串联质谱技术在东莞地区新生儿遗传代谢病筛查中的初步应用  

Preliminary Application of Tandem Mass Spectrometry in Newborn Screening for Inherited Metabolic Diseases in Dongguan

作　　者：叶立新[1] 袁晃堆[1] 陈锦国[1] 黄小玲[1] 

机构地区：[1]东莞市妇幼保健院,广东东莞523002

出　　处：《深圳中西医结合杂志》2015年第10期18-20,共3页Shenzhen Journal of Integrated Traditional Chinese and Western Medicine

基　　金：东莞市科技局立项课题资助项目(201210515007185)

摘　　要：目的:初步了解东莞地区新生儿遗传代谢病的发病情况,探讨在本地区广泛开展新生儿遗传代谢病串联质谱筛查的可行性。方法:采用串联质谱检测技术,通过分析28 897例新生儿滤纸干血斑中多种氨基酸、酰基肉碱的浓度水平及其浓度比值进行对多种氨基酸、有机酸、脂肪酸代谢性疾病的筛查,对筛查阳性者召回进行进一步确诊。结果:筛查阳性358例,确诊6例,分别为氨基酸代谢病4例、脂肪酸代谢病2例,敏感性为100%,特异性为98.78%,阳性率为1/4816,阳性预测值为1.68%。结论:串联质谱技术准确可靠,高效、价廉,适宜广泛用于开展新生儿遗传代谢病筛查。Objective A preliminary understanding of the incidence of neonatal inherited metabolic diseases in Dongguan area,to explore the feasibility in the region to carry out a wide range of newborn screening for inherited metabolic diseases by tandem mass spectrometry. Methods Using tandem mass spectrum detection to analysis of 28 897 cases of neonatal dried blood spots in a variety of amino acids, acylcarnitine concentration and concentration ratio for screening a variety of amino acids, organic acids, fatty acid metabolic diseases, screening positive recall for further diagnosis. Results Screening was positive in 358 cases, 6 cases were diagnosed, respectively, the amino acid metabolism disease in 4 cases, fatty acid metabolism disease in 2 cases, the sensitivity was 100 %, specificity was 98.78 %, positive rate was 1/4816, the positive predictive value was 1.68 %. Conclusion Tandem mass spectrometry is accurate and reliable, efficient, cheap, suitable for widely used in development of newborn screening for inherited metabolic diseases.

关 键 词：串联质谱 新生儿疾病筛查 遗传代谢病 

分 类 号：R722.1[医药卫生—儿科]