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目的分析陇县新生儿苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)的发病情况。方法 2007~2013年宝鸡市新生儿筛查中心应用DELFIA法对新生儿滤纸干血斑进行Phe及TSH检测分析CH及PKU发病情况。结果 2007~2013年共筛查新生儿18 269人,2013年筛查率已达97.1%。经筛查共确诊CH5人,发病率为1:3654;PKU6人,发病率为1:3128。结论通过新生儿筛查工作,了解我县CH、PKU发病情况,为干预措施及减低残疾儿发生和提高出生人口素质有积极意义。
Objective To analyze the incidence of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Long County. Methods From 2007 to 2013, the incidence of CH and PKU in the newborn screening center of Baoji City was detected by Phe and TSH using DELFIA method. Results A total of 18 269 newborns were screened from 2007 to 2013, and the screening rate in 2013 reached 97.1%. The screening confirmed a total of CH5, the incidence was 1: 3654; PKU6 people, the incidence was 1: 3128. Conclusion Through neonatal screening, we can know the incidence of CH and PKU in our county, which is of positive significance for interventions, reducing the incidence of disabled children and improving the quality of birth population.