两种高苯丙氨酸血症检验方法的比较研究

A comparative study of two methods for detection of high blood glucose

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 tandem mass spectrometry （tandem mass spectrometry, TMS） and ninhydrin chemical fluorescence method in neonatal hyperphenylalaninemia （hyperhenylalaninemia, HPA） in the screening of the applied research. Methods： Using tandem mass spectrometry and ninhydrin chemical fluorescence method for different concentration of phenylalanine in dried blood spot control samples and 57405 cases of neonatal dried blood spot samples for testing, precision and accuracy. The comparison and analysis of two methods of neonatal hyperphenylalaninemia screening and diagnosis. Results： （1） Precision detection： ninhydrin chemical fluorescence in low and high level detecting phenylalanine CV value are 11.97% and 11.97% respectively in the batch, batch of CV value are 16.85% and 16.85% respectively; Tandem mass spectrometry in low and high level detecting phenylalanine CV value are 4.80% and 4.80% respectively in the batch, batch between CV were 9.95%, 9.37% respectively. （2） The accuracy of detection： two methods of experimental test results were 100% by the ministry of health visit center room stroma, and visit the center to provide the target value comparison, chemical fluorescence method was a positive bias, tandem mass spectrometry in negative bias. （3） 57405 cases of neonatal dried blood samples for testing, and ninhydrin chemical fluorescence and tandem mass spectrometry to detect early screening positive rate were 1.75% （1004 cases） , 1.75% （110 cases） ; Two methods were diagnosed high blood phenylalanine 24 cases, positive predictive value of 2.39%, 21.82% respectively. Conclusion： The accuracy of TMS for the determination of phenylalanine was ninhydrin chemical fluorescence method is better, has a good positive predictive value in neonatal HPA screening, screening is more suitable for HPA.