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目的分析、总结六安市1996-2010年新生儿疾病筛查工作状况,进一步提高筛查质量,有效降低残疾儿的发生。方法收集六安市五县三区1996年4月至2010年9月间开展筛查项目助产机构的有效血片,统一由筛查中心进行先天性甲状腺功能低下(CH)及苯丙酮尿症(PKU)的筛查。CH检测指标为血促甲状腺激素(TSH),采用国家推荐的时间分辨荧光免疫分析法,PKU检测指标为血苯丙氨酸(Phe),先后采用国家推荐细菌抑制法和荧光法分析。结果自1996至2010年9月底,全市共筛查新生儿292951例,筛查覆盖率达90%,筛查率由1996年的2.0%提高到2010年的63.5%,共确诊CH患者116例,检出率为0.396‰;PKU26例,检出率为0.089‰。结论 1996-2010年六安市新生儿疾病筛查覆盖率、筛查率和两病确诊数呈逐年上升趋势;2006年以后逐步建立健全了新生儿疾病筛查质量保证体系,实现了对新生儿疾病筛查的全面质量管理,保障了筛查工作的健康发展,有效降低了残疾儿的发生。
Objective To analyze and summarize the status of neonatal screening in Lu’an from 1996 to 2010, further improve the screening quality and reduce the incidence of disabled children effectively. Methods The effective blood films of midwives of screening programs were collected from April 1996 to September 2010 in five counties and three districts of Lu’an City. Uniform hypothyroidism (CH) and phenylketonuria (PKU) screening. CH indicator was blood thyroid stimulating hormone (TSH), using the national recommended time-resolved fluorescence immunoassay, PKU detection index for the blood phenylalanine (Phe), followed by the national recommended bacterial inhibition and fluorescence analysis. Results From 1996 to the end of September 2010, a total of 292,951 newborns were screened, the screening coverage rate reached 90%, the screening rate increased from 2.0% in 1996 to 63.5% in 2010, a total of 116 CH patients were diagnosed, The detection rate was 0.396 ‰; PKU26 cases, the detection rate was 0.089 ‰. Conclusion From 1996 to 2010, the screening coverage rate, screening rate and the number of confirmed cases of newborn diseases in Lu’an increased year by year. After 2006, the quality assurance system of neonatal screening was gradually established and improved, The comprehensive quality management of disease screening ensures the healthy development of screening work and effectively reduces the incidence of disabled children.