胎儿非整倍体产前诊断的研究进展  

Research progress on prenatal diagnosis of fetal aneuploidy

作　　者：计德永 王虎 贾文娟 方立异[2] 许克义[2] 

机构地区：[1]安徽省淮南市妇幼保健院产科,安徽淮南232001 [2]安徽理工大学医学院,安徽淮南232001

出　　处：《中国现代医生》2017年第35期161-164,共4页China Modern Doctor

基　　金：安徽省淮南市科技局重点项目(2014A)

摘　　要：产前诊断(prenatal diagnosis)是指在出生前对胚胎或胎儿的发育状态、是否患有疾病等方面进行检测诊断。通过遗传咨询,应用现代分子生物学技术,结合免疫遗传学、细胞遗传学、分子遗传学等学科,通过母体检查或对胚胎(胎儿)直接检测,了解胎儿在子宫内的生长发育状况,诊断胎儿是否有遗传缺陷及先天畸形。本文就各种产前诊断方法、最新技术、存在的不足与困难及发展前景综述如下。Prenatal diagnosis refers to the detection and diagnosis of embryonic or fetal developmental state, and whether the fetus is suffering from diseases before birth. Through genetic counseling, disciplines such as modern molecular biology techniques, integrated immune genetics, eytogeneties and molecular genetics are applied. Through maternal examination or direct detection of the embryo （fetus）, the growth and development status of the embryo in the uterus are understood, and whether the fetus has genetic defects and congenital malformations can be diagnosed. In this paper, a variety of prenatal diagnosis methods, the latest technology, existing shortcomings and difficulties, as well as development prospects are reviewed below.

关 键 词：产前诊断 胎儿细胞 荧光原位杂交技术 光谱核型分析 胎儿游离DNA 

分 类 号：R714.5[医药卫生—妇产科学]