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目的了解宜昌市及周边地区新生儿先天性甲状腺功能低下(CH)及苯丙酮尿症(PKU)的发病率及新生儿疾病筛查的情况。方法对本院2004年-2007年度新生儿筛查资料进行回顾性分析。结果CH的发病率是1∶1546,PKU的发病率是1∶4632。结论新生儿筛查的数量和新生儿筛查的覆盖面是影响新生儿筛查发病率准确性的两个重要因素。新生儿筛查是早期发现CH,PKU患儿,使其得到早期诊治,避免发生体格和智能发育障碍的有效手段,是提高人口素质的重要措施。
Objective To investigate the incidence of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in Yichang City and surrounding areas and the screening of neonatal diseases. Methods Retrospective analysis of neonatal screening data from 2004 to 2007 in our hospital. Results The incidence of CH was 1:1546 and the incidence of PKU was 1:4632. Conclusion The number of neonatal screening and the coverage of neonatal screening are two important factors that influence the accuracy of neonatal screening. Neonatal screening is early detection of CH, PKU children, making it an early diagnosis and treatment, to avoid physical and mental retardation of the effective means to improve the quality of the population is an important measure.