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目的建立河南省新生儿苯丙酮尿症(PKU)筛查的最佳苯丙氨酸(Phe)浓度阳性切值,以避免漏诊苯丙酮尿症患儿,同时可以降低假阳性率,减少人力和物力资源的浪费。方法采用荧光分析法检测新生儿血Phe浓度,应用软件SPSS19.0中的ROC曲线对初筛阳性的3 992例新生儿检测结果进行分析并确立最佳的Phe浓度阳性切值。结果不同的Phe浓度阳性切值具有不同的敏感度和特异度,其最佳Phe浓度阳性切值为2.05mg/dl,敏感度为100.00%,特异度为5.95%。ROC曲线下面积为0.734。结论应用ROC曲线确立我省新生儿PKU筛查的最佳Phe浓度阳性切值为2.05mg/dl,该切值具有一定的诊断价值。
Objective To establish a positive cut-off value of phenylalanine (Phe) in neonatal screening for phenylketonuria in Henan Province so as to avoid missing the diagnosis of phenylketonuria in children and reduce the false positive rate and reduce the manpower and Material resources waste. Methods The neonatal blood Phe concentration was detected by fluorescence analysis. The ROC curve of software SPSS19.0 was used to analyze the positive results of 3 992 neonates and to establish the best cut-off value of Phe concentration. Results The positive cut-off values of different Phe concentrations had different sensitivities and specificities. The positive cut-off value of the best Phe concentration was 2.05 mg / dl, the sensitivity was 100.00% and the specificity was 5.95%. The area under the ROC curve was 0.734. Conclusion The positive cut-off value of Phe concentration in neonatal PKU screening in our province was 2.05mg / dl using ROC curve. The cut-off value has certain diagnostic value.