Abstract: Objective To understand functions of neonatal congenital hypothyroidism (CH),phenylketonuria (PKA),G6PD deficiency and hearing screening,and to find out their screen status. Method The analysis of neonatal disease screening results were deployed to accomplish statistical report of Yulin in 2013. Results 1)The number of CH screening was 110 650 cases,positive in 1 381 cases,the positive rate of screening was 1.25%,there were significant differences in districts (P<0.01);2)The number of PKU screening was 110 650 cases,the positive was in 387 cases,the positive rate of screening was 0.35%,there were significant differences in districts(P<0.01);3)The number of G6PD deficiency screening was 88 748 cases,positive was in 4 143 cases,the positive rate of screening was 4.67%,there were statistically significant differences in districts (P<0.01);4)The number of hearing screening was in 56 113 cases,positive was in 4 053 cases,the positive rate was 7.22%,and there were statistically significant differences in each district (P<0.01). Conclusion To carry out diseases screening of newborn comprehensively,can detect diseases of newborn,also provide valuable medical basis for early intervention of neonatal,this is an important way to improve quality of the population.

Key words: congenital hypothyroidism, newborns, phenylketonuria, G6PD, hearing, screening

摘要： 目的 了解玉林市新生儿先天性甲状腺功能低下症、苯丙酮尿症、G6PD缺乏症和听力筛查等四项筛查状况。方法 对2013年玉林市新生儿病筛查结果进行统计分析。结果 2013年玉林市先天性甲状腺功能减低下症筛查数110 650例,初筛阳性1 381例,筛查阳性率为1.25%,各县市区差异有统计学意义(P<0.01);苯丙酮尿症筛查110 650例,初筛阳性387例,阳性率为0.35%,各县市区差异有统计学意义(P<0.01);G6PD缺乏症筛查88 748例,初筛阳性4 143例,阳性率为4.67%,各县市区差异有统计学意义(P<0.01);听力筛查56 113例,初筛阳性4 053例,阳性率为7.22%,各县市区差异有统计学意义(P<0.01)。结论 全面开展新生儿疾病筛查可早发现新生儿疾病,为新生儿早期干预提供有价值的医学依据,是提高总体人口素质的重要措施。

关键词: 先天性甲状腺功能低下症, 新生儿, 苯丙酮尿症, G6PD, 听力, 筛查