染色体微阵列分析技术在产前遗传性疾病诊断中的应用进展

发布时间：2018-04-14 01:12

本文选题：染色体微阵列分析 + 产前诊断　；参考：《现代妇产科进展》2015年05期

【摘要】：染色体微阵列分析(CMA)技术能提供全染色体高分辨率检查,不需细胞培养,自动化程度高,因此在产前遗传性疾病的诊断中应用越来越广泛。产前发现胎儿超声结构异常时,CMA的染色体异常检出率较常规核型分析明显增高,CMA已作为智力低下的一线诊断技术,对于分析流产或死胎组织细胞的染色体异常十分有用,是鉴别疑难标记染色体的有利手段,CMA技术也稳步应用在胚胎种植前的遗传学诊断中。但CMA技术可否作为产前遗传性疾病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拷贝数变异的解释和遗传咨询。
[Abstract]:Chromosome microarray analysis (CMA) technique can provide high resolution detection of whole chromosomes without the need of cell culture and has a high degree of automation. Therefore, it is more and more widely used in the diagnosis of prenatal genetic diseases.The detection rate of chromosomal abnormality of CMA is significantly higher than that of conventional karyotype analysis. CMA has been used as a first-line diagnostic technique for mental retardation, which is very useful for the analysis of chromosomal abnormalities in abortive or stillborn tissue cells.CMA technique is also used steadily in the genetic diagnosis of embryo implantation.However, it is not clear whether CMA can be used as a first-line detection method for prenatal genetic diseases. In the application, special attention should be paid to the interpretation and genetic consultation of gene copy number variation of unknown clinical significance.
【作者单位】：山东大学附属省立医院妇产科;
【基金】：山东省人口和计划生育委员会科学技术研究项目(No:2012-10)
【分类号】：R714.55

【共引文献】