串联质谱技术在惠州市新生儿遗传代谢病筛查中的应用价值分析

Application Value Analysis of Tandem Mass Spectrometry in Screening of Neonatal Genetic Metabolic Diseases

目的分析串联质谱技术在惠州市新生儿遗传代谢病筛查中的应用价值。方法选择惠州市第二妇幼保健院2017年1月—2017年6月筛查病例5000例新生儿作为观察对象,均开展串联质谱技术的新生儿遗传代谢病筛查,观察串联质谱技术在新生儿遗传代谢性病筛查中的价值。结果5000例新生儿中确诊为遗传代谢病的患儿16例,其中脂肪酸代谢异常患儿3例,有机酸代谢异常患儿4例,氨基酸代谢异常患儿9例,筛查的敏感性高达100.00%,确诊后针对患儿展开针对性干预及治疗后随访发现存在3例智力发育障碍、代谢紊乱及运动发育迟缓患儿。结论在新生儿遗传代谢病筛查过程中实施串联质谱技术的效果十分显著,具有较高的敏感性及特异性,为患儿预后及治疗奠定基础。

Objective To analyze the application value of tandem mass spectrometry in screening of neonatal genetic metabolic diseases. Methods 5 000 cases of neonates screened in the hospital from January,2017 to June,2017 were selected as observation objects. Screening of neonatal genetic metabolic diseases by tandem mass spectrometry was carried out,and the value of tandem mass spectrometry in screening of neonatal genetic metabolic diseases was observed. Results 16 in 5 000 neonatal cases were diagnosed as inherited metabolic disease,in which children with fatty acid metabolism in 3 patients,organic acid metabolism in 4 patients,and amino acid metabolic abnormalities in 9 patients. The sensitivity of the screening was as high as 100. 00%. After diagnosis for children with a targeted intervention and follow-up after treatment,3 cases of developmental disorders,metabolic disorders and developmental delay were found. Conclusion The application of tandem mass spectrometry in screening of neonatal genetic and metabolic diseases is very effective,and has high sensitivity and specificity,laying a foundation for the prognosis and treatment of the children.