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目的了解本地区新生儿先天性甲状腺功能低下症、苯丙酮尿症疾病发病率。方法采用酶标法和细菌抑制法对出生72h后的新生儿外周血滤纸标本,进行先天性甲状腺功能低下及苯丙酮尿症的筛查。结果36453例新生儿确诊甲状腺功能低下的32例,发病率为8.78/万,确诊苯丙酮尿症2例,发病率为0.55/万。结论新生儿疾病筛查使患儿得到早期诊治,是提高人口素质的重要措施。
Objective To understand the neonatal congenital hypothyroidism in the region, the incidence of phenylketonuria disease. Methods Peripheral blood filter paper samples of neonates after 72h were screened by enzyme-labeled method and bacterial inhibition method for congenital hypothyroidism and phenylketonuria screening. Results Thirty-two (36 453) neonates with hypothyroidism were diagnosed as hypothyroidism with a prevalence of 8.78 / million. Two cases of phenylketonuria were confirmed with a prevalence of 0.55 / million. Conclusion Neonatal screening for early diagnosis and treatment of children is an important measure to improve the quality of the population.