杭州市唐氏综合征发生率和流行病学特征分析
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摘要
目的了解2010年至2016年杭州市唐氏综合征胎儿的发生率和流行病学特征。方法回顾性分析杭州市2009年10月至2015年9月640 671例孕妇的出生缺陷监测及产前筛查随访结果资料。结果在随访到的617 158例孕妇中有确诊的DS胎儿325例,DS发生率5.27/万。2010年DS发生率为3.55/万,2016年DS发生率为6.35/万。非血清学筛查DS发生率(11.20/万)高于通过血清学筛查孕妇的发生率(4.12/万)(χ2=76.470,P<0.001)。男性发生率为3.92/万、女性为3.17/万。孕妇年龄<25岁组的DS发生率最低(1.66/万),≥40岁组最高(45.56/万),各组间DS发生率差异有统计学意义(χ2=256.127,P<0.001)。发生率较高的是上城区、滨江区和拱墅区,分别为:9.06/万、7.78/万和7.77/万;发生率较低的是临安市、江干区和建德市,分别为:3.10/万、3.74/万和3.77/万。主城区、郊区和辖县市的DS发生率分别为:6.18/万、4.38/万和4.55/万。结论杭州市孕产妇妊娠结局为DS胎儿的发生率为5.27/万,DS发生率与胎儿性别无关,产妇年龄越大,DS的发生率越高,主城区DS发生率高于郊区。
Objective:To analyze the prevalence and Epidemiological characteristics of Down′s syndrome(DS)in Hangzhou in 2010-2016. Methods:Surveillance data for birth defects of Hangzhou between October 1,2009 and September30,2015 were analyzed retrospectively. Results:There were 325 cases of DS among 617 158 pregnancies,and the DS incidence was 5.27 per 10 000 births. The incidence of DS increased from 3.55 per 10 000 births in 2010 to 6.35 per 10 000 births in 2016.The incidence of non serum screening of DS(11.20/10 000)was significantly higher than that of serum screening test(4.12/10000)(χ2=76.470,P<0.001). There was no significant difference of the DS incidence between male cases(3.92/10 000)and female cases(3.17/10 000)(χ2=2.399,P=0.121). Maternal age<25 years had the lowest DS(1.66/million)incidence,as ≥ 40 years had the highest one(45.56/million),and the difference was statistically significant(χ2=76.470,P<0.001).The incidence rate of DS is higher in Shangcheng District(9.06/10 000),Binjiang District(7.78/10 000)and Gongshu District(7.77/10 000). And the lower incidence is Ling'an District(3.10/10 000),Jianggan District(3.74/10 000)and Jiande City(3.77/10 000). The incidence rates of DS in main urban areas,suburban areas and counties were 6.18/10 000,4.38/10 000 and4.55/10 000,respectively. Conclusion:The incidence of DS,which is related to maternal age and residence but not fetal gender,in Hangzhou was 5.27 per 10 000 births. The older the maternal age is,the higher the incidence of DS will be. And the incidence of DS is higher in the urban area than that in the suburbs area.
Objective:To analyze the prevalence and Epidemiological characteristics of Down′s syndrome(DS)in Hangzhou in 2010-2016. Methods:Surveillance data for birth defects of Hangzhou between October 1,2009 and September30,2015 were analyzed retrospectively. Results:There were 325 cases of DS among 617 158 pregnancies,and the DS incidence was 5.27 per 10 000 births. The incidence of DS increased from 3.55 per 10 000 births in 2010 to 6.35 per 10 000 births in 2016.The incidence of non serum screening of DS(11.20/10 000)was significantly higher than that of serum screening test(4.12/10000)(χ2=76.470,P<0.001). There was no significant difference of the DS incidence between male cases(3.92/10 000)and female cases(3.17/10 000)(χ2=2.399,P=0.121). Maternal age<25 years had the lowest DS(1.66/million)incidence,as ≥ 40 years had the highest one(45.56/million),and the difference was statistically significant(χ2=76.470,P<0.001).The incidence rate of DS is higher in Shangcheng District(9.06/10 000),Binjiang District(7.78/10 000)and Gongshu District(7.77/10 000). And the lower incidence is Ling'an District(3.10/10 000),Jianggan District(3.74/10 000)and Jiande City(3.77/10 000). The incidence rates of DS in main urban areas,suburban areas and counties were 6.18/10 000,4.38/10 000 and4.55/10 000,respectively. Conclusion:The incidence of DS,which is related to maternal age and residence but not fetal gender,in Hangzhou was 5.27 per 10 000 births. The older the maternal age is,the higher the incidence of DS will be. And the incidence of DS is higher in the urban area than that in the suburbs area.
引文
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[11]Wu J,Morris J K.The population prevalence of Down′s syndrome in England and Wales in 2011[J].European Journal of Human Genetics Ejhg,2013,21(9):1016-9.
[12]Shin M,Besser L C,Kucik J E,et al.Prevalence of spina bifida among children and adolescents in 10 regions in the United States[J].Pediatrics,2010,126(2):274-279.
[13]徐宏燕,刘凯波,齐庆青.2010年-2014年北京地区唐氏综合征筛查情况分析[J].中国优生与遗传杂志,2016,24(2):48-49.
[14]王玉丰,等.三亚地区新生儿唐氏综合征流行病学调查及相关发病因素研究[J].重庆医学,2015,44(2):235-236+224.
[15]李建平,马健,李超.成都市锦江区2008年-2013年孕中期唐氏综合征妊娠流行病学队列分析[J].中国优生与遗传杂志,2015,23(3).41-42.
[16]刘焕玲,朱姝,胡云英,等.新生儿出生缺陷24120例监测数据评价孕中期血清学产前筛查质量[J].中国实用妇科与产科杂志,2016,32(5):437-440.
