摘要
中国是出生缺陷的高发国,出生缺陷总发生率约为5.6%,出生缺陷在全国婴儿死因中的构成比顺位由2000年的第4位上升至2011年的第2位,达到19.1%。遗传因素是出生缺陷发生的一个重要原因,随着基因组学的研究进展以及基因检测平台的高速发展,使得基因检测在常见的染色体异常、新生儿代谢性疾病及单基因病等出生缺陷预防中的应用越来越广泛。以出生缺陷的三级预防体系为基础,探讨基因组学在其体系中的应用对完善中国出生缺陷的预防工作是非常重要的。
China is a country suffering from high rate, 5.6%, of birth defects. Birth defects as one of the most commom causes of infant death, has risen to the second cause of infant death in 2011 from the fourth in 2000. In 2011, 19.1%infant deaths were from birth defects. Genetic factor is one of the most important factors of birth defects. With the rapid development of genomics research and genetic testing platform, the genetic testing has been more widely used in the prevention of birth defects. In this paper, we discuss the application of genomic technologies, as well as its importance, in the prevention of birth defects as for the three levels′ system of birth defects prevention.
出处
《国际生殖健康／计划生育杂志》
CAS
2013年第6期415-418,共4页
Journal of International Reproductive Health/Family Planning
关键词
出生缺陷
先天畸形
基因组学
序列分析
综合预防
新一代测序技术
Birth defects
Congenital abnormalities
Genomics
Sequence analysis
Universal precautions
NGS （Next-generation sequencing）
