全国2009年新生儿遗传代谢病筛查项目切值分析

Analysis of cut-off values of neonatal inborn errors screening in China 2009

【目的】了解我国新生儿遗传代谢病筛查检验项目切值情况,为新生儿遗传代谢病筛查工作提供建议。【方法】问卷调查收集2009年参加卫生部临床检验中心新生儿筛查室间质量评价计划单位的结果,包括实验室编码、单位名称、所在地区、两个质量评价项目(苯丙氨酸和促甲状腺素)的切值、所用方法、仪器、试剂和校准物。分析不同地区和方法学原理对两个项目切值大小的影响。【结果】发放问卷167家,包括了参加卫生部临床检验中心新生儿筛查室间质量评价计划的所有单位。收到159份问卷,其中有效问卷152份。回收率和有效率分别达到95.2%和95.6%。参加研究的机构数量最多的3个省份分别是广东(20家)、辽宁(14家)和山东(14家)。苯丙氨酸的切值分析有三种方法学原理:荧光分析法,占73.0%(111/152),最大和最小切值分别为4.0 mg/dL和1.7 mg/dL;细菌抑制法,占14.5%(22/152),最大和最小切值分别为4.0 mg/dL和1.9 mg/dL;定量酶法,占11.8%(18/152),最大和最小切值分别为2.8 mg/dL和2.0 mg/dL;其他方法1家,占0.7%(1/152)。促甲状腺素的切值分析有三种方法学原理:时间分辨荧光分析法,占63.2%(96/152),最大和最小切值分别为20.0μU/mL和4.9μU/mL;酶免疫荧光分析法,占14.5%(22/152)最大和最小切值分别为12.0μU/mL和8.5μU/mL;酶联免疫吸附法,占21.0%(32/152)最大和最小切值分别为15.0μU/mL和4.6μU/mL;其他方法2家,占1.3%(2/152)。对于苯丙氨酸的测量,定量酶法是切值差别最小的方法;对于促甲状腺素的测量,三种方法切值的平均值基本相同,酶免疫荧光分析法的切值差别最小。【结论】对于同一检测项目,不同方法内切值差异较大,而方法间差异较小,建议对现有不同方法的切值进行确认或验证。

【Objective】 To study cut-off values of neonatal inborn errors screening in China currently for giving sug-gestions to neonatal inborn errors screening work.【Methods】 Questionnaires were sent whose information included to the medical institutions that attended 2009 neonatal screening external quality assessment program of Chinese national center for clinical laboratories and analyzed the differences of cut-off values between different regions and principles of methods.【Results】 167 questionnaires were sent while received 159（95.2%,159 /167） but 152（95.6%,152 /159） available.The largest numbers of attended institutions of three provinces were Guangdong（20）,Liaoning（14） and Shandong（14） respec-tively.There were mainly three kinds of basic principles of phenylalanine measuring methods： fluorescence analysis（73.0%,111 /152）,maximum and minimum cut-off values were 4.0 mg /dL and 1.7 mg /dL respectively;bacterial inhibi-tion assay（14.5%,22 /152）,maximum and minimum cut-off values were 4.0 mg /dL and 1.9 mg /dL respectively;quanti-tative enzymatic assay（11.8%,18 /152）,maximum and minimum cut-off values were 2.8 mg /dL and 2.0 mg /dL respec-tively;other methods（0.7%,1 /152）.The number of main measuring methods of thyroid stimulating hormone was also three： time-resolved fluorescence immunoassay（63.2%,96 /152）,maximum and minimum cut-off values were 20.0μU /mL and 4.9μU /mL respectively;fluorescence enzyme immunoassay（14.5%,22 /152）,maximum and minimum cut-off values were 12.0μU /mL and 8.5μU /mL respectively;enzyme linked immunosorbent assay（21.0%,32 /152）,maximum and minimum cut-off values were 15.0μIU /ml and 4.6μU /mL respectively;other methods（1.3%,2 /152）.The differences of cut-off values of phenylalanine measuring method quantitative enzymatic assay was less than any other methods;for the measuring methods of thyroid stimulating hormone was fluorescence enzyme immunoassay.【Conclusions】 The differ-ences of cut-off values in same method is big but not between the different methods.It suggest that the current cut-off val-ues should be validated and verified.