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用超声波软标记器对胎儿的染色体微阵列分析:对当前证据的元分析

Uisuk Kim¹, Young Mi Jung^1,2, Sohee Oh³

¹Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea.

Journal of Korean medical science

|March 5, 2024

概括

染色体微阵列分析 (CMA) 可以检测具有隔离的超声波软标记和正常型的胎儿的致病拷贝数变异 (CNV). 这种基因测试在识别软标记时,为怀孕咨询提供了宝贵的见解.

科学领域:

产前诊断在产前诊断
遗传学是一个遗传学.
胎儿医学胎儿医学

背景情况:

超声波软标记通常是正常的胎儿变体,而不是异常.
准则建议进行详细的胎儿解剖调查,以指导产前型决定.
染色体微阵列分析 (CMA) 对于具有正常焦质型的分离软标记物的实用性仍在争论中.

研究的目的:

系统地审查CMA在怀孕中具有隔离超声波软标记物和正常胎儿心型的临床意义.
为了评估CMA在这个特定的产科人群中的诊断产量.

主要方法:

在MEDLINE,Embase和Cochrane CENTRAL中进行了全面的电子文献搜索.
包括七个特定的超声波标记物:状囊囊,回声性肠道,回声性心内焦点,低可塑性鼻骨,短骨 (SF),单动脉和尿路扩张.
七篇符合条件的文章被综合用于最终的系统审查.

主要成果:

在2.0%的胎儿 (41/2,048) 中,发现了致病或可能致病的副本数变异 (CNV),这些胎儿具有孤立的软标记物和正常的型.
对CMA的诊断收益率最高的是孤立的短股骨 (SF),为3.9% (9/225).

结论:

CMA可以帮助评估与隔离的超声波软标记物和正常型的怀孕的风险.
这些发现支持使用CMA来增强对这些超声波发现面临的未来父母的遗传咨询.

关键词:

染色体微阵列分析副本编号变种副本编号变种胎儿染色体异常胎儿染色体异常胎儿超声波学胎儿超声波学怀孕怀孕怀孕怀孕超声波软标记器超声波软标记器

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