论文部分内容阅读
目的分析凤翔县2007年~2013年新生儿苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)的发病情况。方法 2007年~2013年共采集新生儿末梢血干血斑标本23 344例,按要求送市新筛中心,应用DELFIA法对血标本进行TSH、Phe检测分析,以了解CH及PKU发病情况。结果 7年筛查新生儿23 344例,确诊CH13例(男性8人,女性5人),发病率1∶1796,PKU7例(男性4人,女性3人),发病率1∶3335。结论通过新生儿筛查表明,凤翔县CH、PKU发病率均高于全国水平,为制定卫生保健规划提供了本底资料,并提示保健部门应对患儿加强健康教育和落实干预措施,防止残疾儿发生,以提高我县人口素质。
Objective To analyze the incidence of neonatal phenylketonuria (PKU) and congenital hypothyroidism (CH) in Fengxiang from 2007 to 2013. Methods A total of 23 344 newborn blood spot samples were collected from 2007 to 2013 and sent to the new screening center according to the requirements. The blood samples were analyzed by the DELFIA method for the detection of CH and PKU. Results A total of 23 344 newborns were screened in 7 years. 13 cases were diagnosed as CH (8 males and 5 females) with a prevalence of 1:1796 and PKU7 (4 males and 3 females) with a prevalence of 1:3335. Conclusion Neonatal screening shows that the prevalence of CH and PKU in Fengxiang County is higher than the national average, which provides the background information for the development of health care planning and prompts the health department to strengthen children’s health education and implement intervention measures to prevent disabled children Occurred to improve the quality of our population.