辽源地区2011—2016年新生儿遗传代谢病筛查回顾性分析

Retrospective Analysis of Inherited Metabolic Diseases Screening in Liaoyuan Area From 2011 to 2016

目的了解吉林省辽源地区串联质谱技术新生儿遗传代谢病筛查结果。方法利用串联质谱技术对辽源地区出生且自愿接受筛查的新生儿10 503例进行遗传代谢病筛查,同时利用文献检索,比较分析相关遗传代谢病的检出率。结果初筛共筛查出疑似阳性149例,筛查阳性率为1.4%;召回疑似阳性病例146例,召回率为97.99%。进一步复查确诊阳性病例3例,遗传代谢病总发病率为0.03%;其中氨基酸代谢病2例,被诊断为苯丙酮尿症,检出率为0.019%;有机酸代谢异常病例1例,诊断为甲基丙二酸血症,检出率为0.009%。结论吉林省辽源地区遗传代谢病发病率相对较高,应用串联质谱技术进行新生儿筛查可及时发现遗传代谢病患儿,大大提高检出率,降低出生缺陷,提高人口素质。

Objective To investigate the results of tandem mass spectrometry of neonatal inherited metabolic diseases in Liaoyuan area,Jilin province.Methods10503neonates born and voluntarily screened in Liaoyuan area were screened by tandem mass spectrometry.The detection rate of related inherited metabolic diseases was analyzed by literature search.Results149cases of suspected positive were screened by screening,the positive rate of screening was1.4%;146cases of suspected positive cases were recalled,with a recall rate of97.99%.The total incidence of genetic metabolic disease was0.03%(3cases),and2cases of amino acid metabolism were diagnosed as phenylketonuria with a detection rate of0.019%.1case of abnormal organic acid metabolism was diagnosed as Methylmalonic acidemia,the detection rate was0.009%.Conclusion The incidence of inherited metabolic diseases in Liaoyuan area of Jilin Province is relatively high.The application of tandem mass spectrometry for neonatal screening can detect the children with inherited metabolic diseases,improve the detection rate,reduce the birth defects and improve the population quality.