产前分子诊断研究进展  

Prenatal molecular diagnosis: an update

作　　者：郑昭璟 傅启华[1] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心检验科,200127

出　　处：《中华临床实验室管理电子杂志》2014年第3期9-12,共4页Chinese Journal of Clinical Laboratory Management(Electronic Edition）

基　　金：国家自然科学基金项目(81371893)

摘　　要：产前诊断是预防出生缺陷、提高人口质量的重要技术手段。产前分子诊断能有效提高产前诊断的准确率和特异性。荧光原位杂交技术、荧光定量PCR技术、多重连接依赖探针扩增技术等已广泛应用于产前分子诊断的临床实践工作中。近几年来,染色体芯片分析和下一代测序技术正快速进入产前分子诊断领域,并有望成为产前分子诊断中的一线诊断试验。将高通量基因组分析技术与传统分子诊断技术进行有机整合并应用于产前分子诊断,将积极推动产前诊断的快速发展。Prenatal diagnosis plays key roles in prevention of birth defects and enhancement of population quality. Prenatal molecular diagnosis can significantly improve the detection sensitivity and specificity of genetic and congenital abnormalities in fetus from all risk groups of pregnancy. Fluorescence in situ hybridization, quantitative fluorescent PCR, and multiple ligation-dependent probe amplification are routinely applied in prenatal molecular diagnosis. In recent years, chromosomal microarmy analysis and next generation sequencing are remodeling the landscape of prenatal diagnosis, and have the potential to be the first-tier prenatal testing in near future. Integrating high through-put genomic assays into prenatal molecular diagnosis will promote the healthy development of prenatal diagnosis.

关 键 词：产前诊断 分子诊断 游离胎儿DNA 

分 类 号：R714.5[医药卫生—妇产科学]