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使用全面的基因组拷贝数分析进行植入前遗传测试对平衡转移载体有好处

Aya Yamazaki^1,2, Tomoko Kuroda³, Nami Kawasaki³

¹Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.

Journal of human genetics

|October 23, 2023

概括

在平衡染色体转位 (PGT-SR) 的植入前遗传测试 (PGT) 发现了更多的异常胚胎,而不是标准的PGT用于形状 (PGT-A). 对于携带者来说,PGT-SR更有利,尽管可转移芽细胞的发病率较低.

科学领域:

生殖医学生殖医学
遗传学遗传学是一个
胚胎学胚胎学

背景情况:

均衡的染色体转位增加了流产的风险.
植入前遗传检测 (PGT) 通过全面的基因组复制号分析有助于携带者.
PGT可以识别胚胎中的染色体异常.

研究的目的:

为了比较来自平衡转位载体与不育患者的胚胎中的染色体异常比率.
评估PGT对平衡转移运营商的好处.

主要方法:

我们比较了PGT-SR对的894个皮肤样本和PGT-A对的3269个样本.
分析了可转移的胚胎细胞比率和 de novo 体积的频率.
亚组分析包括罗伯茨的,互惠的和染色体内反转.

主要成果:

在PGT-SR组中,可转移性母细胞囊细胞比率明显较低.
罗伯茨的转移子组显示了更高的可转移胚胎细胞比率.
PGT-SR发现不可转移胚胎的比例高于PGT-A.
在PGT-SR组中,de novo动脉的发生频率较低.

结论:

使用综合基因组拷贝数分析的PGT对平衡转移载体更有利.
该研究没有证实染色体间影响.
PGT-SR有效地识别了转位载体中染色体异常的胚胎.

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