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目的对比串联质谱(tandem mass spectrometry,TMS)技术与茚三酮化学荧光法在新生儿高苯丙氨酸血症(hyperhenylalaninemia,HPA)筛查中的应用研究。方法分别采用串联质谱技术和茚三酮化学荧光法对不同浓度苯丙氨酸干血斑质控品及57405例新生儿干血斑样本进行检测,分析对比两种方法的精确性、准确性以及对新生儿高苯丙氨酸血症的筛查和诊断。结果 (1)精确度检测:茚三酮化学荧光法在低、高浓度水平检测苯丙氨酸的批内CV值分别为11.97%、9.29%,批间CV值分别为16.85%、11.50%;串联质谱法在低、高浓度水平检测苯丙氨酸的批内CV值分别为4.80%、4.06%,批间CV值分别为9.95%、9.37%。(2)准确度检测:两种实验方法检测结果均100%通过卫生部临检中心室间质评,与临检中心提供的靶值比较,化学荧光法呈正偏倚,串联质谱法呈负偏倚。(3)同时对57405例新生儿干血斑样本进行检测,茚三酮化学荧光法和串联质谱法检测初筛阳性率分别1.75%(1004例)、0.19%(110例);两种方法均确诊高苯丙氨酸血症24例,阳性预测值分别为2.39%、21.82%。结论串联质谱法检测苯丙氨酸较茚三酮化学荧光法具有更好的精确性,在新生儿HPA筛查中具有良好的阳性预测值,更适用于HPA的筛查。
Objective To compare the application of tandem mass spectrometry (TMS) and ninhydrin chemiluminescence in the screening of neonatal hyperhenylalaninemia (HPA). Methods The tandem mass spectrometry and Ninhydrin chemiluminescence were used to detect the dry blood spots of phenylalanine and 57,405 newborn blood spots respectively. The accuracy and accuracy of the two methods were analyzed and compared Screening and diagnosis of neonatal hyperphenylalaninemia. Results (1) Accuracy test: The CV of ninhydrin chemiluminescence method was 11.97% and 9.29% respectively at the low and high concentration levels, and the inter-assay CV values were 16.85% and 11.50%, respectively. The CV values of in-batch mass spectrometry for the detection of phenylalanine at low and high levels were 4.80% and 4.06%, respectively, and the inter-assay CV values were 9.95% and 9.37%, respectively. (2) Accuracy test: 100% of the two test methods passed the inter-laboratory quality assessment by the Ministry of Health clinical examination center, and compared with the target value provided by the clinical examination center, the chemical fluorescence method showed a positive bias and the tandem mass spectrometry method showed a negative bias. (3) At the same time, 57405 newborn blood spot samples were detected. The positive rates of ninhydrin chemiluminescence and tandem mass spectrometry were 1.75% (1004 cases) and 0.19% (110 cases) respectively. Both methods 24 cases were confirmed hyperphenylalaninemia, the positive predictive value was 2.39% and 21.82% respectively. Conclusions Tandem mass spectrometry is more accurate than ninhydrin chemiluminescence method in detecting phenylalanine and has good positive predictive value in HPA screening of neonates and is more suitable for screening of HPA.