3湛江市新生儿筛查总结报告(已1).docVIP

稿号:14615 湛江市新生儿筛查总结报告 蔡宗友，霍金平，胡定波 （广东省湛江中心人民医院 湛江市新生儿筛查中心，广东湛江 524037） 　　摘要： 目的 介绍湛江市新生儿筛查的情况及意义，评价该实验室的检测能力。方法 对7年来湛江市出生的113 000例新生儿进行筛查。TSH检测应用酶免疫荧光法；phe检测应用荧光法；G6PD检测应用荧光斑点法。结果 CH发病率1/3139，G6PD缺乏发病率4.65%，检出PKU患儿1例。三种疾病筛查的室间质量控制临床判断结果与反馈结果符合率100%。室内质量控制结果TSH C1变异系数26.4%，C2变异系数9.1%；Phe C1变异系数11.6%，C2变异系数8.6%；G6PD的室内质量控制结果与标准值符合率100%。结论 该新生儿筛查实验室的室间及室内质量控制结果达到了权威组织者的要求，表明其实验结果是准确可靠的。通过新生儿筛查能使CH、PKU及G6PD缺乏患儿得到早期诊断治疗，避免发生体格和智能发育障碍。 关键词： 新生儿筛查；先天性甲状腺功能低下；苯丙酮尿症；葡萄糖-6-磷酸脱氢酶缺乏症；质量控制 Summarizing　report on the reselts of Neonatal Screening of Zhanjiang CAI Zongyou，HUO Jinping，HU Dingbo. (The Central People’s Hospital of Zhanjiang，Neonatal Screening center of Zhanjiang，Guangdong 524037，China) Abstract：Objective：To introduce the circumstance and significance of Zhanjiang Neonatal Screening and evaluate the competence of the laboratory．Methods：To be sreened 13,000 babies of Zhanjiang in 7 years. The methods of thyrotropin(TSH) is fluorometric enzyme immunoassay；The methods of phenylalanine(Phe) is fluorometric assayThe methods of G6PD is Fluorescence spot test．Results：The incidence of CH is 1/3139. The incidence of G6PD deficiency is 4.65%．The case　of PKU is only one . The consistency of clinical results of EQA(External quality assessment) with the feedback results is 100% for the three diseases；For the results of IQC(Internal Quality Control)，the C1 CV(coefficient of variation) of TSH is 26.4%， the C2 CV is 9.1%；the C1 CV　of　Phe is 11.6%，the C2 CV is 8.6% ．The consistency of　G6PD IQC results with Standard value is 100%．Conclusion：The EQA　and IQC results of the laboratory achieved the demand of the authority organizers，and it shows that the results are accurate and dependable. The sufferer of CH and PKU and G6PD can be diagnosed and cured in the early stage for Neonatal Screening．And to avoid happening the growth　handicap in intelligence　and physique. Key words：Neonatal Screening；CH；PKU；G6PD ；Quality Control 新生儿筛查是一项提高人口健康素质的重要措施，近年来在政府和社会各界的大力支持下，逐步在我国推广。为保证新生儿筛查结果质量，