泰州地区新生儿苯丙酮尿症和甲状腺功能减低症筛查分析  

Analysis of screening on neonatal phenylketonuria and congenital hypothyroidism in Taizhou area

作　　者：张银粉[1] 刘雨珠 夏莉[1] 顾艳[2] 朱晓梅[2] 乔越[2] 徐生生 陈国富[1] 王孝林[2] 

机构地区：[1]泰州职业技术学院,江苏泰州225300 [2]泰州市妇幼保健所

出　　处：《中国妇幼保健》2012年第29期4554-4556,共3页Maternal and Child Health Care of China

基　　金：泰州市科技发展计划(指导性)项目〔2011063〕;泰州职业技术学院科研项目〔TZY11-17〕

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。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.

关 键 词：新生儿筛查 苯丙酮尿症 先天性甲状腺功能减低症 

分 类 号：R174[医药卫生—妇幼卫生保健]