染色体微阵列分析技术在产前诊断中的应用综述

摘要

Chromosomal microarray analysis (CMA) is an emerging chromosomal analysis technique that can clarify the source and nature of abnormal fragments of karyotype analysis, effectively diagnose chromosome microdeletions and microduplications that cannot be found in karyotype analysis, and significantly improve the diagnostic yield of fetal chromosomal abnormalities.CMA provides better resolution, higher automation, and faster turnaround time than karyotype analysis.At the same time, the detection of the variant of uncertain significance (VOUS) poses a challenge to the genetic counseling.This article reviews the application of CMA in prenatal diagnosis.%染色体微阵列分析 (chromosomal microarray analysis, CMA) 是一项新兴的染色体分析技术.它能够明确核型分析异常片段的来源与性质, 有效诊断核型分析无法辨识的染色体微缺失与微重复, 显著提高了胎儿染色体异常的检测成功率和诊断率.与染色体核型分析相比, CMA分辨率更好、自动化程度更高、检测周期更快.但同时, 临床意义不明确的拷贝数变异 (variant of uncertain significance, VOUS) 的检出给CMA的遗传咨询带来挑战.本文对CMA在产前诊断的应用进行综述.