome sequencing; single-target genome; genetic counseling

Cite this article

Liya Sun, Qinghe Xing, Lin He . Retrospect and prospect of the genetic research on birth defects
in China[J]. Hereditas(Beijing), 2018 , 40(10) : 800 -813 . DOI: 10.16288/j.yczz.18-181

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