不同品牌串联质谱仪新生儿遗传代谢病筛查结果比对

Comparison of different-brand tandem mass spectrometers for newborn screening of genetic metabolic diseases

目的探讨不同串联质谱检测系统新生儿遗传代谢病筛查结果的可比性和临床接受性。方法采用QSight 210MD串联质谱仪(简称QSight 210MD)和UPLC I-Class Xevo TQD串联质谱仪(简称Xevo TQD)分别检测40例新生儿干血斑样本中的氨基酸、游离肉碱和酰基肉碱水平。参照美国临床实验室标准化协会(CLSI)EP9-A2文件,对QSight 210MD与Xevo TQD的批内和批间精密度、相关性及临床可接受性进行评价。结果 QSight 210MD和Xevo TQD各比对项目的批内和批间精密度均<7%,符合临床要求。QSight 210MD与Xevo TQD之间除戊二酰肉碱(C5DC)、己酰肉碱(C6)、辛酰肉碱(C8)项目的r<0.975外,其他项目的r值均>0.975。所有项目的相对系统误差(SE%)均<1/2全国室间质量评价允许总误差(TEa),临床均可接受。结论 QSight 210MD与Xevo TQD之间除C5DC、C6、C8项目外,其他新生儿遗传代谢病筛查项目检测结果的相关性均良好,满足临床要求。对不具有可比性的项目,有必要针对不同检测系统建立不同的参考区间。

Objective To investigate the comparability and clinical acceptability of the screening results of neonatal genetic metabolic diseases with different tandem mass spectrometry determination systems. Methods The QSight 210MD tandem mass spectrometer(referred to as QSight 210MD) and the UPLC I-Class Xevo TQD tandem mass spectrometer(referred to as Xevo TQD) were used to determine the levels of amino acids,free carnitine and acyl carnitine in dried blood spot samples of 40 newborns. According to the EP9-A2 document of the Clinical and Laboratory Standards Institute(CLSI),the intra-assay and inter-assay precisions,correlation and clinical acceptabilities of QSight 210MD and Xevo TQD were evaluated. Results The intra-assay and inter-assay precisions of each comparison project of QSight 210MD and Xevo TQD were both <7%,which met the clinical requirements.Between QSight 210MD and Xevo TQD,except for glutaryl carnitine(C5DC),caproyl carnitine(C6) and octanoyl carnitine(C8),r were <0.975,and r were >0.975 for the other items. The relative systematic error(SE%) of all the items was <1/2 allowable total error(TEa) of the national inter-room quality assessment,which was clinically acceptable. Conclusions Except for C5DC,C6 and C8,between QSight 210MD and Xevo TQD,the results of the other neonatal genetic metabolic disease screening items have good correlations,which can meet the clinical requirements. For the items that are not comparable,it is necessary to establish different reference intervals for different determination systems.