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目的了解先天性甲状腺功能低下症(congenital hypothyroidism,CH)和苯丙酮尿症(phenylketonuria,PKU)发病率,探讨干预措施,为实施一级预防提供依据。方法分析淄博市2001年1月—2010年12月新生儿疾病筛查结果,对所有活产新生儿按照卫生部《新生儿疾病筛查规范》采血,送淄博市妇幼保健院筛查中心统一检测。结果 10年筛查活产新生儿421 446人,确诊CH和PKU共182例。其中,CH 121例,发病率0.29‰;PKU 61例,发病率0.14‰。结论新生儿疾病筛查对减少出生缺陷和提高人口素质具有深远意义。
Objective To investigate the incidence of congenital hypothyroidism (CH) and phenylketonuria (PKU) and to explore the intervention measures to provide the basis for the implementation of primary prevention. Methods The screening results of neonatal diseases from January 2001 to December 2010 in Zibo City were collected. Blood was collected from all live births in accordance with the Newborn Diseases Screening Code of the Ministry of Health, and sent to Zibo Maternal and Child Health Hospital Screening Center for unified testing . Results A total of 421 446 live births were screened in 10 years. A total of 182 CH and PKU were confirmed. Among them, CH 121 cases, the incidence of 0.29 ‰; PKU 61 cases, the incidence of 0.14 ‰. Conclusion Neonatal disease screening has far-reaching significance in reducing birth defects and improving population quality.