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目的总结并分析北京市朝阳区新生儿疾病筛查情况,为今后北京地区新生儿疾病的预防和治疗提供参考依据。方法对北京市朝阳区2011-2016年新生儿疾病筛查情况进行回顾性分析。结果 6年来共筛查新生儿290 500例,筛查率稳定在98%以上。确诊为先天性甲状腺功能减低症(CH)的患儿129例,发病率为1∶2 252;确诊苯丙酮尿症(PKU)的患儿46例,发病率为1∶6 315;确诊高促甲状腺素(TSH)血症(HT)的患儿31例,发病率为1∶9 371。可疑患儿总复查率为95.16%。结论新生儿疾病筛查是出生缺陷三级预防的重要环节,通过筛查及时检出患儿并及时治疗,可避免或减轻体格、智力发育落后,提高人口素质,减轻家庭、社会的负担。
Objective To summarize and analyze the screening of neonatal diseases in Chaoyang District, Beijing, and provide reference for the prevention and treatment of neonatal diseases in Beijing. Methods A retrospective analysis of neonatal screening in Chaoyang District, Beijing during 2011-2016 was conducted. Results A total of 290 500 newborns were screened in 6 years, and the screening rate was stable at over 98%. A total of 129 children diagnosed with congenital hypothyroidism (CH) had an incidence of 1: 252.5; 46 children diagnosed with phenylketonuria (PKU) had a prevalence of 1: 6 315; 31 cases of thyroid hormone (HTH) children, the incidence was 1: 9371. Suspected children with a total review rate of 95.16%. Conclusion Neonatal screening is an important step in the tertiary prevention of birth defects. By timely screening and timely treatment of children, physical examination and mental retardation can be avoided or alleviated, the quality of the population can be improved, and the family and social burden can be lightened.