1998-2010年珠海市地中海贫血大规模人群的遗传筛查和产前诊断结果分析  

Large-scale population-based genetic screening and prenatal diagnosis for thalassemias in Zhuhai City of Guangdong Province

作　　者：周玉球[1] 商璇[3] 尹保民[2] 熊符[3] 肖奇志[1] 周万军[3] 张永良[1] 徐湘民[3] 

机构地区：[1]广东省珠海市妇幼保健院医学遗传研究所,519001 [2]广东省珠海市妇幼保健院产科,519001 [3]南方医科大学基础医学院医学遗传学教研室

出　　处：《中华妇产科杂志》2012年第2期90-95,共6页Chinese Journal of Obstetrics and Gynecology

基　　金：基金项目：广东省自然科学基金（04101691、9451051501002517）;广东省科技计划（2008A030201018、2009A030301002）

摘　　要：目的 分析1998-2010年间在广东省珠海市开展的地中海贫血（地贫）大规模人群预防控制计划的实施效果.方法 以珠海市妇幼保健院为主体构建地贫遗传筛查网络,以婚前医学检查对象（1998-2003年）和常规产前检查人群及其配偶（2004-2010年）作为筛查对象,采用地贫杂合子筛查策略,进行α和β地贫特征的筛查.对所有可疑地贫基因携带者进行随访和遗传咨询,并采用基于PCR的基因诊断技术对高风险夫妇进行确诊.在知情同意选择的情况下,对严重类型地贫高风险胎儿实施产前基因诊断并终止妊娠.结果 从1998年1月1日至2010年12月31日期间,共筛查了85 522例拟婚育龄青年和41 503例孕妇及其配偶14 141例,婚前医学检查和产前检查地贫筛查覆盖率分别为92.698％（1998-2003年）和27.667％（2004-2010年）.在10 726例地贫筛查阳性的病例中,α和β地贫分别为7393例（5.237％,7 393/141 166）和3333例（2.361％,3 333/141 166）.总计发现257对有生育严重类型地贫儿可能的高风险夫妇（α地贫190对和β地贫67对）,对其中的251对（97.7％,251/257）进行了产前诊断.本预防控制计划实施后共减少了72例严重类型地贫患儿的出生,其中α地贫患儿49例,使珠海市严重类型α地贫患儿出生率年平均下降了32.9％（49/149）.结论 本研究通过13年地贫的大规模人群遗传筛查和产前诊断,有效降低了珠海市严重类型地贫围产儿的出生率,所总结出来的地贫预防控制技术方案,可为我国其他地贫高发地区开展类似预防控制计划提供借鉴.Objective To report the results of preventive control program of severe thalassemias in Zhuhai City of Guangdong Province from 1998 to 2010.Methods As the guide centre of marriage and childbearing and the greatest maternity hospital in Zhuhai City of Guangdong Province,Zhuhai Municipal Maternity and Child Healthcare Hospital constructed the genetic screening network for thalassemias testing and referred for follow-up and for genetic counseling.The couples for premarital medical examination or regular healthcare examination in pregnancy were enrolled to this preventive control program.A conventional strategy of screening for heterozygote was used to identify the α- and β-thalassemia traits in women and their spouses according to the standard procedures of hematological phenotype analysis which was recommended by Thalassemia International Federation （T IF）.Then those suspected couples at risk were diagnosed for α- and β-thalassemia by PCR-based DNA assays.The couples at risk for severe thalassemias were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus in the rights of consent and of option voluntarily.Results From January 1998 to December 2010,85 522 brides and grooms-to-be for premarital screening and 41 503 pregnant women in addition to 14 141 partners for prenatal screening were recorded,the covering rates of premarital screening and prenatal screening in the city were 92.698% （from 1998 to 2003） and 27.667% （from 2004 to 2010）,respectively.Totally 10 726 cases were found to be the carriers of thalassemias,with 7393 for o-thalassemia （5.237%,7 393/141 166） and 3333 for β-thalassemia （2.361%,3 333/141 166）.A total of 257 couples at-risk for severe thalassemias were detected including 190 for α-thalassemia and 67 for β-thalassemia.Among them,251 （97.7%,251/257） couples were performed prenatal diagnosis.During the preventive control program,a total of 72 fetuses with severe thalassemias including hemoglobin H disease were voluntarily t

关 键 词：地中海贫血 遗传筛查 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]