贵阳地区早产儿干血斑中氨基酸、肉碱切值探讨  

Exploration of Cut-off Values of Amino Acid and Carnitine Levels in Dry Blood Spots of Premature Infants in Guiyang

作　　者：李林洁[1] 杨雪[1] 张晓怡 刘兴宇 张禾璇 LI Lin-jie;YANG Xue;ZHANG Xiao-yi;LIU Xingyu;ZHANG He-xuan(Department of Eugenics and Genetics,Guiyang Maternal and Child Health Care Hospital,Guiyang 550003,Guizhou Province,China)

机构地区：[1]贵阳市妇幼保健院优生遗传科,贵州贵阳550003

出　　处：《罕少疾病杂志》2024年第5期118-121,共4页Journal of Rare and Uncommon Diseases

基　　金：2022年度贵阳市科技计划项目(筑科合同[2023]48-25号)。

摘　　要：目的探讨早产儿干血斑氨基酸、肉碱的合适临界值,以降低新生儿筛查中的假阳性率和召回患者数量。方法回顾性分析2019年~2022年在贵阳地区采用串联质谱技术进行遗传代谢病(IMD)筛查的新生儿临床数据。根据出生孕周分为2组:早产儿(出生孕周<37W)组7693例(男4418例,女3275例),足月儿(出生孕周≥37W)组137907例(男73324例,女64542例),干血斑中氨基酸、肉碱切值采用百分位数法(P0.5~P99.5)表示。结果早产儿及足月儿干血斑样本中11种氨基酸、31种肉碱均呈偏态分布,早产儿氨基酸与足月儿差异均有统计学意义(P<0.05),肉碱中除己酰基肉碱(C6)、癸二烯酰基肉碱(C10:2)与足月儿差异无统计学意义(P>0.05)外,其余肉碱各指标早产儿与足月儿差异有统计学意义(P<0.05)。结论建立贵阳地区早产儿氨基酸、肉碱参考区间,可为新生儿遗传代谢病筛查实验室判读串联质谱结果提供参考依据,减少可疑患儿的假阳性率,使筛查工作更加精准、高效。Objective To detective the cut-off values of amino acid and carnitine levels in dry blood spots of premature infants in Guiyang.Methods Data of newborn screening for inherited metabolic diseases(IMD)by tandem mass spectrometry in Guiyang from 2019-2022 were retrospectively analyzed.They were divided into premature infant group(n=7693,4418 males and 3275 females)and full-term infant group(n=137907,73324 males and 64542 females).The cut-off values of amino acid and carnitine levels in dry blood spots was expressed by percentile method(P0.5~P99.5).Results The 11 kinds of amino acids and 31 kinds of carnitine in preterm infants showed a skewed distribution,and the amino acids in the preterm infants and full-term infant group were significant different(P<0.05).Except for hexanoylcarnitine(C6)and decadienoylcarnitine(C10:2),the other carnitine indicators were significantly different between 2 groups(P<0.05).Conclusion The cut-off values of amino acids and carnitines of preterm infants in Guiyang area can provide a reference basis for the interpretation of tandem mass spectrometry results in newborn IMD screening laboratory,reduce the false positive rate and make the newborn screening work more accurate and efficient.

关 键 词：新生儿筛查 串联质谱 早产儿 

分 类 号：R722[医药卫生—儿科]