新生儿遗传代谢病的筛查及分析

目的：应用串联质谱法筛查新生儿遗传代谢病的发病种类及阳性率，为治疗和实施干预提供重要依据。方法：选取2010年3月～2013年10月于我院出生的新生儿11258例，采用美国Sigma 公司的API3200串联质谱仪，对新生儿血液和尿液进行氨基酸和酰基肉碱检测分析。结果：检出患有遗传代谢病的患儿7例，阳性率0．63‰，其中氨基酸代谢异常4例，阳性率0．35‰，有机酸代谢异常2例，阳性率0．18‰，脂肪酸代谢异常1例，阳性率0．09‰。结论：应用串联质谱法早期筛查、诊断新生儿遗传代谢病，对降低新生儿的伤残率及死亡率具有重要意义。

Using Tandem Mass Spectrometry Screening Newborns Disease types and Positive Rate of Genetic Metabolic Disease

Objective：Using tandem mass spectrometry screening newborns disease types and positive rate of genetic metabolic dis -ease, provide important basis for treatment and to intervene .Methods：in our hospital was born in 2010-2013 , 11258 cases of newborn , detection of blood and urine and acyl amino acids carnitine analysis .Detection Results：7 cases, children with inherited metabolic disease were 0.63 ‰, Conclusion：the application of tandem mass spectrometry screening , early diagnosis of neonatal hereditary metabolic dis-ease, to reduce the disability rate and mortality of newborns is of great significance .