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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 in Weifang screening, treatment and intervention effects and various areas of the specific performance of the screening indicators. Methods The blood sampling units at all levels were collected according to the technical specifications and sent to the screening center. The congenital hypothyroidism was detected by TECAN microplate reader and the PHE was detected by using the automatic flow cytometer. According to different cut-value screening of positive children, the final diagnosis of patients receiving treatment. Results In the past eight years, 658 679 blood samples were collected from neonatal screening in our city. A total of 237 cases of congenital hypothyroidism (CH) (primary) were detected in positive patients, with an average incidence of 1/2779 and phenylketonuria Symptoms (PKU) (classic) 67 cases, the average incidence of 1/9831, 1 case of tetrahydrobiopterin deficiency (BH4 deficiency). Conclusion Effectively reflect the screening of Weifang area incidence, and neonatal CH and PKU early detection, early diagnosis, early treatment and intervention, so that growth and development of children with indicators, reached the same age level of intelligence.