Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study
As far as we know, this is the largest retrospective study on OGM in prenatal diagnosis, and it includes a broad range of sample types. The results showed that OGM exhibits high concordance among the tested methods and increases the diagnostic rate. Thus, OGM has the potential to become a first-line technique for prenatal diagnosis in the future.
Authors
- Jiangshan Guo
- QingWei QI
- Na Hao (ORCID: https://orcid.org/0000-0002-7389-9825)
- Xiya Zhou
- Xueting Yang (ORCID: https://orcid.org/0000-0001-5360-413X)
- Kaili Yin
- Hanzhe Zhang
- Yaru Wang
- Mengmeng Li
- Cuixia Wang
- Wei Ming Li
- Yan Lü
- Jiazhen Chang
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Hospital of Hebei Province (CN)
- Maternal and Child Health Care Hospital of Bao'an (CN)
- Hebei Mental Health Center (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2026-01-20
- DOI
- https://doi.org/10.1186/s12967-025-06901-9
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 41.22
Funders
- Peking Union Medical College Hospital