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

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