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出生缺陷是引起新生儿残疾与死亡的主要原因,通过新生儿筛查,使得遗传疾病得以早诊断、早治疗,减少残疾患儿和降低新生儿死亡率。我筛查中心采用串联质谱技术对山西省六地市进行了新生儿遗传代谢病筛查工作,本文介绍了新生儿遗传代谢病筛查的方法、结果、现状和意义,为进一步改善和促进我国的新生儿遗传代谢病筛查工作提供信息支持。
Birth defects are the leading cause of disability and death in newborns. Newborn screening enables early diagnosis and early treatment of genetic diseases, reducing children with disabilities and reducing neonatal mortality. I screening center using tandem mass spectrometry technology in six cities of Shanxi Province conducted a neonatal genetic metabolic disease screening work, this article describes the neonatal genetic metabolic disease screening methods, results, status quo and significance, in order to further improve and promote China Newborn genetic metabolic disease screening work to provide information support.