开封地区91406例新生儿48种遗传代谢病筛查分析

Analysis of screening of 48 kinds of inherit metabolic disease in newborns from 91 406 cases in kaifeng area

目的分析和总结开封地区新生儿48种遗传代谢病筛查现状。方法利用串联质谱法对48种遗传性代谢病进行筛查和诊断。结果共计筛查新生儿血样本91 406份。其中初筛阳性2051份,初筛阳性召回1218份,筛查阳性率0.36‰筛查病种发病率0.33‰。结论开封地区新生儿遗传代谢病筛查病种发病率高于全国平均水平。通过新生儿遗传代谢病筛查,使患儿得到早期的诊断和治疗,从而提高开封地区出生人口素质。

Objective：To anlysize and summarize the neonatal screening for 48 kinds of inherited Metabolic diseases in kaifeng area. Methods：The tandem mass spectrometry was used to screening and diagnosising 48 kinds of Inherit Metabolic Disease. Results：The total were 91 406 newborn screening blood samples.2051 positive cases,1218 recall positive cases,positive rate of 0.36‰,The positive rate of diagnosis screening is 0.33‰. Conclusion：The incidence rate of the neonatal screening for 48 kinds of inherited Metabolic diseases in kaifeng area is higher than the national average. Through newborn screening for inherited metabolic diseases,children can receive early diagnosis and treatment. It will improve the quality of births in Kaifeng area.