论文部分内容阅读
目的:掌握大庆地区新生儿疾病筛查(简称新筛)谱中两病[苯丙酮尿症(简称PKU)、先天性甲状腺功能减低症(简称CH)]的筛查状况。方法:新生儿出生72h后且喂足6次奶在足跟内或外侧缘采血,用特制的滤纸片采集两个直径8mm的血斑;实验方法:CH筛查是酶联免疫法;PKU筛查2003年前采用细菌抑制法,2003年后采用酶化学法,为全定量检测方法:生长发育评价采用WHO推荐的生长发育评价标准;在智力检测方面:采用0～6岁小儿神经心理发育测查(首都儿研所研制)。结果:1999年9月1日～2005年9月30日筛查新生儿49505人,筛查率为65.98%。确诊PKU5人,发病率为1/9901;确诊CH22人,发病率为1/2250。患儿发育商均在正常水平。结论:大庆市CH发病率高于全国水平,属CH高发区域,提示发病有地域分布差异,是否与生存环境有关。PKU发病略高于全国发病水平。大庆新筛管理系统完善,有效避免了CH、PKU患儿发生智力低下。
Objective: To investigate the screening status of two diseases (phenylketonuria (PKU) and congenital hypothyroidism (CH)) in the neonatal screening in Daqing area. Methods: Blood samples were taken from the inside or outside edge of the heel after 72 hours of birth and six times of feeding. Two blood spots with a diameter of 8 mm were collected with a special filter paper. Methods: CH screening was enzyme-linked immunosorbent assay Check before 2003 using bacterial inhibition method, enzymatic chemistry method after 2003, for the full quantitative detection method: growth and development evaluation using WHO recommended growth and development evaluation criteria; in intelligence testing: the use of 0 to 6-year-old children neuropsychological development test Check (Capital Research Institute developed). Results: 49,505 newborns were screened from September 1, 1999 to September 30, 2005 with a screening rate of 65.98%. Confirmed PKU5 people, the incidence was 1/9901; confirmed CH22, the incidence was 1/2250. Children’s development are at normal levels. Conclusion: The incidence of CH in Daqing City is higher than the national level, which belongs to the high incidence area of CH, suggesting that there is a geographical distribution of incidence and whether it is related to the living environment. The incidence of PKU slightly higher than the national incidence level. Daqing new screen management system improved, effectively avoiding CH, PKU children with mental retardation.