目的 建立并应用新生儿遗传代谢病筛查新筛质量指标分析平台,分析全国16项新生儿筛查质量指标的现状。方法 按照解释性能力验证计划的方式,通过设计开发的新筛质量指标分析平台和Clinet-EQA平台系统,统一向224家新筛实验室发放电子调查表。要求参与的实验室统计2015年全年的数据并在线回报结果。采用开发的软件结合SPSS13.0进行统计分析,统计各质量指标的均值、中位数、第5百分位数(P₅)和第95百分位数(P₉₅)。结果 共151家实验室回报调查结果。新筛健康教育知晓率、筛查率、检验前血片周转时间及时率、检验报告发出时间及时率和室内质控开展率5项指标的中位数均在95%以上;而不合格血片百分比、重要信息遗漏血片百分比、室内质控变异系数(CV)不合格率和失访率4项指标中位数在1%以下。同一指标各实验室之间存在较大差异。不同疾病之间的质量指标结果也存在明显差异。大多实验室的检验前血片周转时间中位数为3~5 d,检验报告发出时间中位数多在3 d内。结论 新筛实验室在监测质量指标的同时应进行分析总结,并且积极持续地参加质量指标室间质量评价,加强信息化建设,实现更真实和有效的质量管理。

Objective To establish and apply an analysis platform for quality indicators of newborn genetic metabolic disease screening,and to analyze current status of 16 neonatal screening quality indicators in China. Methods According to ISO/IEC 17043:2012 mode 3,a network platform for survey on neonatal screening quality indicators was designed and developed.Electronic questionnaires were distributed to 224 newborn screening laboratories,who were asked to report their 2015 annual statistical data online.The aforementioned platform and SPSS 13.0 were utilized for statistical analysis wherein means,medians,the 5th and 95th percentiles (P₅ and P₉₅) of each quality indicators were calculated. Results A total of 151 screening laboratories submitted their results.The mediums of 5 quality indicators were above 95%,including awareness rates of neonatal screening health education,screening rates,timely turnaround rates of newborn screening samples,timely reporting rates of test results,and practice rates of internal quality control; Whereas the mediums of 4 quality indicators were below 1%,including the percentages of unacceptable dried blood spot samples,the percentages of samples that lacked important information,failure rates of CVs for internal quality control,and loss rates of follow-up cases.Individual quality indicators varied between laboratories,while the rates of quality indicators showed significant distinctions among different diseases.A majority of laboratories rendered a 3~5- day pre-examination turnaround time (TAT),and reporting TAT of test results were mostly within 3 days. Conclusions Newborn screening laboratories were obliged to analyze while monitoring the quality indicators,by participating external quality assessment programs and enhancing the construction of information system,so more reliable and effective quality management can be achieved.