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目的:了解滨海县新生儿先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)的筛查结果。方法:测定活产新生儿足跟全血中的促甲状腺素、苯丙氨酸活性。结果:2005-2008年共筛查45 617份新生儿血样,筛查率为68.47%,检出CH患儿32例,检出率为0.70‰,PKU患儿5例,检出率为0.11‰。结论:通过新生儿疾病筛查,可有效地对CH和PKU进行早期诊断和早期防治,减少残疾儿的发生。
Objective: To understand the screening results of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in Binhai County. Methods: The activity of thyroxine and phenylalanine in the heel whole blood of live born newborns was measured. Results: A total of 45 617 neonatal blood samples were screened from 2005 to 2008 with a screening rate of 68.47%. 32 children with CH were detected with a detection rate of 0.70 ‰ and 5 PKU children with a detection rate of 0.11 ‰ . Conclusion: Neonatal screening can effectively diagnose and prevent CH and PKU early and reduce the incidence of disabled children.