中国实用妇科与产科杂志2026，Vol.42Issue(2)：142-145,4.DOI:10.19538/j.fk2026020104
常染色体隐性基因携带者筛查的临床意义
Clinical significance of carrier screening for autosomal recessive genes
摘要
Abstract
With the increasing accessibility and decreasing cost of high-throughput sequencing,expanded carrier screening(ECS)for autosomal recessive genes is evolving from a targeted test based on ethnicity or family history into a universal preventive medicine tool for the general preconception and prenatal population.This article,grounded in obstetric clinical practice,aims to provide an in-depth exploration of the core value of this technology in contemporary perinatal medicine.The author believes that its significance extends far beyond mere"testing."It fundamentally reshapes the defense system against severe monogenic disorders,enabling a paradigm shift from passive diagnosis to active prevention,and from isolated case management to systematic healthcare intervention.This article will share personal insights and practical experience,focusing on three core values of its clinical application and the key decisions and challenges in its implementation pathway.关键词
携带者筛查/扩展性筛查/遗传咨询/出生缺陷一级预防/产前管理Key words
carrier screening/expanded carrier screening/genetic counseling/primary prevention of birth defects/prenatal management分类
医药卫生引用本文复制引用
李雪,刘彩霞..常染色体隐性基因携带者筛查的临床意义[J].中国实用妇科与产科杂志,2026,42(2):142-145,4.基金项目
国家重点研发计划(2023YFC2705903) National Key Research and Develop-ment Program(2023YFC2705903) （2023YFC2705903）
