摘要扩展性携带者筛查是一种新型遗传风险评估工具，通过高通量测序技术可一次性检测数百种常染色体隐性或X连锁隐性单基因遗传病的携带风险，为辅助生殖人群提供生育的遗传风险分层和决策支持。然而，扩展性携带者筛查仍面临疾病纳入标准不统一、变异解读复杂等挑战。未来需基于中国人群遗传数据开发适合中国人群的携带者筛查产品，完善数据安全和隐私保护政策，建立培训体系提升生殖遗传咨询能力，以推动辅助生殖领域扩展性携带者筛查的精准应用。

abstractsExpanded carrier screening (ECS) is a novel genetic risk assessment approach that leverages next-generation sequencing technologies to simultaneously identify carrier status for hundreds of autosomal recessive or X-linked recessive monogenic disorders in a single assay. This strategy enables stratified risk evaluation and supports informed reproductive decision-making, particularly among individuals undergoing assisted reproductive technologies (ARTs). Despite its increasing utility, the clinical implementation of ECS remains constrained by several challenges, including inconsistencies in screening panel inclusion criteria and the complexity of genetic variant interpretation. To promote the precision application of ECS in ARTs populations, future efforts should prioritize the development of population-specific panels informed by comprehensive genetic data from Chinese cohorts. In addition, strengthening data security and privacy protection policies, along with establishing specialized training programs in reproductive genetic counseling, will be essential for ensuring the responsible and effective integration of ECS into clinical practice.