潍坊市10年80万新生儿先天性甲状腺功能低下症筛查分析

目的为了解潍坊地区新生儿先天性甲状腺功能低下症筛查发病率,治疗方法及干预效果和群体分布情况。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,根据切值筛查阳性患儿,最后确诊的病人接收治疗。结果 10年筛查人数799 241人次,确诊阳性病人先天性甲状腺功能低下症为340例,1例四氢生物碟呤缺乏症（BH4缺乏症）,发病率为1/2351。结论有效地反应出潍坊地区筛查发病率,并对新生儿CH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。

10 years in the city of Weifang in 800000 neonatal screening for congenital hypothyroidism

Objective：To understand the Weifang area of neonatal screening for congenital hypothyroidism incidence,treatment methods and effect of intervention and population distribution. Methods：Blood units at all levels according to technical specifications conform to the standard sample collection to screening center,TSH was measured by enzyme labeled TECAN congenital hypothyroidism screening,according to the cut off value of screening positive patients,the final diagnosis patients receive treatment. Results：10 years in the number of 799 241 passengers,the positive diagnosis in patients with congenital hypothyroidism in 340 cases,a four hydrogen bio disc BH4 deficiency（BH4 deficiency）,the incidence rate of 1/2351. Conclusion：Effectively reflect the Weifang area and the incidence of neonatal screening,CH early discovery,early diagnosis,early treatment and intervention,so that the children growth index,reach to the same level of intelligence.