染色体微阵列分析技术的适宜产前诊断应用策略

Clinical pathway selection based on chromosomal microarray analysis in prenatal diagnosis

染色体微阵列分析(chromosomal microarray analysis,CMA)是产前诊断领域的一项新兴技术,不仅可准确检测染色体数目及大片段结构是否异常,而且可以检测微缺失/微重复等微结构变异,具有分辨率高、检测周期短、结果客观等优势。但CMA对平衡易位、倒位及低水平嵌合等检出存在一定的局限性。现总结CMA的3种临床应用模式:一是针对胎儿出现某些特定结构异常的孕妇进行CMA;二是所有孕妇先选择无创性产前筛查方法锁定高危人群后行CMA;三是普查模式,即均直接选择CMA进行产前诊断。

Chromosomal microarray analysis(CMA)is an emerging approach in prenatal diagnosis.Apart from accurate identification of the number of chromosomes and major chromosomal aneuploidy,CMA can also be used to detect submicroscopic changes such as chromosomal microdeletions and microduplications with high-resolution,short turnaround time and objectivity.However,CMA is limited in detecting balanced translocation,inversion of chromosomes and low-level mosaicism.This review summarized three clinical situations where CMA is mainly applied:fetus with certain structural abnormalities in ultrasound scan,high-risk gravidas identified by non-invasive prenatal testing and general screening for all for prenatal diagnosis.