Chinese Journal of Reproduction and Contraception 2025;45(8):763-768

doi:10.3760/cma.j.cn101441-20250411-00185

Expanded carrier screening in assisted reproduction: current clinical applications and emerging challenges

Lijing LIN 1 ; Chenming XU 1

Affiliations

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Keywords

Reproductive techniques, assisted; Expanded carrier screening; Next-generation sequencing; Carrier screening; Preimplantation genetic testing

Country

China

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.