新生儿遗传代谢病筛查中串联质谱技术应用价值观察  

Observation on the application value of tandem mass spectrometry in the screening of neonatal genetic and metabolic diseases

作　　者：邹博群 谢晓翔 毛雯雯 ZOU Boqun;XIE Xiaoxiang;MAO Wenwen(Department of Neonatology,Jiujiang Maternal and Child Health Hospital,Jiujiang,Jiangxi,332000,China)

机构地区：[1]九江市妇幼保健院新生儿科,江西九江332000

出　　处：《当代医学》2023年第28期46-49,共4页Contemporary Medicine

摘　　要：目的探究新生儿遗传代谢病筛查中串联质谱技术应用价值。方法选取2020年4月至2021年10月于九江市妇幼保健院行疾病筛查的10122例新生儿作为研究对象,均行串联质谱技术筛查。分析串联质谱筛查结果,剔除已确诊的遗传代谢病新生儿,依据胎龄分为早产组(n=1476)与足月组(n=8646);依据体质量分为体质量≤2500 g组(n=373)与体质量>2500 g组(n=9749);依据不同采血时间分为3~7 d组(n=9340)与>7 d组(n=782),比较同一分组标准下新生儿各氨基酸浓度[精氨酸(ARG)、丙氨酸(ALA)、瓜氨酸(CIT)、甲硫氨酸(MET)、甘氨酸(GLY)、苯丙氨酸(PHE)、鸟氨酸(ORN)、酪氨酸(TYR)、脯氨酸(PRO)、缬氨酸(VAL)]。结果本研究所有新生儿中经串联质谱筛查明确诊断16例。足月组CIT、GLY、ORN、PRO、TYR、VAL浓度均高于早产组,ARG、PHE浓度均低于早产组,差异有统计学意义(P<0.05);两组ALA及MET浓度比较差异无统计学意义。体质量≤2500 g组ALA、ARG、GLY、PHE浓度均高于体质量>2500 g组,PRO、TYR、VAL浓度均低于体质量>2500g组,差异有统计学意义(P<0.05);两组MET、CIT、ORN浓度比较差异无统计学意义。3~7d组ALA、GLY、MET、ORN、PHE、TYR浓度均高于>7 d组,ARG、CIT、VAL浓度均低于>7 d组,差异有统计学意义(P<0.05);两组PRO浓度比较差异无统计学意义。结论串联质谱技术在新生儿遗传代谢病筛查中具有较高的临床应用价值,在临床应用中可依据新生儿胎龄、出生体质量及采血时间明确截断值,降低假阳性率,提高诊断效能。Objective To explore the application value of tandem mass spectrometry in the screening of neonatal genetic and metabolic diseases.Methods A total of 10,122 newborns who underwent disease screening in Jiujiang Maternal and Child Health Hospital from April 2020 to October 2021 were selected as the research subjects,all of which were screened by tandem mass spectrometry.Analyzing the results of tandem mass spec-trometry screening,excluding newborns with diagnosed genetic metabolic diseases,and they were divided into the preterm group(n=1476)and the term group(n=8646)according to gestational age;according to weight,they were divided into the body weight≤2500 g group(n=373)and the body weight>2500 g group(n=9749);according to different blood collection time,they were divided into 3-7 d group(n=9340)and>7d group(n=782),the amino acid concentration(arginine[ARG],Alanine[ALA],citrulline[CIT],methionine[MET],glycine[GLY],phenylalanine[PHE],orni-thine[ORN],tyrosine[TYR],proline Acid[PRO],Valine[VAL])in neonates were compared under the same grouping criteria..Results Among all the newborns participating in this study,16 cases were clearly diagnosed by tandem mass spectrometry.The concentrations of CIT,GLY,ORN,PRO,TYR and VAL in the term group were higher than those in the preterm group,and the concentrations of ARG and PHE were lower than those in the preterm group,the differences were statistically significant(P<0.05);there was no significant difference in concentrations of ALA and MET be-tween the two groups.The concentrations of ALA,ARG,GLY and PHE in the body weight≤2500 g group were higher than those in body weight>2500 g group,and the concentrations of PRO,TYR and VAL were lower than those in body weight>2500 g group,the differences were statistical-ly significant(P<0.05);there was no significant difference in the concentrations of MET,CIT and ORN between the two groups.The concentrations of ALA,GLY,MET,ORN,PHE and TYR in the 3-7 d group were higher than those in the>7 d group,while the concentrations of ARG,CIT

关 键 词：新生儿 遗传代谢病 串联质谱技术 疾病筛查 应用价值 

分 类 号：R722.11[医药卫生—儿科]