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

作　　者：万智慧[1] WAN Zhihui(Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing Maternal and Child Health Care Hospital,Beijing,100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院,北京100026

出　　处：《中国优生与遗传杂志》2022年第3期531-532,共2页Chinese Journal of Birth Health & Heredity

基　　金：北京市医院管理中心“青苗”计划(QML20201403)。

摘　　要：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.

关 键 词：新生儿筛查 遗传代谢病 串联质谱法检测 

分 类 号：R-4[医药卫生] G642[文化科学—高等教育学]