Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.

IF 3.9 2区综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES

Scientific Reports Pub Date : 2025-01-21 DOI:10.1038/s41598-025-86828-9

Kaili Yin, Mengmeng Li, Hanzhe Zhang, Jiazhen Chang, Qingwei Qi, Xiya Zhou, Jiangshan Guo, Yaru Wang, Xuequn Mao, Na Hao, Yulin Jiang

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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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光学基因组图谱破译寻求孕前遗传咨询的家庭中的染色体畸变。

光学基因组图谱（OGM）在同时检测结构和拷贝数变异方面具有很高的一致性。本研究旨在回顾性评价OGM在孕前遗传咨询中的疗效和潜在应用。本研究纳入了来自37个家族的74份样本，并将其OGM结果与常规方法（即核型分析（KT）和染色体微阵列分析（CMA））进行了比较，结果发现16个阳性家族中有27个变异。值得注意的是，OGM与KT和CMA的一致性率分别为94.7%和100%，总体一致性为96.3%，因为它没有检测到着丝粒易位。此外，OGM检测到常规方法未检测到的3个家族的2个隐性平衡易位和1个小缺失，将诊断率提高了5.4%，同时通过识别复杂重排和确认隐性易位，帮助6个家族（16.2%）诊断。在所有家庭中，KT合并OGM的诊断率最高。总的来说，本研究的结果显示了OGM在临床应用中的显著潜力，结合KT / per要求，可以提高诊断的效率和准确性，并对寻求孕前遗传咨询的个体进行快速筛查。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Scientific Reports Natural Science Disciplines-

CiteScore

7.50

自引率

4.30%

发文量

19567

审稿时长

3.9 months

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