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目的:分析和总结2002/2008年河北省承德市新生儿疾病筛查情况。方法:采集新生儿出生72 h后足跟血3滴,滴渗在专用滤纸片上,2~8℃冰箱保存,集中送检后由市筛查中心对先天性甲状腺功能低下症(CH)、苯丙酮尿症(PKU)进行筛查。结果:共筛查新生儿67 992例,确诊CH患儿13例,发病率为1/5 230;PKU 5例,发病率为1/13598。18例患儿均得到早期治疗,智能发育均正常。结论:早期进行新生儿疾病筛查可使患儿得到早期诊疗,防止小儿发生智力低下。
Objective: To analyze and summarize the screening of neonatal diseases in Chengde City of Hebei Province in 2002/2008. Methods: The heel blood was collected three hours after the newborn was born 72 h. The drip was infiltrated on special filter paper and stored in the refrigerator at 2-8 ℃. After the centralized screening, the city screening center was used to evaluate the congenital hypothyroidism (CH), benzene Ketoneuria (PKU) screening. Results: A total of 67 992 newborns were screened and 13 children diagnosed with CH were diagnosed as having a disease incidence of 1/5 230. Five patients with PKU had an incidence of 1 / 13598.18 18 children were treated early and their intelligence was normal . Conclusion: Early neonatal screening can enable early diagnosis and treatment of children to prevent mental retardation in children.