2013～2017年清远市新生儿筛查情况分析

Analysis on newborn screening in Qingyuan City from 2013 to 2017

目的调查清远市2013～2017年新生儿遗传代谢疾病筛查结果。方法采用现场调查和回顾性调查的方法,对清远市2013年9月30日～2017年9月30日出生的300890例活婴常规新生儿代谢病三项[甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、葡萄糖6-磷酸脱氢酶(G-6-PD)缺乏症]的发病率等进行分析和统计。结果 2013～2017年间共筛查300890例新生儿,每年筛查人数占活产数比率在95%以上,确诊新生儿甲状腺功能减低症(CH)患儿275例,年发病率为0.064%～0.2%(1∶500～1∶1562)之间;确诊苯丙酮尿症(PKU)患儿10例,年发病率为0.003%～0.0035%(1∶28571～1∶33333)之间;葡萄糖6-磷酸脱氢酶(G-6-PD)缺乏症(蚕豆病)患儿22179例,年发病率为6.89%～7.94%(1∶125～1∶145)之间。结论清远市先天性甲状腺功能减低症(CH)高于全国发病率,并呈现逐渐递增的趋势,(G-6-PD)缺乏症发病率高于全国平均水平(P <0.05),属于全国高发地区。因此早期进行新生儿筛查有重要的意义,应积极进行新生儿筛查,加强宣教和告知。

Objective To investigate results of screening for neonatal genetic metabolic diseases from 2013 to 2017 in Qingyuan City.Methods By field investigation and retrospective investigation,incidence of neonatal metabolic diseases(congenital hypothyroidism(CH),phenylketonuria(PKU),glucose-6-phosphate dehydrogenase deficiency(G-6-PD))of 300,890 live births born on September 30,2013 to September 30,2017 in Qingyuan City was statistically analyzed.Results A total of 300,890 newborns were screened in the year from 2013 to 2017.The number of people screened each year accounts for more than 95%of the live births.275 newborns were diagnosed with congenital hypothyroidism(CH)and the annual incidence was 0.064%-0.2%(between 1∶500-1∶1562);10 newborns were diagnosed with phenylketonuria(PKU)and the annual incidence was 0.003-0.0035%(between 1∶28571-1∶33333);22,179 newborns were diagnosed with glucose-6-phosphate dehydrogenase deficiency(G-6-PD,favism)and the annual incidence was 6.89%-7.94%(between 1∶125-1∶145).Conclusion Incidence of congenital hypothyroidism(CH)in Qingyuan City is higher than the national average level and it shows the trend of gradual increase.Incidence of glucose-6-phosphate dehydrogenase deficiency(G-6-PD)in Qingyuan City is higher than the national average level(P<0.05).Qingyuan City belongs to the high incidence area of the country.Therefore,early screening for newborns is of great significance.It should actively carried out neonatal screening and strengthen education and notification.