Abstract: Objective To summarize neonatal screening for congenital hypothyroidism(CH),phenylketonuria(PKU),in Laiwu in the past 13 years to present the morbidity of the two kinds of diseases. Methods A retrospective study was employed to study the screening results of CH and PKU. For PKU to detect serum phenylalanine concentrationby fluorometric methods and for CH to detect serum thyroid stimulating homone levels by time-resolved fulorometry. Results A total of 133 866 cases (form May,1999 to Ocotober 2012 ) were screened,with the rate of screening 86.74%.The incidences of deficiency of PKU were 1/1 02 97 and that of CH 1/1,673,with 13 cases and 80 cases respectively. Conclusion The prevalence of CH and PKU can be reduced by neonatal screening and early-goal directed therapying.

Key words: congenitalhypothyroidism, phenylketonuria, neonate diseasescreening

摘要： 目的 总结莱芜市1999-2012年新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)、苯丙酮尿症(phenylketonuria,PKU)疾病筛查情况及发病率。方法 采用回顾性分析方法,应用荧光分析和时间分辨荧光分析法分别测定TSH浓度和PHE浓度。结果 1999年5月-2012年10月共筛查新生儿133 866例,筛查率86.74%,筛出CH患儿80例,发病率为1/1 673,PKU患儿13例,发病率为1/10 297。 结论 CH、PKU可以通过新生儿期筛查早期发现、早期治疗,避免智力低下,提高人口素质。

关键词: 新生儿疾病筛查, 先天性甲状腺功能低下症, 苯丙酮尿症