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基于有效和方便的测序平台的病原性微删除和微复制的植入前遗传测试的临床应用

Yiqi Yin^1,2,3, Qing Zhang^1,2,3, Caiyun Wu^1,2,3

¹Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Anhui, 230022, China.

Journal of assisted reproduction and genetics

|December 13, 2025

概括

基诺实验室的M DX测序器为微删除/重复的植入前遗传测试 (PGT) 提供了一个经济有效和快速的解决方案. 这一下一代测序平台实现了高诊断准确性,提高了预防遗传疾病的可访问性.

科学领域:

生殖医学生殖医学
遗传学遗传学是一种遗传学.
分子生物学分子生物学

背景情况:

微删除/重复的植入前遗传测试 (PGT) 传统上依赖于基于SNP的链接分析,这是昂贵和耗时的.
这限制了寻求防止遗传遗传性疾病的夫妇的可访问性.

研究的目的:

引入和评估GenoLab M DX基因测序器,这是一个使用下一代测序 (NGS) 技术的新平台.
目标是降低成本并提高微删除/重复的PGT的测序效率.

主要方法:

基诺实验室的M DX平台被用来检测4 Mb以下的胚胎囊,被阻止的胚胎和患有微删除/重复综合征的夫妇的外周血液中的副本数变异 (CNV).
通过将GenoLab的结果与先前的发现进行比较来评估诊断有效性.

主要成果:

对69个受影响的母细胞囊样本的测序显示了71.0%的亚微观异常,与之前的活检结果一致94%.
对15个被捕胚胎的分析显示,40%的胚胎有异常,20%的胚胎有马赛克. 在各种样本类型中,整体诊断准确度超过了90%.
成功的胚胎移植使得微切除/重复的夫妇分别生了两个健康的孩子.

结论:

基诺实验室M DX测序器是一种可靠,快速 (不到2周) 和具有成本效益的工具,用于对单一性疾病的副本数变异分析.
它为PGT提供了一个创新的解决方案,特别是在新变种或当家族DNA无法使用时.
这个平台代表了辅助生殖技术的重大进步.

关键词:

逮捕逮捕逮捕逮捕胚胎胚胎是一个胚胎.微切除是一种微切除.微复制是微复制的方法.在植入前进行遗传检测.

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