摘要
目的:分析串联质谱初筛新生儿遗传代谢疾病情况。方法:2015年11月16日—2019年12月31日来自于贵阳地区新生儿干血滤纸片样本105742例,均行氨基酸与酰基肉碱谱(11种氨基酸、30种酰基肉碱、游离肉碱和琥珀酰丙酮)串联质谱技术检测,筛查多种遗传代谢病,统计分析不同时期、不同地区初筛阳性率,分析初筛阳性新生儿特征。结果:新生儿多种遗传代谢病串联质谱筛查初筛阳性1413例,初筛阳性率为1.34%;共确诊14例患有遗传代谢疾病,群体患病率1/7553。不同年份中2018年初筛阳性率相对较高,阳性率为2.40%;从送样地市来看,以贵阳市西部、北部较高,东部、南部相对较低。回归分析,早产、低体重儿是初筛阳性新生儿特征因素。结论:贵阳地区新生儿多种遗传代谢病有一定患病率,初筛阳性率在不同年份、地区有一定不同,早产儿、低体重儿初筛阳性率较高,应加强串联质谱新生儿多种遗传代谢病筛查,从而尽早发现、诊断和治疗疾病。
Objective:To explore the preliminary screening situation of neonatal genetic metabolic diseases by tandem mass-spectrometric technique.Methods:The dry blood filter paper samples of 105,742 newborns in Guiyang area from November 16,2015 to December 31,2019 were collected,and tandem mass-spectrometric technique of amino acid and acylcarnitine profiles(11 kinds of amino acids,30 kinds of acylcarnitine,free Carnitine,and succinylacetone)were performed to screen a variety of genetic metabolic diseases of these newborns.The positive rates of initial screening of the newborns during different periods and from different regions were statistically analyzed,and the characteristics of the newborns with positive results in initial screening were analyzed.Results:There were 1413 neonates with multiple positive genetic metabolic diseases screened by tandem mass-spectrometric technique,and the positive rate was 1.34%.A total of 14 neonates were diagnosed with genetic metabolic diseases,and the population prevalence was 1/7553.The screening positive rate of the neonates in early 2018 was 2.40%,which was relatively high in different years.In the neonates from different prefectures and municipia,the positive rate in western and northern of Guiyang were higher,while which in the eastern and southern of Guiyang were lower.Regression analysis showed that the preterm birth and the low birth weight of the neonates were the characteristic factors of the positive neonates in preliminary screening.Conclusion:There are certain prevalence of the neonatal multiple genetic metabolic diseases in neonates in Guiyang area.The positive rate of neonatal genetic metabolic diseases during the initial screening of these neonates born in different year and from different regions is different,and which of the premature infants or the low weight neonates are higher.Therefore,tandem mass-spectrometric technique should be strengthened to screen multiple genetic metabolic diseases of the neonates,so as to detect,diagnose,and treat these diseases as soon as possible.
作者
杨雪
李林洁
张晓怡
刘兴宇
汤贤英
YANG Xue;LI Linjie;ZHANG Xiaoyi;LIU Xingyu;TANG Xianying(Guiyang Maternal and Child Health Care Hospital,Guithou Province,550003)
出处
《中国计划生育学杂志》
2022年第6期1404-1407,共4页
Chinese Journal of Family Planning
基金
2019年贵州省卫生健康委科学技术基金项目(gzwjkj2019-1-198)。
关键词
新生儿
遗传代谢病
串联质谱技术
筛查
特征
Neonates
Genetic metabolic diseases
Tandem mass-spectrometric technique
Screening
Characteristic
