染色体微阵列分析技术在产前诊断中的应用  

Application of chromosomal microarray analysis in prenatal diagnosis

作　　者：江竞 孟茜 JIANG Jing;MENG Qian(Yangzhou University Medical College,Yangzhou 225009;Lianyungang Maternal and Child Health Hospital,Lianyungang 222000,China)

机构地区：[1]扬州大学医学院,江苏扬州225009 [2]连云港市妇幼保健院,江苏连云港222000

出　　处：《临床医学研究与实践》2022年第13期181-184,189,共5页Clinical Research and Practice

摘　　要：相较于传统核型分析,染色体微阵列分析(CMA)作为新的遗传学分析技术,其优势在于高通量、高分辨率及可自动化检测,且不需要组织培养,检测周期更短。同时,CMA能够检测出染色体微缺失/微重复,其结果客观精准,使染色体变异的检出率和诊断率获得明显提高,因此已逐步被广泛应用于胎儿染色体疾病的检测中。然而,通过CMA检出的大多数拷贝数变异(CNV)并不具有明确的临床意义,这为CMA的遗传咨询带来了问题和挑战。本文将对CMA的检测原理及其临床应用、进展等进行综述。Compared with traditional karyotype analysis,chromosomal microarray analysis(CMA) as a new genetic analysis technology,has the advantages of high throughput,high resolution and automatic detection.It does not need tissue culture,and the detection cycle is shorter.At the same time,CMA can detect chromosome microdeletion/microduplication,the results are objective and accurate,which significantly improves the detection rate and diagnosis rate of chromosome variation,Therefore,it has been widely used in the detection of fetal chromosome diseases.However,most copy number variants(CNV) detected by CMA do not have clear clinical significance,which poses problems and challenges for genetic counseling in CMA.This article reviews the detection principle,clinical application and progress of CMA.

关 键 词：染色体微阵列分析 产前诊断 遗传咨询 

分 类 号：R73[医药卫生—肿瘤]