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目的总结和分析2010年1月~2014年12月钦州市新生儿疾病筛查中心筛查的状况,了解本地区先天性甲状腺功能减低症(CH)和苯丙酮尿症(pku)的筛查及发病和治疗情况,探讨钦州市新生儿疾病筛查工作中存在的问题及解决方法。方法采用时间分辨荧光免疫法检测滤纸干血斑中促甲状腺素(TSH)水平,采用荧光法测定滤纸干血斑中苯丙氨酸(Phe)水平。分析PKU及CH筛查情况、发病率及召回治疗随访情况。结果 2010~2014年共分娩活产儿376920名,筛查新生儿316 933例,筛查覆盖率84.08%,筛查率从2010年的54.26%提高到2014年的98.55%,5年间初筛阳性可疑PKU 201例,召回复查165例,经筛查共确诊PKU2例,发病率1∶158 467;初筛阳性可疑CH 1773例;召回复查1423例,确诊CH 146例、高TSH血症82例,发病率1:2171。PKU召回复查率由65%上升至90%;CH由72%上升至82%。结论通过新生儿疾病筛查可以早期发现CH、PKU患儿,加强管理和宣传力度,提高医务人员及广大人民群众对新生儿疾病筛查的认识,能有效提高筛查率和可疑阳性患儿召回率,及时发现和诊治新生儿智力低下,保障儿童正常的体格和智能发育,提高我国的人口综合素质,具有很好的社会效益和经济效益。
Objective To summarize and analyze the screening status of Qinzhou Neonatal Disease Screening Center from January 2010 to December 2014 and to find out the screening of congenital hypothyroidism (CH) and phenylketonuria (pku) in this area. Pathogenesis and treatment of neonatal disease screening in Qinzhou City, the existing problems and solutions. Methods Thyroxine (TSH) levels were detected by time-resolved fluorescence immunoassay in dried blood spots of filter paper. The level of phenylalanine (Phe) in dried blood spots of filter paper was measured by fluorescence method. Analysis of PKU and CH screening, incidence and follow-up of treatment recall. Results A total of 376,920 live births were observed during 2010-2014. A total of 316 933 newborns were screened, the screening coverage was 84.08%, the screening rate increased from 54.26% in 2010 to 98.55% in 2014, and the preliminary screening was suspicious in 5 years PKU 201 cases, recall and review of 165 cases, the screening confirmed a total of PKU2 cases, the incidence of 1: 158677; screening positive suspicious CH 1773 cases; recalled 1423 cases, diagnosed CH 146 cases, 82 cases of hyperhreraemia, onset Rate 1: 2171. PKU recall review rate from 65% to 90%; CH increased from 72% to 82%. Conclusion Neonatal disease screening can detect CH and PKU children early and strengthen management and publicity so as to raise the awareness of medical staffs and the general public on neonatal disease screening and effectively improve the screening rate and recall of suspicious positive children Rate, timely detection and treatment of mental retardation in newborns, to protect children’s normal physical and mental development, improve our overall population quality, with good social and economic benefits.