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目的分析沈阳市2000~2013年新生儿先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)的筛查结果,为进一步提高新生儿疾病筛查的管理水平及干预措施提供依据。方法采集出生72 h后正常哺乳的新生儿足跟血于特定滤纸上,进行CH及PKU筛查。PKU筛查检测指标为血苯丙氨酸(Phe)浓度,采用荧光法;CH筛查检测指标为血促甲状腺激素(TSH)水平,采用荧光酶免疫法。结果 2000~2013年,沈阳市共筛查新生儿525 568名,筛查率由2000年的36.00%提高到2013年98.26%,共确诊CH患儿129例,发病率为1∶4 074;PKU患儿98例,发病率为1∶5 363。结论新生儿疾病筛查是包括管理、筛查、随访、诊治、评估、教育等多个环节的系统服务工程,各部门的协调配合是提高筛查管理质量的有效措施,完善的新生儿疾病筛查工作可有效降低残疾儿的发生。
Objective To analyze the screening results of congenital hypothyroidism (CH) and phenylketonuria (PKU) in newborns from 2000 to 2013 in Shenyang City, and to provide basis for further improving the management of neonatal disease screening and intervention measures. Methods The neonatal heel with normal lactation 72 h after birth was collected on special filter paper for CH and PKU screening. PKU screening test for the determination of the concentration of blood phenylalanine (Phe), using fluorescence; CH screening test indicators for thyroid stimulating hormone (TSH) levels, the use of fluorescence enzyme immunoassay. Results From 2000 to 2013, a total of 525 568 newborns were screened in Shenyang City. The screening rate increased from 36.00% in 2000 to 98.26% in 2013. A total of 129 CH children were diagnosed with a prevalence of 1: 4074. PKU 98 cases of children, the incidence was 1: 35363. Conclusion Neonatal disease screening is a systematic service project that includes management, screening, follow-up, diagnosis and treatment, assessment, education and other links. Coordination and coordination of various departments is an effective measure to improve the quality of screening management. Neoplasm screening Check work can effectively reduce the incidence of disabled children.