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目的回顾性地分析2013年1月-2015年12月,3年的新生儿筛查结果,了解我院负责新生儿筛查片区中的PKU和CH检出率,以做到早诊断,早治疗。方法运用芬兰-Perkin Elmer公司提供的筛查试剂盒用荧光法对在我院负责新生儿筛查片区中标本进行PKU和CH实验检测。结果筛查新生儿70 254例,CH筛查阳性582例,确诊CH21例,检出率为1/3345;苯丙酮尿症(PKU)筛查阳性117例,15例被确诊为PKU,检出率为1/4684。结论新生儿疾病筛查是现代预防医学的一项重要内容,可以早期检出患儿,并早期治疗患儿,避免发生体格和智能发育障碍,对优生优育和提高我国人口素质具有深远意义。
Objective To retrospectively analyze the neonatal screening results from January 2013 to December 2015 for 3 years to find out the detection rate of PKU and CH in the newborn screening area in order to make early diagnosis and early treatment . Methods The PKU and CH tests were performed on the samples in the neonatal screening area in our hospital by fluorescence method using the screening kit provided by Finland-Perkin Elmer Company. Results A total of 70 254 neonates were screened, 582 were positive for CH screening, 21 were diagnosed as CH, with a detection rate of 1/3345. PKU positive screening was performed in 117 cases and 15 cases were diagnosed as PKU. The rate is 1/4684. Conclusion Neonatal disease screening is an important content of modern preventive medicine. It can detect children early and treat children early to avoid physical and mental retardation, which is of great significance to prenatal and postnatal care and improving the population quality in our country.