血浆游离胎儿DNA片段组学的进展与展望  

Advances and prospects of cell-free fetal DNA fragmentomics in plasma

作　　者：潘昊天 赵云[2] 赵凯 PAN Haotian;ZHAO Yun;ZHAO Kai(Department of Maternal and Child Health Hospital of Hubei Province,Hubei University of Medicine,Wuhan,Hubei 430070,China;Maternal and Child Health Hospital of Hubei Province,Wuhan,Hubei 430070,China;Institute of Reproductive Health,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China)

机构地区：[1]湖北医药学院湖北省妇幼保健院研究生培养基地,湖北武汉430070 [2]湖北省妇幼保健院,湖北武汉430070 [3]华中科技大学同济医学院生殖健康研究所,湖北武汉430030

出　　处：《中国优生与遗传杂志》2023年第9期1947-1951,共5页Chinese Journal of Birth Health & Heredity

基　　金：湖北省卫生健康委员会基金(WJ2023M109)。

摘　　要：随着孕妇人数及高龄产妇数量的增加,各种围生期相关疾病的发病率也随之增加。近期外周血液游离DNA分子的片段化研究引起了很多研究学者的兴趣,在肿瘤、免疫疾病等领域展现出应用前景。母体血浆游离胎儿DNA的片段组织特征含有大量与起源组织相关的分子信息,这为探索和开发新的临床诊断工具奠定了重要基础,这种发展可以成为无创产前检测(NIPT)的高性能诊断工具。基因测序技术的不断优化,胎儿游离DNA的探索也不断深入,使得胎儿游离DNA在妊娠早期产前诊断的筛查中得到广泛应用。本文专注于对胎儿游离DNA的片段组织学特性及其潜在的临床应用进行综述。With the increasing number and age of pregnant women,the incidence rate of various perinatal related diseases also increases.Recently,the research on the fragmentation of free DNA molecules in peripheral blood has attracted the interest of many researchers and has shown promising application prospects in the fields of tumors,immune diseases,and other fields.The fragment tissue characteristics of maternal plasma cell-free fetal DNA contain a large amount of molecular information related to the originating tissue,which lays an important foundation for exploring and developing new clinical diagnostic tools.This development can become a high-performance diagnostic tool for non-invasive prenatal testing(NIPT).With the continuous optimization of gene sequencing technology and the deepening exploration of cell-free fetal DNA,cell-free fetal DNA has been widely used in screening for prenatal diagnosis in early pregnancy.This article focuses on the histological characteristics of cell-free fetal DNA fragments and their potential clinical applications.

关 键 词：胎儿游离DNA 外周游离DNA 产前诊断 无创产前检测 诊断标志物 

分 类 号：R714.5[医药卫生—妇产科学]