Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families
PGT based on low-coverage next-generation sequencing with linkage analyses can block the transmission of deafness-related mutations to offspring. 2-3 × depth of embryo sequencing data enabled a credible testing of 205 deafness-related mutations loci. Couple age and number of retrieved oocytes are related to pregnancy outcome and can be considered prognostic indicators of PGT of HHL.
Authors
- Rui Zhou (ORCID: https://orcid.org/0000-0002-7903-9965)
- Yuan Gao (ORCID: https://orcid.org/0000-0002-7644-2994)
- Wenkai Ji
- Minyue Ma (ORCID: https://orcid.org/0000-0002-5184-7741)
- Jianping Sun (ORCID: https://orcid.org/0000-0002-3460-0317)
- Xiaonan Wu (ORCID: https://orcid.org/0000-0002-4845-2140)
- Xiaohui Zhao (ORCID: https://orcid.org/0000-0001-6465-3498)
- Hongmei Peng (ORCID: https://orcid.org/0000-0001-7214-5995)
- Meng Dou (ORCID: https://orcid.org/0000-0002-5546-043X)
- Wenjing Wang (ORCID: https://orcid.org/0000-0002-2971-4213)
- Qiuju Wang (ORCID: https://orcid.org/0000-0002-3747-0327)
- Lan Lan
- Jing Guan (ORCID: https://orcid.org/0000-0002-1134-1172)
- Guohui Chen (ORCID: https://orcid.org/0000-0003-0930-680X)
Institutions
- Shandong University (CN)
- Nankai University (CN)
- Chinese PLA General Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
Publication Details
- Journal
- Journal of Assisted Reproduction and Genetics
- Published
- 2025-05-19
- DOI
- https://doi.org/10.1007/s10815-025-03504-7
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Shandong University
- National Natural Science Foundation of China
- General Hospital of People’s Liberation Army