利用母血中胎儿细胞进行无创产前诊断的研究进展  

Process in non-invasive prenatal diagnosis using fetal cells in maternal blood

作　　者：隋玉杰[1] 杨麒巍 吴飞[2] 张桂珍[1,3] 宋旸[3] SUI Yujie;YANG Qiwei;WU Fei;ZHANG Guizhen;SONG Yang(Key Laboratory for Molecular and Chemical Genetics of Critical Human Diseases of Jilin Province,Jilin University Second Hospital,Changchun 130041,China;Department of Gynecology and Obstetrics,Jilin University Second Hospital,Changchun 130041,Ch;Department of Orthopedics,Jilin University Second Hospital,Changchun 130041,China)

机构地区：[1]吉林大学第二医院研究中心,长春130041 [2]吉林大学第二医院妇产科,长春130041 [3]吉林大学第二医院骨科,长春130041

出　　处：《中国体视学与图像分析》2018年第3期297-302,共6页Chinese Journal of Stereology and Image Analysis

基　　金：国家自然科学基金青年科学基金项目(81702195);国家发改委建设资金项目(吉大二院精准医学分子诊断应用示范中心建设);吉林省科技厅优秀青年人才基金项目(20180520125JH);吉林省教育厅"十三五"科学技术研究项目(JJKH20180103KJ)

摘　　要：无创性产前诊断方法是近年来围产医学领域研究的热点。母血中的胎儿细胞具有包含完整的胎儿基因组、不受母血DNA污染的优点。然而,胎儿细胞的数量稀少,很难应用于临床。近年来,测序和微序列分析等分子细胞遗传学技术的发展,为利用少数几个胎儿细胞诊断遗传病提供了可能。本文就胎儿细胞的发现、富集、鉴定、分析以及在无创性产前诊断的应用现状进行综述。Noninvasive prenatal diagnosis is a hot topic in the field of perinatology in recent years. Fetal ceils in maternal blood have the advantage of containing complete fetal genome that is not contaminated by maternal DNA. However, rarity of fetal ceils made it difficult to apply to the clinic. Recently developed molecular diagnose g tification, cytogenetic techniques, such as sequencing and microarray analysis, have made it possible to enetic diseases with a few fetal cells. In this paper, we review the discovery, enrichment, iden- analysis of fetal cells, and their application in noninvasive prenatal diagnosis.

关 键 词：孕妇外周血 胎儿细胞 无创性产前诊断 分子细胞遗传学技术 综述 

分 类 号：R714.5[医药卫生—妇产科学]