染色体微阵列分析技术在胎儿颈项透明层增厚中的应用

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摘要染色体微阵列分析（CMA）是新近发展的产前诊断技术，凭着巨大的优势得到了广泛的应用。其优点为分辨率达到Kb级别、灵敏度和特异性高、较高程度的自动化操作以及高效率等，不仅能检测染色体数目异常及非平衡性结构异常，还能检测染色体组亚显微结构水平上不平衡重排引起的拷贝数变异（CNV）。因此，在临床检测中取得青睐，成为现在临床遗传学常规诊断的工具，并被引入到产前胎儿遗传疾病检测中。颈项透明层（NT）测量作为常规的早孕期筛查项目之一已被人们广泛采用，大量研究发现NT增厚是胎儿染色体异常的一项敏感性指标。CMA已作为产前诊断遗传筛查的一线诊断技术，在超声检测出NT异常时，染色体异常的被检出率，CMA较常规核型分析明显增高，但CMA技术可否作为产前诊断的一线检测方法目前尚不明确，在应用中特别要重视对临床意义不明的基因CNV的解释和遗传咨询。本文将对CMA技术在胎儿NT增厚中的应用、优势和面临的挑战等作一个详细的综述。

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	丁小瑞1 刘爱菊2▲ 杨晓彦2 张俊绘2

关键词 ：颈项透明层增厚, 染色体微阵列分析技术, 产前诊断

Abstract：Chromosomal microarray analysis (CMA) is a newly developed prenatal diagnosis technology, which has been widely used due to its huge advantages. Its advantages are Kb level resolution, high sensitivity and specificity, high degree of automation and high efficiency etc., it can not only detect chromosome number and unbalanced structural abnormalities, but also detect copy number variation (CNV) caused by unbalanced rearrangement at the level of chromosomal sub microstructure. Therefore, it has gained favor in clinical detection, become the tool of clinical genetic routine diagnosis, and has been introduced into prenatal fetal genetic disease detection. The measurement of nuchal translucency (NT) has been widely used as one of the routine screening items in early pregnancy. Many studies have found that NT thickening is a sensitive index of fetal chromosomal abnormalities. CMA has been used as a first-line diagnostic technique for prenatal genetic screening. In the detection rate of chromosomal abnormalities when NT abnormality is detected by ultrasound, CMA is significantly higher than that of conventional karyotype analysis. However, it is not clear whether CMA can be used as a first-line detection method for prenatal diagnosis. In application, it is necessary to pay special attention to the explanation and inheritance of gene CNV of clinical significance consultation. In this paper, we will review the application, advantages and challenges of microarray analysis in the thickening of NT.

Key words： Thickening of nuchal transparent Chromosome microarray analysis technique Prenatal diagnosis

基金资助:内蒙古自治区自然科学基金项目（2018LH08019）。

通讯作者: ▲通讯作者

引用本文:

丁小瑞1 刘爱菊2▲ 杨晓彦2 张俊绘2. 染色体微阵列分析技术在胎儿颈项透明层增厚中的应用[J]. 中国医药导报, 2020, 17(17): 45-48,56.
DING Xiaorui1 LIU Aiju2▲ YANG Xiaoyan2 ZHANG Junhui2. Application of chromosome microarray analysis in thickening of transparent layer of fetal neck. 中国医药导报, 2020, 17(17): 45-48,56.

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http://www.yiyaodaobao.com.cn/CN/ 或 http://www.yiyaodaobao.com.cn/CN/Y2020/V17/I17/45

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