随着高通量测序技术的普及与成本的下降，扩展性常染色体隐性基因携带者筛查正从一项基于种族或家族史的定向检测，演变为面向广泛育龄人群的普适性预防医学工具。文章立足于产科临床实践，旨在深入探讨此项技术在当代围产医学中的核心价值。笔者认为，其意义远超越单纯的“检测”，而是从根本上重构了严重单基因遗传病的防御体系，实现了从被动诊断到主动预防、从孤立处理到系统管理的范式转变。文章将围绕其临床应用的三大核心价值、实施路径中的关键决策与挑战，分享个人见解与实践经验。

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.