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目的对比新生儿苯丙酮尿症筛查国产与进口试剂的应用性。方法采用国产广州丰华生物工程公司与进口芬兰Labsystems公司的茚三酮荧光法苯丙氨酸检测试剂盒对6011例新生儿标本进行平行检测。通过实验观察试剂盒的方法学特性,并使用串联质谱法对两试验的阳性标本进行确诊实验。结果 (1)经实验方法学鉴定,国产与进口试剂高低浓度批内变异系数分别为3.9%、4.7%及5.4%、6.3%;高低浓度批间变异系数分别为6.9%、5.8%和7.6%、8.3%;平均重现率分别为103.3%、99.8%,两种检测试剂相关性良好r=0.99,测定结果无明显差别P=0.738。(2)国产与进口试剂平行检测6011例新生儿筛查标本初查阳性分别为21、43例,初筛阳性率分别为3.49‰、7.04‰。新生儿苯丙氨酸含量99%分位值分别为1.31mg/dl、1.44mg/dl。结论两种检测试剂盒均能满足对新生儿苯丙酮尿症筛查。国产丰华试剂盒的精密度高、重现性良好、假阳性率低,有效缓解新生儿家庭的精神压力并降低筛查成本,更适合用于PKU筛查。
Objective To compare the applicability of domestic and imported reagents in neonatal phenylketonuria screening. Methods A total of 6011 newborn infants were tested in parallel with domestic ningbo Fenghua bioengineering company and ninhydrin fluorescence phenylalanine test kit imported from Finland Labsystems Company. The experimental method was used to observe the methodological characteristics of the kit, and the tandem mass spectrometry was used to confirm the positive samples of the two tests. Results (1) The experimental results showed that the coefficient of variation (CV) of the high and low concentrations of domestic and imported reagents were 3.9%, 4.7% and 5.4%, 6.3% respectively. The coefficient of variation between high and low concentrations were 6.9%, 5.8% and 7.6% , 8.3% respectively. The average recurrence rates were 103.3% and 99.8%, respectively. The correlation between the two detection reagents was good (r = 0.99). There was no significant difference between the two assays (P = 0.738). (2) The parallel detection of domestic and imported reagents 6011 cases of neonatal screening specimens were 21,43 cases were positive, the positive rates were 3.49 ‰ 7.04 ‰. Neonatal phenylalanine 99% quantiles were 1.31mg / dl, 1.44mg / dl. Conclusion Both test kits can meet the screening of neonatal phenylketonuria. Domestic Fenghua kit high precision, good reproducibility, low false positive rate, effectively relieve stress in newborns families and reduce screening costs, more suitable for screening PKU.