新生儿遗传代谢病筛查数据实验室间比对和监测平台的应用  

Establishment and application of inter-laboratory comparison and monitoring platform for neonatal inherited metabolic diseases screening

作　　者：章晓燕[1,2] 张宏红[3] 陈文高 王薇[2] 王治国[1,2] 

机构地区：[1]北京协和医学院研究生院,北京100730 [2]北京医院国家老年医学中心,卫生部临床检验中心/北京市临床检验工程技术研究中心,北京100730 [3]贵州省疾病预防控制中心妇幼保健院检验科,贵阳550004 [4]毕节市妇幼保健院检验科,贵州毕节551700

出　　处：《临床检验杂志》2016年第12期944-946,共3页Chinese Journal of Clinical Laboratory Science

基　　金：北京市自然科学基金资助项目(7143182);北京医院课题资助(BJ-2015-025)

摘　　要：目的用新生儿遗传代谢病筛查数据比对和监测平台分析新生儿疾病筛查实验室数据,用实验室数据进行质量控制并实现筛查数据的实验室间比对。方法用开发的新生儿筛查数据比对和监测平台收集全国45家新生儿遗传代谢病筛查实验室2016年6月苯丙氨酸（Phe）和促甲状腺激素（TSH）每日检验结果的中位数并进行统计分析。结果大多数实验室使用Perkin Elmer检测系统。Phe筛查数据中位数分布在0.17~1.21 mg/d L,TSH筛查数据中位数分布在0.90~4.56μIU/m L。Phe中位数百分差值满足1/2TEa（允许总误差）要求的实验室比例在97.8%以上,TSH约有1/3的实验室可以满足1/2TEa要求。结论新生儿遗传代谢病筛查数据比对和监测平台是新生儿筛查质量管理的有益补充,能帮助实验室使用筛查数据进行质量控制,同时实现筛查数据的实验室间比对,为检验结果互认提供参考。Objective To analyze the data from neonatal screening laboratories with the inter-laboratory comparison and monitoring platform for neonatal inherited metabolic diseases screening,and then perform quality control and inter-laboratory comparison for the screening data. Methods Medians of phenylalanine（ Phe） and thyroid stimulating hormone（ TSH） from 45 neonatal screening laboratories nationwide in July 2016 were collected and analyzed by the established inter-laboratory comparison and monitoring platform for neonatal inherited metabolic diseases screening. Results The data from 45 neonatal screening laboratories were collected. The Perkin Elmer detection system was used by most laboratories. The distributions of medians for Phe and TSH were 0. 17-1. 21 mg / d L and0. 90-4. 56 μIU / m L,respectively. More than 97. 8% of laboratories met the quality requirement of 1 /2 TEa for the percentage difference of medians of Phe,while only one third of laboratories for that of TSH. The median quality control figures showed that the medians were all within the upper and lower limits for Phe,while four medians exceeded the control limits for TSH. Conclusion The inter-laboratory comparison and monitoring platform for neonatal inherited metabolic diseases screening is a beneficial supplement for the quality management of neonatal screening,which may help laboratories to perform quality control,achieve the inter-laboratory comparison and provide the reference for the mutual recognition of laboratory results.

关 键 词：新生儿疾病筛查 遗传代谢病 实验室间比对 中位数 质量管理 

分 类 号：R446.5[医药卫生—诊断学]