临沂地区新生儿遗传代谢病串联质谱结果分析

Analysis of the role and significance of tandem mass spectrometry in the screening and diagnosis of neonatal inherited metabolic diseases

目的探讨串联质谱技术在新生儿遗传代谢病筛查和诊断中的作用和意义,统计并了解我市遗传代谢病发病率。方法收集2014年7月～2017年9月临沂市出生的新生儿足跟血干血滤纸片,通过串联质谱技术检测样本中氨基酸及酰基肉碱等指标,以筛查氨基酸、有机酸和脂肪酸代谢病共48种遗传代谢病,可疑阳性者进一步确诊。结果共筛查83 570例新生儿,可疑阳性2002例,确诊16例,包括氨基酸代谢病1例(高甲硫氨酸血症),有机酸代谢病6例(甲基丙二酸血症5例,戊二酸血症Ⅰ型1例),脂肪酸代谢病9例(原发性肉碱缺乏症7例、短链酰基辅酶a脱氢酶缺乏症2例)。结论应用串联质谱技术在全市范围内筛查并确诊16例病例,实现了新生儿遗传代谢病早发现早治疗的目的,有效保障儿童健康,降低出生缺陷,提高出生人口素质。

Objective： Explore the role and significance of tandem mass spectrometry in the screening and diagnosis of neonatal inherited metabolic diseases, counting and understanding the incidence of inherited metabolic diseases in our city. Methods： Collect heel dried blood filter from july 2014 to september 2017 newborns of linyi.according to tandem mass spectrometry to detect amino acids and acyl carnitine indicators, aim to screening 48 kinds of diseases such as amino acids, organic acids and fatty acids metabolic, those suspicious samples were further confirmed. Results： The screening number was 83570, 2002 were suspected positive, and 16 were confirmed, including amino acid metabolic disease 1 case （high methionine bematic disease） , organic acid metabolic disease 6 cases （methyl maionic acid hematic disease 5 cases, glutaric acidemia I type 1 case） , fatty acid metabolism disease 9 cases （primary carnitine deficiency 7 cases, short chains of acyl coenzyme a dehydrogenase deficiency 2 cases） . Conclusions： Application of tandem mass spectrometry to the city within the scope of screening and diagnosis of 16 cases, implement the newborn genetic metabolic disease early found early treatment, the purpose of effectively protect children＇ s health, reduce birth detects, improve the birth population quality.