潍坊地区八年658679例新生儿疾病筛查分析

Weifang area eight years,658679 cases of neonatal disease screening analysis

目的为了解潍坊地区新生儿先天性遗传性代谢病筛查发病率,治疗方法及干预效果和各辖区筛查工作各项指标的具体执行情况。方法各级采血单位按技术规范要求采集符合标准血样送至筛查中心,先天性甲低筛查用TECAN酶标仪测定TSH,苯丙酮尿症使用全自动流式荧光分析仪检测PHE。根据不同的切值筛查阳性患儿,最后确诊的病人接收治疗。结果八年来我市的新生儿疾病筛查接收血样658 679份,共检出阳性病人先天性甲状腺功能低下症(CH)(原发性)237例,发病率平均为1/2779,苯丙酮尿症(PKU)(经典型)67例,发病率平均为1/9831,1例四氢生物碟呤缺乏症(BH4缺乏症)。结论有效地反应出潍坊地区筛查发病率,并对新生儿CH和PKU早发现,早诊断,早治疗及干预,从而使患儿生长发育指标,智能达到同龄水平。

Objective：To understand the incidence of neonatal congenital hereditary metabolic disease screening Weifang area,treatment methods and the intervention effect and the implementation of specific work and the screening the indicators. Methods：Blood units at all levels in accordance with the requirements of technical specification collection accord with a standard sample sent to the screening center,congenital armour low TSH was determined by standard instrument TECAN enzyme screening,benzene acetone urine automatic flow fluorescence analyzer were used to detect the PHE. According to different cutting value screening positive for children,and finally diagnosed patients receiving treatment. Results：Eight years the city of the screening examination of diseases of newborn babies receive blood samples from 658 679,were detected positive patients with congenital hypothyroidism（CH）（primary）237,average incidence was 1/2779,benzene acetone urine disease（PKU）（typical）of 67 cases,average incidence was 1/9831,a case of a four hydrogen biological disc poison deficiency（BH4deficiency）. Conclusion：the incidence of screening effectively reflects the weifang area,and the neonatal CH and PKU early detection,early diagnosis,early treatment and intervention,which makes children growth index,the intelligent peers.