串联质谱技术对新生儿遗传代谢病的筛查及随访分析  

作　　者：钟婉秀 

机构地区：[1]广东省惠州市惠阳妇幼保健院,广东516001

出　　处：《当代医学》2014年第17期148-149,共2页Contemporary Medicine

摘　　要：目的对串联质谱技术对新生儿遗传代谢病的筛查以及随访进行分析和研究。方法此次调查研究主要以广东省惠州市惠阳妇幼保健院2012年5月～2013年5月收治的123231例新生儿为对象，采用串联质谱技术对所有新生儿进行遗传代谢病筛查，包括氨基酸代谢异常、有机酸代谢异常以及脂肪酸代谢性异常。并对确诊患儿实施流行病学特点、预后以及随访分析。结果经临床研究结果显示，有24例患儿确诊为新生儿遗传代谢疾病，其中有14例患儿确诊为氨基酸代谢异常，有7例患儿确诊为有机酸代谢异常，有3例患儿确诊为脂肪酸代谢异常。发病率为1：5135。串联质谱技术的筛查阳性预测值为2．02％，特异性为99．21％，敏感性为100％。所有确诊患儿经过随访调查，结果显示有5例患儿出现运动发育落后、智力发育落后以及代谢紊乱。结论经临床研究结果表明，采用串联质谱技术对新生儿进行遗传代谢病筛查，具有较高的特异性以及敏感性，能够尽早筛查以及诊断，然而阳性预测值不高，还需要深入发展和改进。Objective For tandem mass spectrometry for newborn genetic metabolic disease screening and follow-up were analyzed and studied. Methods The survey research in our hospital from May 2012 to May 2012, 123231 cases of neonatal as object, and using tandem mass spectrometry technology to all newborn screening for inherited metabolic disease, metabolic abnormalities metabolic abnormalities including amino acids, organic acids and fatty acids in metabolic abnormalities. And for children with confirmed the epidemiological characteristics, prognosis and follow-up analysis. Results Clinical research, according to the results of 24 cases of children with a diagnosis of newborn genetic metabolic diseases, including 14 cases diagnosed with amino acid metabolism, there are 7 cases diagnosed with organic acid metabolic abnormalities, there are 3 cases diagnosed with fatty acid metabolism. Incidence of 1 ： 5135. Tandem mass spectrometry screening positive predictive value of 2.02%, specificity of 99.21%, the sensitivity was 100%. All children with confirmed through follow-up survey, the result showed 5 cases appeared motor development backward, backward developmental and metabolic disorders. Conclusion The clinical research results show that using tandem mass spectrometry technology to neonatal screening for inherited metabolic disease, and has high specificity and sensitivity, to early screening and diagnosis, the positive predictive value is not high, however, still need further development and improvement.

关 键 词：串联质谱技术 新生儿遗传代谢病 筛查 随访 

分 类 号：R722.11[医药卫生—儿科]