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目的分析陕西省新生儿疾病筛查中心筛查结果,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 2008—2012年陕西省新生儿疾病筛查中心对新生儿采用荧光分析法检测滤纸干血斑中苯丙氨酸(Phe)浓度;采用时间分辨免疫荧光分析法(Tr-FIA)检测滤纸干血斑中促甲状腺激素(TSH)的浓度。回顾分析PKU及CH检出情况、发病率及治疗随访情况。结果 2008—2012年共筛查新生儿213 392名,每年筛查的新生儿数分别为34 656、47 670、47 485、45 443、38 138名。初筛阳性可疑PKU 1003例,CH 2179例;召回复查,5年间PKU复查率由79.0%上升至96.1%;CH由91.5%上升至99.4%。经筛查共确诊PKU 29例,发病率1∶7358;确诊CH 80例,发病率1∶2667。结论通过新生儿疾病筛查可以做到早诊断、早治疗,避免因PKU、CH导致终生残疾,有利于提高出生人口质量。
Objective To analyze the screening results of neonatal screening centers in Shaanxi Province and explore the incidence of local phenylketonuria (PKU) and congenital hypothyroidism (CH). Methods From 2008 to 2012, Neonatal Screening Center of Shaanxi Province used neonatal to detect the concentration of phenylalanine (Phe) in dried blood spots of neonates by fluorescence analysis. The time-resolved immunofluorescence assay (Tr-FIA) Serum thyroid hormone (TSH) concentration. Retrospective analysis PKU and CH detection, morbidity and treatment follow-up. Results A total of 213 392 newborns were screened during 2008-2012. The number of newborns screened annually was 34 656, 47 670, 47 485, 45 443, and 38 138 respectively. 1004 cases of PKU were screened positive and 2179 cases of CH were screened. The recall rate of PKU increased from 79.0% to 96.1% in 5 years and from 91.5% to 99.4% in 5 years. The screening confirmed a total of 29 cases of PKU, the incidence of 1: 7358; diagnosed CH 80 cases, the incidence of 1:2667. Conclusion Neonatal screening can achieve early diagnosis and early treatment and avoid lifelong disability caused by PKU and CH, which is beneficial to improve the quality of birth population.