摘要
目的探讨串联质谱技术在新生儿遗传代谢性疾病中的筛查应用。方法2014年3月—2015年11月,以419例新生儿作为研究对象,采用串联质谱技术进行遗传代谢病筛查,记录筛查结果并进行跟踪随访。结果在筛查的419例样本中,原血片复查15例,此15例中3例为疑似病例,但这3例再次复查后为正常。结论串联质谱法能够同时筛查新生儿遗传性代谢疾病多个病种,本文采用串联质谱技术建立了方法,同时讨论了影响新生儿筛查质量的几点因素,具有一定参考意义。对于这些影响质量的相关因素,工作及医护人员应加以注意,更好地保障患儿生活质量及生命安全。
Objective To investigate the application of tandem mass spectrometry in neonatal screening for inherited metabolic diseases.Methods 419 newborns were selected as the research objects,all newborns received genetic screening for metabolic diseases by tandem mass spectrometry.The results were recorded and followed up.Results Of the 419 newborns,15 blood spot specimens were reexamined,and 3 cases were suspected positive cases of the 15 specimens.The 3 newborns were inspected again and considered to be normal.Conclusion Tandem mass spectrometry for newborn screening can screen many inherited metabolic diseases simultaneously.In this paper,a method which is valueabl was established by tandem mass spectrometry,and some factors affecting the quality of neonatal screening were discussed.The medical staff should take note and ensure the life safety and quality of newborn.
作者
徐丹
曹鹏
周玉珍
许豪勤
王大为
XU Dan;CAO Peng;ZHOU Yuzhen;XU Haoqin;WANG Dawei(Science and Technology Branch,Jiangsu Province Academy of Traditional Chinese Medicine,Nanjing Jiangsu 210028,China;Obstetrics Department,Suzhou Hospital of Chinese Traditional and Western Medicine,Suzhou Jiangsu 215101,China;Reproductive Health Research Centre,Jiangsu Institute of Planned Parenthood Research,Nanjing Jiangsu 210036,China)
出处
《中国卫生标准管理》
2021年第24期12-15,共4页
China Health Standard Management
基金
江苏省科技基础设施建设计划——科技公共服务平台网络(BM2013058)。
关键词
遗传代谢病
串联质谱
新生儿筛查
出生缺陷
先天性
质量
inherited metabolic disorders
tandem mass spectrometry
newborn screening
birth defect
congenital
quality
