【摘要】 目的 分析合肥市2008~2012年新生儿疾病筛查开展情况,了解新生儿苯丙酮尿症(PKU)、先天性甲状腺功能低下症(CH)发病情况。方法 回顾性分析合肥市新生儿疾病筛查中心PKU、CH的筛查、召回及确诊结果。结果 2008~2012年,合肥市新生儿筛查中心共筛查新生儿212651例,检出PKU和CH分别为20例和100例,PKU检出率为1/10632,CH检出率为1/2126。结论 合肥市PKU和CH检出率与相关文献报道相近,新生儿疾病筛查能够早期识别PKU和CH患儿。更多还原

【Abstract】 Objective To obtain prevalence of phenylketonuria(PKU) and congenital hypothyroidism(CH) in Hefei city,Anhui province.Methods Data of newborn screening in Hefei city during the period of 2008 to 2012 were retrospectively analyzed.Results From 2008 to 2012,a total of 212,651 newborns were screened,and 20 cases of PKU and 100 cases of CH were diagnosed,resulting in a rate of 1/10,632 for PKU and a rate of 1/2,126 for CH.Conclusion The rates of PKU and CH in Hefei were similar to the national rates according to literature.更多还原