中文摘要：

目的：了解泰州地区新生儿苯丙酮尿症（PKU）、先天性甲状腺功能减低症（CH）筛查及治疗状况。方法：对泰州地区2003～2011年参加新生儿筛查及治疗情况进行总结。结果：近8年共筛查250 095例新生儿,筛查率呈逐渐上升趋势;共筛查出PKU 15例,发病率0.06‰;CH67例,发病率0.27‰。结论：泰州地区PKU及CH发病率均低于全国平均水平,通过新生儿疾病筛查可以有效对PKU及CH进行早期诊治,减少残疾的发生。

英文摘要：

Objective： To explore the situation of the screening and treatment of phenylketonuria （PKU） and congenital hypothy- roidism （CH） . Methods： The screening for neonatal PKU and CH from 2003 to 2011 was conducted. Results： A total of 250 095 newborns were screened. The screening rate increased gradually year by year. 15 were diagnosed as PKU at a prevalence of 0. 06%~, and 67 were diag- nosed as CH at a prevalence of 0. 27%0. Conclusion： The incidenees of PKU and CH are slightly lower than the national average level. Neo- natal screening is vary effective for preventing mental retardation and developmental delay after CH and PKU.