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使用基于单核酸多态的染色体微阵列分析在诊断胎儿生长限制的遗传病因学的产量

P T Nguyen¹, T N L Hoang¹, D C Tran¹

¹Department of Obstetrics and Gynecology, Hanoi Medical University, Ha Noi, Vietnam.

La Clinica terapeutica

|February 17, 2025

概括

诊断胎儿的遗传异常与子宫内生长限制 (IUGR) 和形是至关重要的. SNP Array测试是有效的,检测病例的数量是单独 kariyotyping 的两倍.

科学领域:

产科和妇科产科和妇科
医学遗传学医学遗传学
产前诊断在产前诊断

背景情况:

宫内生长限制 (IUGR) 是一个常见的产科并发症.
IUGR通常与先天性异常同时发生,使诊断和管理复杂化.
鉴定遗传原因对于受影响的胎儿至关重要.

研究的目的:

通过超声波诊断被诊断为IUGR和形的胎儿的遗传异常.
为了评估SNP Array测试在检测这些异常时的有效性,与类型测试相比.

主要方法:

从2021年到2023年进行了一项横截面描述性研究.
分析了129例具有形的IUGR病例.
遗传分析包括对羊水样本进行型和SNP Array测试.

主要成果:

在75例分析病例中,有26例 (34.7%) 呈现遗传异常.
SNP Array检测到16种致病拷贝数变异 (CNV),包括增益和删除.
SNP Array发现的异常数量是空心类型单独发现的异常数量的两倍,其中16个病例通过Array呈阳性,但通过空心类型呈阴性.

结论:

染色体微阵列 (CMA) 技术,特别是SNP阵列,对于诊断异常IUGR的遗传原因非常有效.
在IUGR病例的产前诊断中,应推SNP Array测试作为常规使用.
这种方法提高了遗传疾病的检测率,有助于临床管理和遗传咨询.

关键词:

宫内生长限制宫内生长限制单核酸多态基染色体微数组副本数量的变化副本数量的变化

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