染色体非整倍体无创产前检测技术质控要点及临床应用进展  

Quality control and clinical application of non-invasive prenatal test for chromosomal aneuploidy

作　　者：曲守方[1] 于婷[1] 孙楠[1] 李丽莉[1] 陈芳 吴英松 黄杰[1] 

机构地区：[1]中国食品药品检定研究院,北京100050 [2]深圳国家基因库,广东深圳518083 [3]南方医科大学检验与生物技术学院,广东广州510515

出　　处：《分子诊断与治疗杂志》2017年第5期295-300,324,共7页Journal of Molecular Diagnostics and Therapy

基　　金：广州市重大科技攻关项目(2014Y2-00220)

摘　　要：基于下一代测序(next generation sequencing,NGS)技术的染色体非整倍体无创产前检测技术是产前诊断领域的重要突破,其检测原理简单、技术灵敏度和准确性很高,已成为目前非整倍体产前筛查发展及推广的主要方向。但由于NGS技术检测流程复杂,影响因素较多,需要在样本采集、运输、核酸提取、文库构建、上机测序、数据分析各个关键节点进行质控。同时,由于其试剂成分复杂、技术难度大、社会关注度高,也需对注册产品指标进行明确。鉴于此,本文对染色体非整倍体无创产前检测技术质控要点、产品规范要求及临床应用状况进行简要评述。Non-invasive prenatal testing（NIPT） for fetal aneuploidies by next generation sequencing of maternal plasma DNA is a developing, innovative technology. This technology is highly sensitive and specific and has been validated in multiple clinical trials. NIPT has been recommended as the priorities for fetal aneuploidy by several professional societies. However, in consideration of the complicated workflow and many influencing factors, quality control throughout the entire process, such as sample collection and transportation,cf DNA isolation, library construction, sequencing, data analysis, is essential. Likewise, because of complex reagent ingredients, difficult technical requirements and high social concerns, it is also necessary to define the product performance criteria. In view of this, the issue of quality control, specifications and the progress of the clinical application progress of NIPT based on NGS technology will be briefly commented in this paper.

关 键 词：染色体非整倍体无创产前检测 下一代测序 质控要点 产品规范 

分 类 号：R714.5[医药卫生—妇产科学]