新生儿遗传代谢病串联质谱筛查存在的问题及展望  

Current problems and prospect on tandem mass spectrometry based newborn inherited metabolic diseases screening

作　　者：尚世强[1] 杨建滨[1] 王治国[2] 

机构地区：[1]浙江省新生儿疾病诊治重点实验室生殖遗传教育部重点实验室浙江大学医学院附属儿童医院实验检验中心,杭州310051 [2]北京医院卫生部临床检验中心

出　　处：《中华检验医学杂志》2016年第4期237-239,共3页Chinese Journal of Laboratory Medicine

摘　　要：应用串联质谱技术进行新生儿遗传代谢性疾病筛查目前在全国呈现蓬勃发展之势。随着筛查覆盖面扩大和筛查疾病谱的拓展，加强筛查质量管理、提升筛查性能、降低假性率是现阶段面临的重要工作，包括血片质量保证、实验流程质量控制、检验程序质量验证、实验室质量评估和判读方法的质量优化等方面。伴随着质谱设备更新换代以及信息软件、自动化流程的发展和筛查项目的拓展，通过数据共享和交流增进实验室之间的合作，促进区域协作，将引领全国遗传代谢病串联质谱筛查项目进入一个新阶段。Newborn screening of inherited metabolic diseases by tandem mass spectrometry is flourishing in our country. With expansion of the coverage and spectrum of diseases, it is important to strengthen the quality management, optimize the performance and reduce the false rate currently, such as quality assurance of the specimens, quality control of the process, quality verification of the test procedure, quality evaluation of the laboratory and quality optimization of the interpretation method. Along with development of the equipment, software and project, promotion of regional collaboration by data and experience sharing will be more critical in the future, and national neonatal screening by tandem mass spectrometry will step into a new stags

关 键 词：新生儿筛查 遗传性疾病 先天性 代谢缺陷 先天性 串联质谱法 

分 类 号：R722.1[医药卫生—儿科]