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目的回顾分析象山县10年新生儿疾病筛查情况,了解新生儿先天性甲状腺功能低下症(CH)和苯丙酮尿症(PKU)的筛查情况及发病率。方法采用时间分辨荧光免疫分析法(DELFIA)和化学荧光法,对2001年-2010年在全县出生的新生儿进行足跟采血,统一送宁波市新生儿疾病筛查中心进行CH和PKU的筛查。结果 10年来共筛查新生儿49905例,平均筛查率98.43%,确诊CH44例,患病率为1/1134,未检出PKU,所有患儿均得到及时的早期治疗。结论我县CH发病率明显高于全国平均水平;加强管理,努力提高新生儿疾病筛查率,提高可疑阳性病例召回率,提高人口素质,减少出生缺陷。
Objective To review the 10-year neonatal screening in Xiangshan County and investigate the screening and incidence of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU). Methods Time-resolved immunofluorescence assay (DELFIA) and chemiluminescence method were used to collect blood from heel of newborn born in the county from 2001 to 2010 and sent to Ningbo Neonatal Disease Screening Center for CH and PKU screening check. Results A total of 49,905 newborns were screened over the past 10 years. The average screening rate was 98.43%. A total of 44 cases were diagnosed as CH44, the prevalence was 1/1134. PKU was not detected and all children were treated with early treatment in time. Conclusion CH incidence in our county was significantly higher than the national average; strengthen management, strive to improve neonatal screening rate, raise the recall rate of suspicious positive cases, improve population quality and reduce birth defects.