[Diagnostic value of whole exome sequencing for fetuses undergone induced labor due to structural abnormalities].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-05-10 DOI:10.3760/cma.j.cn511374-20250122-00051

Yuanyuan Cao, Lin Wang, Rui Wang, Yuan Liu, Xin Li

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引用次数: 0

Abstract

Objective: To assess the diagnostic value of whole exome sequencing (WES) for fetuses undergone induced abortion due to structural abnormalities.

Methods: A retrospective analysis was carried out on 43 aborted fetuses with negative results for copy number variation (CNV) testing from January 2023 to June 2024 at Northwest Women's and Children's Hospital. Trio-WES was carried out on the tissues from the aborted fetuses. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 21-036).

Results: Among the 43 abortic fetuses, WES has detected pathogenic variants in 15 cases, with a total of 9 pathogenic variants, 5 suspected pathogenic variants, and 5 variants of uncertain significance. No definite pathogenic variants were detected in the remaining 28 cases.

Conclusion: For fetuses with structural abnormalities and negative results from CNV testing, WES can increase the diagnostic rate and facilitate etiological diagnosis and genetic counseling.

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【全外显子组测序对结构异常引产胎儿的诊断价值】。

目的：探讨全外显子组测序（WES）对结构异常引产胎儿的诊断价值。方法：回顾性分析西北妇幼医院2023年1月至2024年6月43例拷贝数变异（CNV）检测阴性的流产胎儿。对流产胎儿组织进行三联免疫组化（three - wes）。本研究已获得医院伦理委员会批准（伦理号21-036）。结果：43例流产胎儿中，WES检出致病变异15例，共9例致病变异，5例疑似致病变异，5例意义不确定变异。其余28例未检出明确的致病变异。结论：对于结构异常且CNV检测阴性的胎儿，WES可提高诊断率，便于病因诊断和遗传咨询。

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

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.