Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling
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 inc...
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Nature Portfolio
2025-01-01
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| Online Access: | https://doi.org/10.1038/s41598-025-86828-9 |
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| author | Kaili Yin Mengmeng Li Hanzhe Zhang Jiazhen Chang Qingwei Qi Xiya Zhou Jiangshan Guo Yaru Wang Xuequn Mao Na Hao Yulin Jiang |
| author_facet | Kaili Yin Mengmeng Li Hanzhe Zhang Jiazhen Chang Qingwei Qi Xiya Zhou Jiangshan Guo Yaru Wang Xuequn Mao Na Hao Yulin Jiang |
| author_sort | Kaili Yin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-aaf4943ef97a49db99c32d7197c197c5 |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nature Portfolio |
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| series | Scientific Reports |
| spelling | doaj-art-aaf4943ef97a49db99c32d7197c197c52025-01-26T12:24:58ZengNature PortfolioScientific Reports2045-23222025-01-011511710.1038/s41598-025-86828-9Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counselingKaili Yin0Mengmeng Li1Hanzhe Zhang2Jiazhen Chang3Qingwei Qi4Xiya Zhou5Jiangshan Guo6Yaru Wang7Xuequn Mao8Na Hao9Yulin Jiang10National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeBecreative Lab Co., LtdEcobono (Beijing) Biotech Co., LtdHaidian District Maternal and Child Health Care HospitalNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeNational Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeAbstract 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.https://doi.org/10.1038/s41598-025-86828-9Optical genome mappingChromosomal aberrationsConventional methodsGenetic counseling |
| spellingShingle | Kaili Yin Mengmeng Li Hanzhe Zhang Jiazhen Chang Qingwei Qi Xiya Zhou Jiangshan Guo Yaru Wang Xuequn Mao Na Hao Yulin Jiang Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling Scientific Reports Optical genome mapping Chromosomal aberrations Conventional methods Genetic counseling |
| title | Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| title_full | Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| title_fullStr | Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| title_full_unstemmed | Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| title_short | Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| title_sort | optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling |
| topic | Optical genome mapping Chromosomal aberrations Conventional methods Genetic counseling |
| url | https://doi.org/10.1038/s41598-025-86828-9 |
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