青岛地区2000年～2013年新生儿先天性甲状腺功能减低症和苯丙酮尿症筛查结果分析

Screening results analysis of congenital hypothyroidism and phenylketonuria in Qingdao from 2000 to 2013

目的分析青岛市2000-2013年新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)和苯酮尿症(phenylketonuria,PKU)发病率和筛查状况。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,回顾性方法对其进行分析。结果共筛查新生儿1 105 573例,检出先天性甲状腺功能减低症患儿511例,发病率为1/2164,高于全国水平(χ2=43.881,P<0.01)且男女发病率存在显著性差异(χ2=29.695,P<0.01)。检出苯丙酮尿症109例,发病率为1/10 142,与全国平均水平比较无统计学意义(χ2=0.800,P=0.371>0.05)。结论 CH和PKU在新生儿群体中有一定发病率,可以通过新生儿期筛查早期发现并干预。

Objective： To analyze the morbidity and screening conditions of Congenital hypothyroidism （congenital hypothyroidism, CH） and phenylketonuria （phenylketonuria, PKU） from 2000 to 2013. Methods： To analyze the concentration of TSH and PHE by a retrospective analysis which were tested using the Time-resolved fluorescence analysis and fluorescence analysis. Results： 1 105 573 newborns were screemed, in which 511 cases were detected with Congenital hypothyroidism, the incidence rate was 1/2164 which was higher than the national average （χ^2=43.881, P〈0.01 ） , and the disease incidence of women was significant differet from that of men （χ^2=29.695, P〈0.01 ） . 109 cases were detected with phenylketonuria, the incidence rate was 1/10 142 which had no statistical difference with the national level （χ^2=0.800, P=0.371〉0.05） . Conclusions： Some newborns were detected with CH ;and PKU who were early diagnosed through newborn screening.