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目的:分析建湖县2002～2011年新生儿疾病筛查和发病情况,为今后实施一级预防提供依据。方法:建湖县20个接产单位住院分娩的活产新生儿在出生72 h并充分哺乳后采集足跟血制成滤纸干血片,分别应用时间分辨荧光法和荧光法分析检测血片中促甲状腺素(TSH)和苯丙氨酸(Phe)含量。TSH值>8 mIU/L或Phe值>1.8 mg/dl的新生儿视为可疑阳性,召回复查并进一步确诊。结果:10年筛查活产新生儿55 417例,平均筛查率83.40%;可疑阳性患儿586例,召回率99.49%;确诊先天性甲状腺功能减低症(CH)患儿41例,发病率为0.74‰;苯丙酮尿症(PKU)患儿7例,发病率为0.13‰。建湖县CH、PKU发病率均高于发达国家和全国平均水平。结论:领导高度重视、开展宣传培训、加强质量管理、重视规范治疗是新生儿疾病筛查成功的关键。
Objective: To analyze the screening and incidence of neonatal diseases from 2002 to 2011 in Jianhu County, and to provide evidence for the implementation of primary prevention in the future. Methods: Twenty live births and newborn infants delivered from 20 delivery units in Jianhu County were collected at 72 h after birth and were fully breast-fed. Dry blood films were obtained from filter paper of heel blood. Time-resolved fluorescence and fluorescence assays Thyrotropin (TSH) and phenylalanine (Phe) content. Newborns with a TSH value> 8 mIU / L or Phe value> 1.8 mg / dl are considered suspicious and recalled for further review. Results: A total of 55 417 live births were screened in 10 years, with an average screening rate of 83.40%; 586 suspicious positive children, with a recall rate of 99.49%; 41 children diagnosed with congenital hypothyroidism (CH) 0.74 ‰; 7 cases of phenylketonuria (PKU) in children, the incidence was 0.13 ‰. The incidence of CH and PKU in Jianhu County was higher than that of developed countries and the national average. Conclusion: Leaders attach great importance to publicity and training, to strengthen quality management, attention to standardized treatment is the key to successful neonatal screening.