摘要
目的了解串联质谱技术对本院新生儿遗传代谢性疾病的筛查情况。方法用串联质谱技术对2016年11月到2018年2月在本院出生10?039例活产新生儿进行氨基酸代谢疾病、脂肪酸代谢疾病、有机酸代谢疾病等26种遗传代谢病筛查。结果在这10?039例新生儿中,共筛查出可疑阳性病例37例(0.36%),其中氨基酸代谢病23例、脂肪酸氧化障碍14例;确诊1例苯丙酮尿症。结论串联质谱技术大幅度提高了筛查效率,及时诊治对提高出生人口素质具有重要意义。
Objective:To understand the screening of neonatal genetic metabolic diseases in tandem mass spectrometry. Methods:26 genetically-metabolic diseases such as amino acid metabolic diseases,fatty acid metabolic diseases,and organic acid metabolic diseases were screened for 10 039 live births born in this hospital from November 2016 to February 2018 using tandem mass spectrometry. Results:Of the 10 039 neonates,37(0.36%)were suspected to have been screened out. Among them,23 were amino acid metabolic diseases and 14 were fatty acid oxidation disorders. One confirmed case of phenylketonuria was confirmed. Conclusion:The tandem mass spectrometry technology has greatly improved the screening efficiency,and timely diagnosis and treatment is of great significance to improving the quality of the birth population.
作者
白洁
陈必良
BAI Jie(Department of Obstetrics and Gynecology,Xijing Hospital,First Affiliated Hospital of Air Force Medical University,710032)
出处
《中国优生与遗传杂志》
2018年第12期67-69,共3页
Chinese Journal of Birth Health & Heredity
关键词
串联质谱技术
新生儿遗传代谢性疾病
新生儿疾病筛查
Ttandemmassspectrometry
Neonatal genetic metabolic diseases
Neonatal disease screening
