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目的对聊城市十县(市、区)2001.06-2013.12出生的新生儿进行疾病筛查研究分析,制定先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)患儿的干预措施,减少残疾儿的发生。方法新生儿出生72h后,足跟采血,用荧光免疫分析法检验血TSH phe切值浓度。结果活产儿887 490例,筛查798 519例,筛查率89.98%,确诊CH 318例,发病率0.40‰,确诊PKU 91例,发病率0.11‰。结论新生儿疾病的筛查人数呈现出逐年递增。通过新筛早发现早治疗先天性遗传性疾病引起的致残疾率,致死率较高的CH、PKU疾病,提供科学依据,进行正确的干预。减轻了社会负担和家庭困难,提高了人口素质,减少了婴幼儿残疾的发生。
Objective To investigate the disease screening of newborns born in the ten counties (cities and districts) of Liaocheng from June, 2001 to June, 2013 and to make interventions for children with congenital hypothyroidism (CH) and phenylketonuria (PKU) and reduce disability Children happen. Methods After the newborn was born 72h, the heel was collected for blood and the value of TSH phe cut-off value was tested by fluorescence immunoassay. Results 887 490 live births were detected, 798 519 cases were screened, the screening rate was 89.98%, 318 cases were diagnosed CH, the incidence was 0.40 ‰, and 91 cases were confirmed PKU, the incidence was 0.11 ‰. Conclusion The number of screening for neonatal diseases is increasing year by year. New screening early detection of congenital hereditary diseases caused by disability, mortality rates higher CH, PKU disease, to provide a scientific basis for the correct intervention. Reduce social burden and family difficulties, improve the quality of the population and reduce the incidence of infant and child disability.