微阵列比较基因组杂交应用于产前诊断中的研究进展

染色体异常是导致胎儿发育迟缓、畸形、死胎和其他遗传性综合征的根本原因.产前诊断致力于早期发现和预防上述遗传病,以提高人口素质.20世纪70年代以来,染色体G显带核型分析技术是染色体病诊断和产前诊断的“金标准”,但其耗时长、分辨率低.为克服上述缺点,微阵列比较基因组杂交（ACGH）技术应运而生,该方法无论从检测速度、自动化程度、覆盖面和分辨率方面均较传统细胞遗传学方法有极大程度的提高.笔者拟就ACGH在产前诊断中的应用及其发展前景,综述如下.

Research Progress of Array Comparative Genomic Hybridization on Prenatal Diagnosis

Chromosome abnormality is the fundamental reason of fetal growth retardation,malformation,stillbirth and other genetic syndromes.Prenatal diagnosis is committed to find and prevent these genetic diseases as early as possible and to improve the quality of the population.Chromosome G-banding karyotype analysis technology is the gold standard for chromosome disease diagnosis and prenatal diagnosis.But in order to overcome it＇s disadvantages such as time-consuming and low resolution,array comparative genomic hybridization （ACGH） technology emerge as the times require.In terms of speed,the degree of automation,coverage and resolution,ACGH is improved to a great extent compared to the conventional cytogenetic analysis.In this article,we are going to discuss the advantages,disadvantages and prospects of ACGH in prenatal diagnosis.