2013～2017年清远市新生儿筛查情况分析
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摘要
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
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
引文
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[2]张延玮,谢洁娜,郭书邑.广东省汕头市新生儿遗传代谢疾病筛查结果分析[J].临床输血与检验,2016,18(6):571-573.
[3]裘蕾,孔元原,杨海河.北京市新生儿疾病筛查公众知晓情况调查[J].中国妇幼保健,2016,31(8):1718-1720.
[4]杨金良.2014年象山县新生儿疾病筛查情况分析[J].中国妇幼保健,2016,31(2):291-292.
[5]项东顺,白晓芬,张利红,等.麻城市新生儿疾病筛查及可疑阳性召回分析[J].中国计划生育学杂志,2016,24(6):417-418.
[6]苏雅洁,蒋海丽,阿仙,等.南疆地区新生儿家属对新生儿疾病筛查认知情况调查[J].中国妇幼健康研究,2016,27(5):634-636.
[7]唐新红.2005-2014年金山区新生儿疾病筛查情况分析[J].中国妇幼保健,2016,31(17):3528-3531.
[8]石婧,牟鸿江,张莎莎,等.2008-2014年贵州省新生儿苯丙酮尿症筛查结果分析[J].中国妇幼保健,2016,31(19):3998-4000.
[9]王川,高倩,尚煜.2011-2016年北京市朝阳区新生儿疾病筛查结果分析[J].中国妇幼保健,2017,32(22):5653-5655.
[10]王荣贵,陈萍,金爱枝.2005-2015年荆州市新生儿疾病筛查结果分析[J].中国妇幼保健,2017,32(1):79-81.
[11]杜小云,李琴,唐凯,等.宝鸡市陈仓区2007~2014年新生儿TSH、Phe筛查结果分析[J].临床输血与检验,2016,18(5):481-483.
[12]罗超,范歆,林彩娟,等.广西地区单胎和双胎新生儿先天性肾上腺皮质功能增生症筛查确诊结果分析[J].中国儿童保健杂志,2016,24(2):183-184.
[13]尹峰.应用串联质谱技术进行新生儿遗传代谢病筛查44639例结果分析[J].中国妇幼保健,2016,31(15):3098-3101.
[14]章晓燕,王薇,赵海建,等.我国2015年新生儿遗传代谢病筛查指标切值的调查[J].临床检验杂志,2016,34(9):706-709.
[15]毛新梅,井淼,田海燕.宁夏地区160 046名新生儿先天性肾上腺皮质增生症筛查与治疗随访分析[J].中国当代儿科杂志,2016,18(8):698-701.
[16]柳玮,谢二辰,封纪珍,等.490464例新生儿先天性甲状腺功能低下症和苯丙酮尿症筛查结果分析[J].中国妇幼保健,2016,31(6):1205-1206.