CAJ | 학술논문

目的：探讨新生儿苯丙酮尿症及先天性甲状腺功能低下筛查的应用价值。方法选择2012年8月至2013年8月38286例新生儿，对其干血样进行新生儿疾病筛查。苯丙酮尿症筛查指标为血苯丙氨酸（phe），实验室方法用免疫荧光分析法。先天性甲状腺功能低下筛查指标为血促甲状腺素（TSH），实验室方法用时间分辨免疫荧光分析法。结果苯丙酮尿症筛查38286例，初筛阳性130例，阳性率3.395‰；确诊9例，确诊率69.230‰；发病率0.235‰。先天性甲状腺功能低下筛查38286例，初筛阳性60例，初筛阳性率1.567‰，确11例，初筛阳性确诊率183.333‰，发病率0.287‰。结论开展新生儿疾病筛查对降低出生缺陷，提高我国人口素质有重要意义。
목적：탐토신생인분병동뇨증급선천성갑상선공능저하사사적응용개치。방법선택2012년8월지2013년8월38286례신생인，대기간혈양진행신생인질병사사。분병동뇨증사사지표위혈분병안산（phe），실험실방법용면역형광분석법。선천성갑상선공능저하사사지표위혈촉갑상선소（TSH），실험실방법용시간분변면역형광분석법。결과분병동뇨증사사38286례，초사양성130례，양성솔3.395‰；학진9례，학진솔69.230‰；발병솔0.235‰。선천성갑상선공능저하사사38286례，초사양성60례，초사양성솔1.567‰，학11례，초사양성학진솔183.333‰，발병솔0.287‰。결론개전신생인질병사사대강저출생결함，제고아국인구소질유중요의의。
Objective To understand the prevalence of phenylketonuria (PKU ) and congenital hypothyroidism (CH) in the city's newborns and evaluate the value of the screening with the dried blood samples. Methods The indicators of phenylketonuria phenylalanine (phe) was tested in the blood by immunofluorescence analysis. The indicator of congenital hypothyroidism blood thyrotropin (TSH) was tested by time-resolved immunofluorescence assay. Results Among the 38,286 neonates, 130 had a positive phenyketourina screening test, the screening positive rate was 3.395‰and 9 were di-agnosed as phenylketouria. The screening positive diagnosis rate was 69.230‰ and the incidence was 0.235‰. Sixty neonates were positive for the congenital hypothyrodism, the screening positive rate was 1.567‰. Eleven were diagnosed as congenital hypothyroidiam, therefore, the diagnosis rate of positive screening was 18.3%, the incidence rate was 0.287‰. Conclusion Neonatal screening can reduce birth defects, so it is important in improving the quality of our population.