ArticleScientific reports2025
Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.Scientific reports · 2026Article
- Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications.Stem cell research & therapy · 2026Article
- Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors.The Journal of molecular diagnostics : JMD · 2026Article
- Review
- Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation.Molecular cytogenetics · 2025Article
- Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping.Frontiers in genetics · 2025Article
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Authors and funding
11 authors.
Funding
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Abstract
Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein, 74 samples from 37 families were included, and their results of OGM were compared to conventional methods, namely karyotyping (KT) and chromosomal microarray analysis (CMA), which identified 27 variants across 16 positive families. Notably, OGM achieved a concordance rate of 94.7% and 100% with KT and CMA, respectively, presenting an overall concordance of 96.3%, as it missed detecting a centromeric translocation. Additionally, OGM detected two cryptic balanced translocations and a small deletion in three families that were missed by conventional methods, improving the diagnostic rate by 5.4%, along with assisting in the diagnoses of six families (16.2%) by identifying complex rearrangements and confirming cryptic translocations. The combination of KT with OGM yielded the highest diagnostic rate in all families. Overall, the findings of this study present the notable potential of OGM for its application, combined with KT per requirement, in clinical settings to improve the efficiency and accuracy of diagnoses and rapid screening of individuals seeking preconception genetic counseling.
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