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目的:了解徐州市新生儿疾病筛查的情况。方法:选取2003年1月～2010年3月徐州市697873例接受先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)筛查的新生儿,于出生72 h后采足跟血制成滤纸干血片,应用时间分辨免疫荧光法检测血片中促甲状腺激素(TSH)和苯丙氨酸(Phe)含量,TSH值≥9 mIU/L或Phe值≥2.0 mg/dl的新生儿视为可疑阳性,召回复查并进一步确诊。结果:所选新生儿中共确诊CH患儿334例,发病率为0.48‰,PKU患儿70例,发病率为0.10‰。徐州市CH发病率高于全国平均水平,PKU发病率和全国平均水平相近。结论:加大宣传力度、加强新筛管理、提高血片质量是保证新生儿疾病筛查成功的关键。新生儿疾病筛查是利国利民的卫生事业,需要国家及群众的大力支持。
Objective: To understand the situation of neonatal screening in Xuzhou. Methods: A total of 697,873 newborns who underwent congenital hypothyroidism (CH) and phenylketonuria (PKU) screening from January 2003 to March 2010 in Xuzhou City were enrolled. Blood samples were collected 72 h after birth The dry film of filter paper was used to detect TSH and Phe in the blood serum by time-resolved immunofluorescence method. The newborns with TSH value ≥9 mIU / L or Phe value≥2.0 mg / dl As suspicious positive, recalled and further confirmed. Results: A total of 334 newborns diagnosed with CH were diagnosed as CH with a prevalence of 0.48 ‰ and 70 cases of PKU with a prevalence of 0.10 ‰. The incidence of CH in Xuzhou is higher than the national average, and the incidence of PKU is similar to the national average. Conclusion: To increase publicity, strengthen the management of new screen and improve blood chip quality are the keys to successful neonatal screening. Neonatal disease screening is a national health undertaking that needs the support of the state and the masses.