串联质谱技术应用于新生儿遗传代谢性疾病筛查的临床研究

The Clinical Research on Tandem Mass Spectrometry in Neonatal Screening for Genetic Metabolic Diseases

目的:探讨串联质谱技术对于新生儿遗传代谢性疾病的筛查价值。方法:选取2010年11月-2013年1月惠州市惠阳区的新生儿32 252例作为研究对象,采用串联质谱技术进行遗传代谢病筛查,并对确诊病例的病学特点、临床预后进行随访分析。结果:串联质谱技术共筛查出270例为阳性,其中11例确诊为新生儿遗传代谢性疾病,确诊率为4.07%。其中,6例氨基酸代谢异常,3例有机酸代谢异常,2例脂肪酸代谢异常,诊治率为100%。结论:串联质谱技术对于新生儿遗传代谢性疾病的筛查具有较高的敏感性与特异性,有利于遗传代谢性疾病的早期筛查和诊断。

Objective：To investigate the screening value of tandem mass spectrometry in neonatal screening for genetic metabolic diseases.Method：32 252 newborns of Huiyang district in Huizhou city from November 2010 to January 2013 were selected as the research objects,all newborns received genetic screening for metabolic diseases by tandem mass spectrometry,and the disease characteristics,clinical outcomes of the confirmed cases were followed up and analyzed.Result：A total of tandem mass spectrometry screening of 270 cases were positive,including 11 cases diagnosed as neonatal genetic metabolic diseases,the diagnosis rate was 4.07%.Among them,6 cases of amino acid metabolism,organic acid metabolism in 3 cases,fatty acid metabolism in 2 cases,the rate of the diagnosis and treatment was 100%.Conclusion：Tandem mass spectrometry for newborn screening for inherited metabolic diseases with high sensitivity and specificity,it is conducive to early screening and diagnosis for the inherited metabolic diseases.