新生儿遗传代谢病串联质谱筛查带教思考

Teaching thinking of newborn screening through tandem mass spectrometry

通过教学实践,使实习生和进修生熟练掌握新生儿遗传代谢病串联质谱(MS/MS)筛查的实验原理及仪器使用方法,了解应用MS/MS技术开展新生儿疾病筛查中常见氨基酸或肉碱异常及其临床意义,为新生儿遗传代谢病串联质谱筛查的大规模开展奠定坚实的基础。

Through the teaching practice,the interns and trainees can understand and master the experimental methods and principles of newborn screening through tandem mass spectrometry analysis,also,they can understand common amino acids or carnitine abnormalities in neonatal genetic metabolic diseases screened through tandem mass spectrometry and their clinical significance,so as to provide a reliable experimental method and judgment basis for the screening of neonatal diseases.