无创DNA产前检测血浆质控物的研究进展  

Research progress in quality control materials used for non-invasive prenatal testing

作　　者：罗婷婷[1] 曾艳[1] 钱燕娣 Luo Tingting;Zeng Yan;Qian Yandi(Shaoxing maternal and child health care hospital,Shaoxing 312000,China)

机构地区：[1]绍兴市妇幼保健院,绍兴312000

出　　处：《中华检验医学杂志》2024年第5期585-588,共4页Chinese Journal of Laboratory Medicine

基　　金：绍兴市妇幼保健院科技研究发展基金(2021YF001)。

摘　　要：无创产前基因检测(NIPT)是应用高通量基因测序技术检测孕妇外周血中胎儿游离DNA片段,以评估胎儿常见染色体非整倍体(T21、T18、T13)风险的一种产前筛查方式,为防治出生缺陷做出了极大的贡献。为确保检测结果的准确可靠,须在检测中加入质控物对检测全过程进行严格的质量控制。但目前大多数检测平台的血浆提取过程中缺乏血浆质控物。在不同平台的室间质评中,也需要通用的血浆质控物。为解决这个质控问题,近年来出现了6种NIPT血浆质控物的制备策略,根据其基质和阳性DNA的来源不同,分别具有不同的适用范围和优缺点。Non-invasive prenatal testing(NIPT)is a prenatal screening method that uses high-throughput gene sequencing technology to detect fetal free DNA fragments in maternal peripheral blood,in order to evaluate the risk of common chromosomal aneuploidy(T21,T18,T13)in fetuses.It has made great contributions to the prevention and treatment of birth defects.To ensure the accuracy and reliability of the testing results,it is necessary to add quality control materials for strict quality control throughout the entire testing process.However,most testing platforms lack plasma quality control materials during plasma extraction.Universal plasma quality control materials are also needed in the external quality assessment on different platforms.To solve this quality control problem,six strategies for the preparation of NIPT plasma control materials have emerged in recent years,with different application ranges,advantages and disadvantages based on their different sources of matrix and positive DNA.

关 键 词：产前诊断 无创产前基因检测 质控物 自制 质量控制 

分 类 号：R714.5[医药卫生—妇产科学]