2003-2012年全国新生儿遗传代谢病筛查室间质量评价结果分析

Results analysis of external quality assessment program in newborn screening laboratories during 2003-2012 in China

【目的】总结并分析2003-2012年全国新生儿筛查实验室检测苯丙氨酸(phenylalanine,Phe)和促甲状腺素(thyroid stimulating hormone,TSH)室间质量评价(external quality assessment,EQA)结果,为进一步提高我国Phe和TSH检测水平提供有价值的参考。【方法】参照美国疾病控制中心(CDC)新筛质量保证计划和中华人民共和国国家标准GB/T 20470-2006《临床实验室室间质量评价要求》。每年进行3次EQA,每次发放5个质控血片,要求各筛查实验室在规定时间内检测,回报Phe和TSH浓度水平结果及临床定性判断结果;组织者对所有回报的结果进行统计分析,作出实验室检测水平的评价。【结果】2003-2012年测定Phe荧光分析法所占比例为54.9%～85.2%、定量酶法和细菌抑制法分别为12.6%～6.2%和35.4%～4.6%;测定TSH时间分辨荧光分析法(Tr-FIA)所占比例为44.8%～70.7%、酶联免疫分析法(ELISA)和荧光酶免疫分析法(FEIA)分别为36.0%～11.2%,17.5%～13.0%。十年来Phe 150个批号实验室间平均变异系数分别为12.13%(定量酶法)、17.15%(细菌抑制法)、12.14%～12.97%(荧光法);TSH 150个批号实验室间平均变异系数:Tr-FIA为14.14%,ELISA为14.88%～27.20%,FEIA为17.07%～34.98%。2003-2012年间Phe和TSH浓度水平检测的平均合格率分别为95.3%和89.4%,临床定性判断平均合格率分别97.8%和98.0%。【结论】目前Tr-FIA成为我国筛查实验室测定TSH的首选方法,荧光分析法明显优于细菌抑制法。开展全国新生儿遗传代谢病Phe和TSH室间质量评价工作,有助于筛查实验室发现检测中存在的问题,逐步提高国内新生儿遗传代谢病检测质量水平。

[Objective] To summarize and analyze the results of external quality assessment （EQA） of phenylalanine （Phe） and thyroid stimulating hormone （TSH） during 2003--2012 in China and then provide a benchmark for the neonatal screening testing. [Methods] Referring to Newborn Screening Quality Assurance Program of Centers for Disease Control And Prevention and GB/T 20470-2006：Requirements of external quality assessment for clinical laboratories. With 3 times one year, 5 controls were distributed to the participated laboratories each time. Then the laboratories were asked to measure and report the results back in a specified time. With appropriate statistical analysis, the performance of each laboratory was evaluated. [Results] During 2003--2012,the percent of each method used for Phe was from 54.9 % to 85.2 % for Fluo- rescence Analysis,from 12.6% to 6.2%/00 for Quantitative Enzymatic Method,and from 35.4% to 4.6% for Guthrie Test. The percent of each method used for TSH was from 44.8% to 70.7% for Time Resolved Fluoroimmunoassay（TRFIA）, from 36.0 % to 11.2 % for Enzyme-Linked Immunosorbent Assay（ELISA）, and from 17.5 % to 13.0 % for Fluorescent-En- zyme immunoassay（FEIA）. The inter-laboratory coefficient of variation（CV） during the 10 years were 12.13%, 17.15%, and 12.14%~12.97% for each method of Phe. And for TSH,the inter-laboratory CV were 14.14%//00,14.88%~27.20%, and 17.07% ~34.98% for each method,respectively. The average acceptable rates of Phe and TSH were 95.3% and 89.4% for quantitative testing,97.8% and 98.0% for qualitative clinical judgment. [Conclusion] The CV of Fluorescence Analy- sis and TRFIA are less than others, thus the TRFIA is the first choice for TSH testing in China. The external quality assessment of Phe and TSH for newborn screening is helpful to discover the problem in this area and promote the national quality level.