新生儿疾病筛查临界值选取与筛查效率

目的:探讨武汉市新生儿疾病筛查临界值选取方法和运用此临界值的筛查效果,总结经验、提高筛查效率,降低漏诊率。方法:新生儿出生后72 h,采足跟末稍血制成滤纸干血片,用FEIA法检测血片中TSH和Phe含量,根据季节和标本采集时间选择不同临界值,并将初筛阳性新生儿召回确诊。结果;5年来,共筛查新生儿137826例,使用新临界值后,CH和PKU初筛阳性率由7.14‰和1.27‰增加到9.98‰和1.99‰,同时,CH和PKU发病率分别由0.49‰和0.60万/提高到0.78‰和1.05万/。结论:新生儿疾病筛查实验室应根据自身实际情况,制定适合本地区临界值,最大限度地减少漏诊,同时,避免过高假阳性给社会带来的负担,实验室要加强全面质量控制,推动新生儿疾病筛查工作向深层次发展。

Explore for cut- off point choosing and efficiency on newborn disease screening

Objective:To explore the method of choosing cut-off point and its effect on neonate disease screening practice in Wuhan,to improve screening efficiency and lower leak of positive case maximumly.Methods:A drop of plantar blood from newborns 72 hours after delivery was obtained onto a filter paper and dried to test blood levels of TSH and Phc by FEIA method.The different cut-off points were choosed based on the season and time when the specimen being taken,and the positive cases were recalled for further comfiring.Results:The CH screen positive rate rised from 7.14‰ to 9.98‰ while PKU from 1.27‰ to 1.99‰ for 5 years,total 137 826 cases were screened by the new cut-off point,the morbidity of CH and PKU changed from 0.49‰ and 0.60/104 to 0.78%o and 1.05/104 respectively.Conclusion:The cut-off point should be made by a laboratory based on its chracteristics so as to reduce maximumly the leaking.At the same time,the laboratory must strengthen the total Quality Control for avoiding high false positive for which may bring excess society burden,only thus the neonate disease screen should be done to the deeper development level.