Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology
The findings elucidate the carrier rate of pathogenic genes among 155 severe monogenic recessive genetic diseases and underscore the significance of ECS as a preventive measure against congenital anomalies. When both partners carry the same genetic mutation for a monogenic disease, preventive strategies can be taken in offspring through preimplantation genetic testing (PGT), prenatal genetic testing, or the utilization of donor gametes. ECS is instrumental in assessing reproductive risk, guiding fertility-related decisions, and reducing the prevalence of monogenic recessive genetic disorders in subsequent generations.
Authors
- Sijie He (ORCID: https://orcid.org/0000-0002-4418-1785)
- Gang Li (ORCID: https://orcid.org/0000-0002-8573-1608)
- Xiu‐Hua Xu (ORCID: https://orcid.org/0000-0002-0759-2286)
- Guimin Hao (ORCID: https://orcid.org/0000-0002-0185-8442)
- Zhiming Zhao
- Baojun Shi
- Qian Li (ORCID: https://orcid.org/0009-0005-2437-6779)
- Ziwei Wang (ORCID: https://orcid.org/0009-0003-8050-9121)
- Luyi Lv
Institutions
- Hebei Medical University (CN)
- Second Hospital of Hebei Medical University (CN)
- Bethune International Peace Hospital (CN)
- BGI Genomics
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-08-19
- DOI
- https://doi.org/10.1186/s12920-024-01989-2
- Citations
- 2
- Primary Topic
- Animal Genetics and Reproduction
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Natural Science Foundation of Hebei Province
- Hebei Medical University
- China Health Promotion Foundation
- National Key Research and Development Program of China