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目的调查和分析平凉市新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查情况,尽早进行干预治疗。方法本组以2010年2月至2013年10月出生的68 520例采集合格血片的新生儿作为筛查对象,采用干血滤纸片法对出生72 h的新生儿采集足跟血,采用时间分辨免疫荧光法检测血苯丙氨酸浓度和促甲状腺激素浓度,记录新生儿的发病情况。结果本组68 520例新生儿中,14例新生儿确诊为CH,发病率为0.204‰;27例新生儿确诊为PKU,发病率为0.394‰。结论对新生儿进行CH和PKU筛查,有利于早期诊断,早期干预治疗,避免患儿痴呆症的发生,提高患儿的生活质量。
Objective To investigate and analyze the screening of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in Pingliang City, and to make intervention as soon as possible. Methods The group from February 2010 to October 2013 was born in 68 520 newborn blood samples collected as a screening target, the use of dry-blood filter paper on the newborn born 72 h heel blood collection, the use of time Discrimination immunofluorescence test for serum phenylalanine concentration and thyroid stimulating hormone concentration, record the incidence of newborns. Results Among the 68 520 newborns, 14 newborns were diagnosed as CH with a prevalence of 0.204 ‰. 27 newborns were diagnosed with PKU and the incidence was 0.394 ‰. Conclusion The screening of CH and PKU in neonates is beneficial to early diagnosis and early intervention to prevent the occurrence of dementia in children and improve the quality of life in children.