江苏省响水县2002-2008年新生儿遗传代谢性疾病筛查情况调查分析

Newborn screening for inherited metabolic diseases in Xiangshui County,Jiangsu Province,2002-2008

目的分析和总结2002-2008年响水县新生儿遗传代谢性疾病筛查情况。方法响水县接产单位住院分娩的新生儿在出生后72 h并充分哺乳后,采集新生儿足跟部血液,滴渗在特定的滤纸上,集中送检后由盐城市新生儿疾病筛查中心对先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)两种新生儿遗传代谢性疾病进行检测。结果2002-2008年,共筛查新生儿25860例,确诊CH患儿17例,发病率为0.66‰,PKU患儿3例,发病率为0.12‰。结论响水县新生儿遗传代谢性疾病筛查工作水平不断提高。提示加强新生儿疾病筛查知识的宣传、培训,加强新生儿疾病筛查工作的质量管理、督导,做好筛查儿童随访工作是提高新生儿疾病筛查工作水平的有效措施。

Objective To analyze the newborn screening status for inherited metabolic diseases.Methods Neonates delivered in hospitals of Xiangshui County were enrolled in this study.After adequate breastfeeding at 72 h after delivery,blood samples taking from the heels of newborn infants were collected and detected for congenital hypothyroidism(CH)and phenylketonuria(PKU).Results A total of 25 860 neonates were screened during 2002 and 2008,among which 17 were diagnosed with CH,and 3 PKU.The prevalences of CH and PKU were 0.66‰ and 0.12‰,respectively.Conclusion Newborn screening for inherited metabolic disease has been improved in Xiangshui County,indicating that strengthening of propaganda as well as quality inspection of newborn disease screening are effective.