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染色体微阵列分析和外基因组测序:在孕前诊断中对患有消化系统形的胎儿的实施

You Wang^1,2, Liyuan Liu^1,2, Fang Fu²

¹The First School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China.

|October 28, 2023

概括

染色体微阵列分析 (CMA) 和外基因组测序 (ES) 可以检测有消化系统形 (DSM) 的胎儿的染色体异常. 综合测试增加了检测率,突出了受影响婴儿神经发育障碍的风险.

科学领域:

产前诊断在产前诊断
医学遗传学医学遗传学
胎儿医学胎儿医学

背景情况:

胎儿的消化系统形 (DSM) 与染色体异常有关.
了解DSM的遗传基础对于准确的诊断和预后至关重要.

研究的目的:

为了比较染色体微阵列分析 (CMA) 和外基因组测序 (ES) 对胎儿DSMs的诊断准确度和产量.
评估CMA和ES结合的增量诊断产量.
评估胎儿DSM,染色体异常和神经发育结果之间的相关性.

主要方法:

追溯分析595名患有胎儿DSM的妇女进行产前诊断.
评估CMA和ES的诊断产量.
使用美国医学遗传学与基因组学学院指南对副本数变异 (CNV) 的分类.

主要成果:

在2.12%的胎儿中,CMA检测到致病性CNV,在13.35%的胎儿中检测到未知意义的变异 (VUS).
在16.08%的胎儿中,ES检测到致病性/可能致病性变异,在18.2%的胎儿中检测到VUS.
结合CMA和ES显示出增加DSM胎儿遗传异常检测的潜力,特别是当其他异常存在时.

结论:

胎儿DSM和染色体异常之间存在显著的相关性.
存在额外的系统性异常会增加染色体异常的发生率.
先天性DSM与神经发育障碍的风险增加有关,支持CMA和ES联合的临床实用性.

关键词:

染色体微阵列分析分析消化系统形消化系统形外基因组测序是指外基因组的测序.遗传变异是一种遗传变异.在产前诊断产前诊断

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