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目的分析北京市1989—2009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72h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,分别采用细菌抑制法(1989—2003年)和荧光法(2004—2009年);CH筛查检测指标为血促甲状腺激素(TSH)水平,分别采用放免法(1989—2003年)及时间分辨荧光免疫分析法(DELFIA)(2003—2009年)。结果 1989—2009年,北京市共筛查新生儿1745998名,筛查率由1989年的14.01%提高到2009年98.16%,可疑患儿复诊率由1991年的65.85%提高到2009年的92.18%,共确诊CH482例,发病率1:3622;PKU192例,发病率1:9094。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 1989 to 2009 in Beijing, and to provide basis for further improving the management of neonatal disease screening and intervention measures. Methods 72h after birth, normal nursing newborn heel blood on a specific filter paper, CH and PKU screening. PKU screening test for the determination of the concentration of blood phenylalanine (Phe), respectively, by bacterial inhibition (1989-2003) and fluorescence (2004-2009); CH screening test indicators for thyroid stimulating hormone (TSH) (1989-2003) and time-resolved fluorescence immunoassay (DELFIA) (2003-2009), respectively. Results From 1989 to 2009, 1745998 newborns were screened in Beijing. The screening rate increased from 14.01% in 1989 to 98.16% in 2009. The referral rate of suspicious children increased from 65.85% in 1991 to 92.18% in 2009, , A total of CH482 cases diagnosed, the incidence of 1: 3622; PKU192 cases, the incidence of 1: 9094. Conclusion Neonatal disease screening is a systematic service project that includes management, screening, follow-up, diagnosis and treatment, evaluation, 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.