Expanded carrier screening in assisted reproduction: current clinical applications and emerging challenges
10.3760/cma.j.cn101441-20250411-00185
- VernacularTitle:辅助生殖人群扩展性携带者筛查的临床应用及挑战
- Author:
Lijing LIN
1
;
Chenming XU
1
Author Information
1. 复旦大学附属妇产科医院遗传中心，上海 200001
- Publication Type:Journal Article
- Keywords:
Reproductive techniques, assisted;
Expanded carrier screening;
Next-generation sequencing;
Carrier screening;
Preimplantation genetic testing
- From:
Chinese Journal of Reproduction and Contraception
2025;45(8):763-768
- CountryChina
- Language:Chinese
-
Abstract:
Expanded 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.
