Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series
This study shows that OGM is a valuable adjunctive diagnostic method for detecting cryptic translocations. By providing a molecular diagnosis, it enables definitive reproductive risk assessment and personalized genetic counseling for carrier couples.
Authors
- Li Cao
- Xiaohuan Zhang
- Yingnan Liao (ORCID: https://orcid.org/0000-0001-5351-4783)
- He Lin
- Chang Tan
- Ling Liao (ORCID: https://orcid.org/0000-0002-2860-8654)
- Shi Ma
- Xuemei Wu
- Guo Huang
Institutions
- Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (CN)
Publication Details
- Journal
- European journal of medical research
- Published
- 2026-01-08
- DOI
- https://doi.org/10.1186/s40001-025-03814-7
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00