[17]李科生,等.1997~2007年中国围产儿中唐氏综合征监测资料的分析[J].现代预防医学,2009,36(13):2442-2444.
[18]毕丽华,丁伟,柳洁.大连地区唐氏综合征发生率的调查研究[J].中国优生与遗传杂志,2012,20(9):33-35.
[19]Deng C,et al.Recent trends in the birth prevalence of Down syndrome in China:impact of prenatal diagnosis and subsequent terminations[J].Prenatal Diagnosis,2015,35(4):311-318.
[20]Gekas J,Langlois S,Ravitsky V,et al.Non-invasive prenatal testing for fetal chromosome abnormalities:review of clinical and ethical issues[J].Application of Clinical Genetics,2016,9:15-26.
[21]吕时铭.高龄孕妇的产前诊断[J].中华检验医学杂志,2016,39(6):401-403.
[22]Mcnally R,Rankin J M,Rushton S,et al.Space-time analysis of Down syndrome:results consistent with transient pre-disposing contagious agent[J].International Journal of Epidemiology,2008,37(5):1169-1179.
[23]李荔荔,刘冰,杨柳,等.沈阳市人群唐氏综合征儿发生状况流行病学调查[J].中国妇幼保健,2011,26(3):417-418.
[24]De G G,Buckley F,Skotko B G.Live births,natural losses,and elective terminations with Down syndrome in Massachusetts.Genetics in Medicine Official[J].Journal of the American College of Medical Genetics,2016,18(5):459.
[2]肖文霞,陈燕杰.出生缺陷监测的研究进展[J].中国优生与遗传杂志,2016,24(4):9-11.
[3]陈益明,卢莎,张闻,等.杭州市18三体综合征发生率及相关因素分析[J].预防医学,2018,30(?):240-243?.
[4]卫生部医疗服务标准专业委员会.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与诊断技术标准第1部分:中孕期母血清学产前筛查[S].中国标准出版社,2010-10-01.
[5]卫生部医疗服务标准专业委员会.胎儿常见染色体异常与开放性神经管缺陷的产前筛查与诊断技术标准第2部分:胎儿染色体异常的细胞遗传学产前诊断技术标准[S].中国标准出版社,2010-10-01.
[6]张媛媛.超声软指标在胎儿先天畸形产前筛查中的应用价值[J].中国产前诊断杂志:电子版,2016,8(4):67-72.
[7]李胜利,邓学东.产前超声检查指南(2012).中华医学超声杂志(电子版),2012,9(07):574-580.
[8]Shaffer L,Mcgowan J,Schmid M,et al.ISCN 2013:an international system for human cytogenetic nomenclature[S].Switzerland:S Karger AG,2013.
[9]国务院办公厅.杭州规划-《杭州市城市总体规划(2001-2020年)》(2016年修订)(国函[2016]16号)[Z].2016-1-11.
[10]Loane M,Morris J K,Addor M C,et al.Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe:impact of maternal age and prenatal screening[J].European Journal of Human Genetics Ejhg,2013,21(1):27-33.
[11]Wu J,Morris J K.The population prevalence of Down′s syndrome in England and Wales in 2011[J].European Journal of Human Genetics Ejhg,2013,21(9):1016-9.
[12]Shin M,Besser L C,Kucik J E,et al.Prevalence of spina bifida among children and adolescents in 10 regions in the United States[J].Pediatrics,2010,126(2):274-279.
[13]徐宏燕,刘凯波,齐庆青.2010年-2014年北京地区唐氏综合征筛查情况分析[J].中国优生与遗传杂志,2016,24(2):48-49.
[14]王玉丰,等.三亚地区新生儿唐氏综合征流行病学调查及相关发病因素研究[J].重庆医学,2015,44(2):235-236+224.
[15]李建平,马健,李超.成都市锦江区2008年-2013年孕中期唐氏综合征妊娠流行病学队列分析[J].中国优生与遗传杂志,2015,23(3).41-42.
[16]刘焕玲,朱姝,胡云英,等.新生儿出生缺陷24120例监测数据评价孕中期血清学产前筛查质量[J].中国实用妇科与产科杂志,2016,32(5):437-440.
[17]李科生,等.1997~2007年中国围产儿中唐氏综合征监测资料的分析[J].现代预防医学,2009,36(13):2442-2444.
[18]毕丽华,丁伟,柳洁.大连地区唐氏综合征发生率的调查研究[J].中国优生与遗传杂志,2012,20(9):33-35.
[19]Deng C,et al.Recent trends in the birth prevalence of Down syndrome in China:impact of prenatal diagnosis and subsequent terminations[J].Prenatal Diagnosis,2015,35(4):311-318.
[20]Gekas J,Langlois S,Ravitsky V,et al.Non-invasive prenatal testing for fetal chromosome abnormalities:review of clinical and ethical issues[J].Application of Clinical Genetics,2016,9:15-26.
[21]吕时铭.高龄孕妇的产前诊断[J].中华检验医学杂志,2016,39(6):401-403.
[22]Mcnally R,Rankin J M,Rushton S,et al.Space-time analysis of Down syndrome:results consistent with transient pre-disposing contagious agent[J].International Journal of Epidemiology,2008,37(5):1169-1179.
[23]李荔荔,刘冰,杨柳,等.沈阳市人群唐氏综合征儿发生状况流行病学调查[J].中国妇幼保健,2011,26(3):417-418.
[24]De G G,Buckley F,Skotko B G.Live births,natural losses,and elective terminations with Down syndrome in Massachusetts.Genetics in Medicine Official[J].Journal of the American College of Medical Genetics,2016,18(5):459.