摘要
随着高通量测序技术的发展,获取孕妇外周血胎儿游离DNA进行胎儿染色体非整倍体评估的无创产前筛查(NIPT)技术已在国内外广泛应用。21、18、13-三体综合征是目前NIPT的主要检测目标,但已有许多学者提出了将NIPT技术用于性染色体、双胎妊娠,以及对染色体微缺失、微复制,单基因遗传病等其他范围扩展检测的可能性。
With the development of high-throughput sequencing technology, noninvasive prenatal testing(NIPT) technology for fetal chromosome aneuploidy evaluation by extracting fetal free DNA from maternal peripheral blood has been widely used in clinical practice at home and abroad.At present, the main detection targets of NIPT are 21,18 and 13-trisomy syndrome.However, many scholars have proposed the possibility of applying NIPT technology in sex chromosomes, twin pregnancy, chromosomal microdeletion, microduplications, monogenic disease and other range extended testing.
作者
徐玉婵(综述)
严提珍(审校)
XU Yuchan;YAN Tizhen(Department of Medical Genetics,Liuzhou Maternity and Child Healthcare Hospital/Liuzhou Key Laboratory of Birth Defects Prevention and Control/Liuzhou Institute of Reproduction and Genetics,Liuzhou,Guangxi 545001,China)
出处
《现代医药卫生》
2023年第2期295-299,共5页
Journal of Modern Medicine & Health
基金
柳州市科学研究与技术开发计划项目(2014G02044、2018AF10501)
广西壮族自治区卫生健康委员会自筹经费科研课题(Z20180044、Z20210767、Z-B20221587)。
关键词
无创产前筛查
扩展性检测
双胎妊娠
微缺失微重复
单基因遗传病
综述
Noninvasive prenatal testing
Extended testing
Twin pregnancy
Microdeletion and microduplication
Monogenic disease
Review
