【摘要】 目的分析我国西北五省区新生儿苯丙酮尿症(PKU)和先天性甲状腺功能低下症(CH)的筛查结果,为进一步提高该地区新生儿疾病筛查管理水平及干预措施提供依据。方法新生儿出生72 h并充分哺乳后采集足跟内侧或外侧血滴于滤纸片,PKU采用荧光法检测苯丙氨酸含量,CH采用时间分辨荧光免疫方法检测促甲状腺激素水平。结果西北五省区共筛查新生儿470 078例,PKU平均发病率为1:3761,明显高于华北和东北地区,也高于全国的平均水平,其中以甘肃发病率最高,陕西次之,宁夏和青海居中较为接近,新疆发病率最低。而CH在西北、华北和东北地区的平均发病率在1:3583~1:3220之间,十分接近没有明显的差异,其平均水平为1:3363,低于全国平均值。结论新生儿疾病筛查在我国西北五省以及整个北方地区具有区域特点和地区差异。更多还原

【Abstract】 Objective:To analyze the results of neonatal screening for phenylketonuria(PKU)and congenital hypothyroidism(CH)in five northwestern provinces with a view to provide a basis for the further improvement of the quality of the neonatal screening management and the intervention measures. Methods:Blood samples were dropped on filter paper after they were taken from the heels of the 3-day old neonates who were adequately breast-fed,phenylalanine were detected by fluorescence method to screen for PKU,CH was screened by TSH measurement by time-resolved fluorescence immunoassay. Results:There are 470 078 neonates who were screened in the five northwestern provinces.Compared with the north and northeast regions,and also the national average in China,the prevalence of PKU in northwestern regions is 1 :3761,which is significantly higher,with the highest incidence of Gansu,Shaanxi,followed by Ningxia and Qinghai which are relatively close,and Xinjiang had the lowest incidence.While the prevalence of CH is included among 1 :3583~1 :3220 in northwest,north and northeast regions,with no significant difference.The average incidence is 1 :3363,lower than the national average. Conclusion:There exist regional characteristics and geographic variations in the result of neonatal screening in the five northwestern provinces and the entire northern region.更多还原