早产和足月新生儿串联质谱筛查切值的建立  

Establishment of cut-off value for tandem mass spectrometry screening of preterm and term neonates

作　　者：王琼[1] 齐志业[1] 姚勤[1] 段江[1] 钟庆华[1] 张彩营[1] 梁琨[1] WANG Qiong;QI Zhiye;YAO Qin;DUAN Jiang;ZHONG Qinghua;ZHANG Caiying;LIANG Kun(Neonatal Screening Center of First Affiliated Hospital of Kunming Medical University,Yunnan Kunming 650032,China)

机构地区：[1]昆明医科大学第一附属医院新生儿遗传代谢病筛查中心,云南昆明650032

出　　处：《中国妇幼健康研究》2022年第3期36-40,共5页Chinese Journal of Woman and Child Health Research

摘　　要：目的分析昆明医科大学第一附属医院新生儿遗传代谢病筛查中心不同出生胎龄新生儿干血斑中氨基酸、游离肉碱和酰基肉碱水平,并分别建立其参考区间,降低假阳性率或假阴性率,提高阳性预测值。方法选取2013年1月至2020年12月在昆明医科大学第一附属医院新生儿遗传代谢病筛查中心做串联质谱筛查检测的52526例新生儿干血斑标本作为研究对象,根据出生时胎龄不同分为早产组(32周≤胎龄<37周,n=5694)和正常孕周组(37周≤胎龄≤42周,n=46832),采用串联质谱法对其氨基酸、游离肉碱和酰基肉碱浓度进行检测及比较,并分别建立其参考区间(P_(0.5)~P_(99.5))。结果11种氨基酸及C0、C2、C3、C4、C5、C6、C8、C10、C14、C14:2、C16:1、C18:2的99.5%上限值,早产组高于正常孕周组;C6DC、C12、C16的99.5%上限值,早产组低于正常孕周组。C0的0.5%下限值,早产组高于正常孕周组;瓜氨酸、甲硫氨酸、C16、C18、C18:1的0.5%下限值,早产组低于正常孕周组。其余酰基肉碱的0.5%下限值与99.5%上限值在两组间无明显变化或相差不大。用重新设定的参考区间对部分筛查质量指标做前后对比分析,发现假阳性率在早产组和正常孕周组分别由8.17%、4.86%下降到3.72%、1.48%,差异有统计学意义(χ^(2)值分别为18.480、16.359,P<0.05);阳性预测值分别由0.56%、1.44%上升到2.17%、3.41%,差异有统计学意义(χ^(2)值分别为11.898、12.149,P<0.05)。结论不同胎龄新生儿氨基酸、游离肉碱和酰基肉碱浓度存在差异,分别建立了不同胎龄新生儿氨基酸、游肉离碱和酰基肉碱筛查的参考区间,为新生儿氨基酸、脂肪酸和有机酸代谢障碍性疾病的筛查及诊断提供了参考依据。Objective To analyze the levels of amino acids,free carnitine and acyl carnitine in the dried blood spots of neonates with different gestational age(GA)in the First Affiliated Hospital of Kunming Medical University,and to establish their reference ranges,decrease false positive rate or false negative rate,and increase positive predictive values.Methods 52526 cases of neonatal dried blood spots received tandem mass spectrometry screening between January 2013 and December 2020 in Neonatal Screening Center of First Affiliated Hospital of Kunming Medical University were selected as the research objects.According to different GA,they were divided into preterm infant group(32weeks≤GA<37weeks,n=5694)and term infant group(37weeks≤GA≤42weeks,n=46832).The concentrations of amino acids,free carnitine and acyl carnitine were detected by tandem mass spectrometry and compared,and their reference ranges were established respectively(P_(0.5)~P_(99.5)).Results The 99.5%upper limits of 11 amino acids,and C0,C2,C3,C4,C5,C6,C8,C10,C14,C14:2,C16:1 and C18:2 were higher in the preterm infant group than those in the term infant group.The 99.5%upper limits of C6DC,C12 and C16 were lower in the preterm infant group than those in the term infant group.The 0.5%lower limit of C0 in preterm infant group was higher than that in term infant group.The 0.5%lower limits of citrulline,methionine,C16,C18 and C18:1 were lower in the preterm infant group than those in the term infant group.The 0.5%lower limit and 99.5%upper limit of other acyl carnitine had no significant change or little difference between the two groups.A comparative analysis of some screening quality indicators before and after the reset of the reference range showed that the false positive rate decreased from 8.17%and 4.86%to 3.72%and 1.48%in the preterm infant group and the term infant group,respectively.And the positive predictive values increased from0.56%and 1.44%to 2.17%and 3.41%,respectively.The differences were all statistically significant(P<0.05).Conclusion There a

关 键 词：新生儿筛查 氨基酸 游离肉碱 酰基肉碱 串联质谱 参考区间 

分 类 号：R174[医药卫生—妇幼卫生保健]