我国2015年新生儿遗传代谢病筛查指标切值的调查

Investigation on the cut-off values of screening markers for neonatal inherited metabolic diseases in China,2015

目的调查我国新生儿遗传代谢病筛查检验指标的切值情况，为新生儿遗传代谢病筛查工作提供建议。方法调取国家卫生计生委临床检验中心2015年全国新生儿遗传代谢病筛查指标苯丙氨酸（Phe）、促甲状腺激素（TSH）、葡萄糖-6-磷酸脱氢酶（G6PD）和17-羟孕酮（17-OHP）室间质量评价回报结果中切值相关信息，包括实验室编码、单位名称、所在地区、指标切值、切值来源、方法学原理、仪器、试剂和校准品。分析不同地区、方法学原理和切值来源对4个指标切值大小的影响。结果220家实验室中，切值来源中所占比例最高的3项依次为：试剂厂家说明书（48．2％-69．8％）、实验室自行确定（27．7％～35．2％）和新生儿疾病筛查技术规范（0．0％-20．0％）。参加研究的机构数量最多的3个省份分别为广东（25家）、山东（17家）和江苏（16家）。对切值情况调查显示：Phe切值分布在1．60～5．00mg／dL；TSH切值分布在4．82-18．00mlU／L；G6PD切值在2．00～10．00U／gHb；17-0HP切值在23．20～60．00nmol／L范围内。对于Phe指标，各来源组和方法组切值差异均有统计学意义（P均〈0．05）；对于TSH指标，各来源组间切值差异有统计学意义（P〈0．05），但方法组间差异无统计学意义（P〉0．05）；对于G6PD和17-OHP指标，不同来源和方法组的切值差异均无统计学意义（P均〉0．05）。结论各个检验指标切值较为一致，有个别实验室切值差异较大，建议各实验室对现有不同方法的切值进行评审。

Objective To investigate the cut-off values of screening markers for neonatal inherited metabolic diseases （IMD） in Chi- na, and then provide the suggestions for the screening of neonatal IMD. Methods The data related to the cut-off values of phenylala- nine （ Phe ）, thyroid stimulating hormone （ TSH ）, glucose-6-phosphate dehydrogenase （ G6PD ） and 17-hydroxyprogesterone （ 17- OHP） from the external quality assessment （EQA） program of neonatal IMD performed by National Center for Clinical Laboratories of China in 2015, including lab coding, institution name, location, cut-off value, source of cut-off value, methodological principle, in- strnment, reagent and calibrator, were collected. Then, the effects of different region, methodology and source of cut-off value on the cut-off value were analyzed. Results A total of 220 laboratories submitted their data. The main sources of cut-off values were from re- agent manufacturers＇ instructions （48.2% - 69.8% ）, calculated values by laboratories themselves （27.7% - 35.2% ）, and the technical specification for neonatal disease screening （0.0% - 20.0% ）. The province with the largest number of institutions attending the program was Guangdong （25）, followed by Shandong （17） and Jiangsu （16）, respectively. The ranges of the cut-off values were 1.60 - 5.00 mg/dL for Phe, 4.82 - 18.00 mIU/L for TSH, 2.00 - 10.00 U/glib for G6PD, and 23.20 - 60.00 nmol/L for 17- OHP, respectively. For Phe, there were significant differences in the cut-off values between different sources and between different meth- ods （P 〈0.05 ）, while for TSH, there was significant difference between different sources （ P 〈0.05 ） but nut between different methods （P 〉0.05）. However, for G6PD and 17-OHP, there was no any significant difference in the cut-off values between different sources or between different methods （P 〉 0.05）. Conclusion The distribution of the cut-off values for each marker is relatively unified except large variation existed in several laboratories, indicating that the cut-off values should be reviewed by neonatal screening laboratories.