Abstract: Objective To know therapy situation and disease incidence of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) illness screening,and to provide decision-making basis for the administrative department of public health. Methods Data of neonatal illness screening in Xi'an was analyzed from 2008 to 2013.The heel blood was sampled 72 h after birth for detection of thyrotropin and phenylalanine by time resolution method and fluorescence detection method respectively.Two detections were higher laboratory cut value for screening positive,the positive cases were retrospectively statistical analysis. Results The neonatal screening rate was increased significantly year by year from 59.76% in 2008 to 90.17% in 2013.In total there were 390 754 newborns screened from 2008 to 2013,279 cases of CH were identified with a detectable rate of 1∶1 401;157 cases of PKU were identified with a detectable rate of 1∶2 489.In the past 6 years continuous treatment of CH and PKU children were respectively 15.41% and 59.87%. Conclusions The work of neonatal illness screening has achieved significant results.The current rate of neonatal screening have room to improve further.To develop neonatal illness screening work can effectively prevent birth defects and improve the population quality.

Key words: neonatal genetic metabolic diseases, congenital hypothyroidism, phenylketonuria, screening rate, disease rate

摘要： 目的 了解西安市新生儿先天性甲状腺功能低下症(congenital hypothyroidism,CH)和苯丙酮尿症(phenylketonuria,PKU)的筛查率、发病率,阳性患儿追踪随访情况,为卫生行政部门提供决策依据。方法 通过对西安市2008-2013年新生儿遗传代谢病筛查数据进行统计分析,对出生72 h新生儿充分哺乳,采集足跟末梢血,分别用时间分辨荧光免疫分析法和荧光分析法检测促甲状腺素和苯丙氨酸,两次检测高于实验室切值为筛查阳性。结果 新生儿遗传代谢病筛查率逐年上升,全市筛查率由2008年的59.76%上升到2013年的90.17%(χ²值为21 481.64,P<0.01)。历年城区较郊县筛查率高,经统计学处理,年度城区与郊县筛查率差异均有高度统计学意义(χ²值分别为 2 242.98、1 359.39、219.72、9.34、238.66、589.37,P<0.01)。6年间从筛查的390 754例新生儿中共检测出CH患儿279例,发病率为1∶1 401; PKU 患儿157例,PKU发病率为1∶2 489。6年间确诊CH儿童随访治疗仅有15.41%;PKU儿童随访治疗占59.87%。结论 西安市新生儿疾病筛查工作仍有提升空间,应争取政策支持,进一步提高新生儿疾病筛查率和治疗率。

关键词: 新生儿遗传代谢病, 先天性甲状腺功能低下症, 苯丙酮尿症, 筛查率, 发病率