摘要
目的开展遗传代谢病(IMD)的新生儿筛查检测,提高新生儿期IMD的早期诊断率。方法利用串联质谱(MS/MS)技术对416例可疑IMD新生儿及1928例无任何临床症状新生儿的血液样本进行IMD筛查。结果在高危新生儿筛查出阳性患儿41例,涉及IMD 11种,阳性率为9.86%。在无症状新生儿中筛查出阳性患儿6例,涉及IMD 3种,阳性率为0.31%。结论应用现有检测技术对新生儿期IMD尽早诊断,有助于早期治疗、改善预后。
Objective To enhance the rate of early diagnosis of inherited metabolic disease（IMD） occurring in neonatal period through selective screening. Methods The dry blood filter papers were tested by tandem mass spectrometry（MS/MS） technology in 416 neonates suspected to be with IMD and 1928 neonates without any clinical symptoms. Results Forty-one（9.86%） of the 416 high risk neonates were diagnosed with 11 kinds of IMD and 6（0.31%） of the 1928 normal neonates were diagnosed with 3 kinds of IMD. Conclusion Early diagnosis of IMD in neonatal period by current available screening techniques is helpful for earlier treatment and better prognosis.
出处
《江苏医药》
CAS
北大核心
2013年第2期168-170,共3页
Jiangsu Medical Journal
基金
河北省科学技术研究与发展计划项目(08276101D-29)
关键词
遗传代谢病
新生儿
串联质谱
Inherited metabolic disease
Neonate
Tandem mass spectrometry
