摘要
最初的产前诊断主要针对染色体非整倍体,随着遗传学检测技术的进展,越来越多的遗传性疾病可以在产前得到诊断,包括致病性拷贝数变异、单基因病、单亲二体等,产前遗传学检测从细胞遗传学时代进入到分子时代.随着cfDNA(cell-free DNA)检测迅速整合进入产前筛查领域,产前筛查也从基于生化指标的母血清学筛查时代进入到分子时代,很多单基因遗传病也可以通过扩展型携带者筛查被检出.技术的进步极大地促进了学科的发展,同时也极大地改变了人们的理念以及对产前筛查和产前诊断的认知.
Original prenatal diagnostic testing focused primarily on chromosomal aneuploidies.Advances in genetics and genomic medicine have led to a dramatic increase in the availability of genetic testing,including in the prenatal period.Prenatal diagnosis is available for an ever-increasing number of disorders,including copy number variants,single gene disorders,and uniparental disomy.Prenatal genetic testing has stepped from the cytogenetic era into the molecular era.At the same time,prenatal screening has improved with development of cell-free DNA(cfDNA)screening,as well as expanded carrier screening for a broad array of inherited conditions.The advances in the technologies promote scientific research in this area and have altered people’s cognition of prenatal screening and prenatal diagnosis.
作者
戚庆炜
周希亚
蒋宇林
吕嬿
刘俊涛
QI QingWei;ZHOU XiYa;JIANG YuLin;LV Yan;LIU JunTao(Department of Obstetrics and Gynecology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《中国科学：生命科学》
CSCD
北大核心
2021年第8期997-1006,共10页
Scientia Sinica(Vitae)
关键词
产前筛查
产前诊断
染色体非整倍体
cfDNA检测
染色体微阵列分析
外显子测序
孕妇高龄
prenatal screening
prenatal diagnosis
chromosomal aneuploidy
cfDNA testing
chromosomal microarray analysis
exome sequencing
advanced maternal age
