恩施州新生儿先天性甲状腺功能减退症与苯丙酮尿症筛查情况分析

Neonatal congenital hypothyroidism and phenylketonuria screening in Enshi Prefecture

目的了解恩施州新生儿先天性甲状腺功能减退症(CH)及苯丙酮尿症(PKU)发病率及新生儿筛查情况。方法采用足跟血纸片法对恩施州2010年10月1日至2011年9月30日活产新生儿45 451例中的30 867例进行CH及PKU筛查。结果 CH发病率约为1∶1 715,未发现PKU病例。结论新生儿筛查有利于CH、PKU患儿的早诊断、早治疗,有助于避免新生儿发生体格和智能发育障碍,是提高人口素质的重要措施。

Objective To investigate the incidence and neonatal screening of congenital hypothyroidism（CH） and phenylketonu ria （PKU） in neonatus of Enshi Prefecture. Methods Heel blood paper method was performed for the screening of CH and PKU in 30 867 cases among total 45 451 live birth newborns in Enshi Prefecture from Oct. 1,2010 to Sep. 30,2011. Results The incidence of CH was about 1 - 1 715,and no case with PKU was diagnosed. Conclusion Newborn screening could be helpful for the early di- agnosis and therapy of CH and PKU cases,with obvious effectiveness for avoiding physical and intelligent developmental disorders, and might be an important measure to improve the quality of the population.