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目的分析宝鸡市新生儿疾病筛查中心2007年7月~2015年12月间新生儿筛查情况,探讨当地苯丙酮尿症(PKU)及先天性甲状腺功能减低症(CH)的发病情况。方法采用时间分辨免疫荧光法(DELFIA)检测滤纸干血斑中苯丙氨酸(Phe)和TSH浓度,回顾分析PKU及CH检测情况。结果 2007年7月~2015年12月共筛查新生儿281 672例,筛查率逐年上升,2010年已达92.19%。PKU发病率为1∶3275(86/281 672),BH4缺乏症为2.33%,CH发病率为1:2184(129/281 672)。PKU、CH发病率均高于邻近的宁夏、新疆及全国发病率。本资料对部分PKU患儿进行了突变基因分析,因检测例数少未发现新的突变,有待进一步加强该项工作,并对部分PKU患儿进行了血、尿MS/MS,GS/MS测定。结论通过新生儿筛查可做到早诊断、早治疗,避免因PKU、CH导致的智力低下,有利于提高我市出生人口质量。
Objective To analyze the neonatal screening of neonatal screening center in Baoji from July 2007 to December 2015 and investigate the incidence of local phenylketonuria (PKU) and congenital hypothyroidism (CH). Methods The concentrations of phenylalanine (Phe) and TSH in dried blood spots of filter paper were detected by time-resolved immunofluorescence assay (DELFIA). The detection of PKU and CH were analyzed retrospectively. Results A total of 281 672 newborns were screened from July 2007 to December 2015. The screening rate increased year by year and reached 92.19% in 2010. The incidence of PKU was 1:3275 (86/281 672), BH3 deficiency was 2.33%, and CH was 1: 2184 (129/281 672). The incidence of PKU and CH were higher than those in neighboring Ningxia, Xinjiang and the whole country. This information on some of the PKU children had a mutation in the gene analysis, because the number of detected cases found no new mutations, the need to further strengthen the work, and some of the PKU children with blood, urine MS / MS, GS / MS determination . Conclusion Neonatal screening can be done early diagnosis and early treatment, to avoid mental retardation caused by PKU, CH, is conducive to improving the quality of birth in our city.