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目的分析贵州省2010—2015年新生儿遗传代谢病筛查数据,了解主要疾病发病率及特点。方法收集贵州省2010—2015年各地区新生儿遗传代谢病筛查的结果,描述活产新生儿筛查率、可疑阳性儿召回率、各新生儿遗传代谢病筛查中心年检测量,并对先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)的发病率进行统计学分析。结果贵州省6年间有1 811 085名新生儿参加CH和PKU筛查,筛查率70.03%,可疑阳性儿召回率77.52%,均低于国家平均水平。贵阳市筛查率超出100.00%,PKU召回率高于CH,各新生儿遗传代谢病筛查中心年检测量间存在较大差异。CH发病率0.327‰(593/1 811 085),PKU发病率0.030‰(54/1 811 085),均低于国家平均水平。CH总体呈负增长,PKU相对稳定。结论贵州省CH和PKU发病存在地域差异,但均不是高发地区。应进一步扩大新生儿遗传代谢病筛查普及范围,提高可疑阳性儿召回率。
Objective To analyze the screening data of genetic metabolic diseases among newborns in Guizhou Province from 2010 to 2015 so as to understand the prevalence and characteristics of major diseases. Methods The results of screening neonatal genetic metabolic diseases in Guizhou Province from 2010 to 2015 were collected. The screening rate of live birth neonates, the recall rate of suspicious positive children and the annual screening rate of neonatal genetic metabolic disease screening centers were described. The incidence of congenital hypothyroidism (CH) and phenylketonuria (PKU) was statistically analyzed. Results There were 1,811,085 newborns in Guizhou Province who participated in CH and PKU screening in 6 years. The screening rate was 70.03% and the recall rate of suspected positive children was 77.52%, both of which were lower than the national average. The screening rate in Guiyang City exceeded 100.00%, the recall rate of PKU was higher than that of CH, and there was a big difference between the annual screening tests of all neonatal genetic metabolic disease screening centers. The incidence of CH was 0.327 ‰ (593/1 811 085) and the incidence of PKU was 0.030 ‰ (54/1 811 085), both lower than the national average. CH overall negative growth, PKU relatively stable. Conclusion There are regional differences in the incidence of CH and PKU in Guizhou Province, but neither is a high incidence area. We should further expand the scope of genetic screening for neonatal genetic disease, increase the recall rate of suspicious positive children.