Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population
Our study demonstrated that the ECS for reproductive-age individuals can identify couples and individuals at risk of conceiving a child with a recessive genetic disorder and support reproductive choices through the provision of genetic counseling to reduce the likelihood of offspring with congenital anomalies.
Authors
- Christopher Ma (ORCID: https://orcid.org/0000-0002-4698-9948)
- Jiangrong Chen
- Jiali Lu (ORCID: https://orcid.org/0000-0003-3493-7857)
- Changhong Wang
- Jingyu Zhao (ORCID: https://orcid.org/0000-0002-0386-2736)
- Mei Li (ORCID: https://orcid.org/0000-0003-2034-0267)
- Yang Wan (ORCID: https://orcid.org/0000-0003-2595-185X)
- Shanshan Luan
Institutions
- BGI Group (China) (CN)
Publication Details
- Journal
- Archives of Gynecology and Obstetrics
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1007/s00404-025-08100-9
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00