摘要
在出生缺陷中,单基因遗传病占有重要的比重,尤其是隐性遗传病。单基因病的携带者筛查是出生缺陷三级防控的重要组成部分。近年来,一种扩展性携带者筛查诞生并得到广泛推广。本文将就扩展性携带者筛查的发展现状及其面临的各方面挑战进行综述。
Monogenic disorders occupies an important share in birth defects, especially recessive hereditary diseases. Carriers screening of monogenic disorders is an important part of the 3 levels prevention and control of birth defects. In recent years, expanded carriers screening has been widely promoted. This article will review the development and challenges of expanded carrier screening.
作者
杨锴
刘晓婷
闫有圣
YANG Kai;LIU Xiaoting;YAN Yousheng(International Hospital of Peking University,Beijing,102206;PLA General Hospital;National Research Institute for Family Planning)
出处
《中国计划生育学杂志》
2018年第11期1131-1134,共4页
Chinese Journal of Family Planning
关键词
单基因病
扩展性携带者筛查
发展
挑战
Monogenic disorders
Expanded carrier screening
Development
Challenge
