• 医学文献
  • 知识库
  • 评价分析
  • 全部
  • 中外期刊
  • 学位
  • 会议
  • 专利
  • 成果
  • 标准
  • 法规
  • 临床诊疗知识库
  • 中医药知识库
  • 机构
  • 作者
热搜词:
换一批
论文 期刊
取消
高级检索

检索历史 清除

医学文献 >>
  • 全部
  • 中外期刊
  • 学位
  • 会议
  • 专利
  • 成果
  • 标准
  • 法规
知识库 >>
  • 临床诊疗知识库
  • 中医药知识库
评价分析 >>
  • 机构
  • 作者
热搜词:
换一批

广东省常用的三种β地中海贫血产前筛查方案的临床筛查效果比较

Comparison of the effect of three β-thalassemia prenatal screening strategies using in Guangdong province

摘要:

目的对广东省常用的3种胎儿β地中海贫血(β地贫)产前筛查方案的临床筛查效果和实用价值进行比较。方法收集2012年6—12月广东省21个县或区的91家医院分娩或引产的13284例孕妇及其丈夫、13369例新生儿或胎儿作为研究对象,对孕妇及其丈夫的血常规平均红细胞容积(MCV)和平均红细胞血红蛋白(MCH)水平、血红蛋白A2(Hb A2)水平进行检测,同时对孕妇及其丈夫、新生儿或胎儿进行β地贫基因的检测。3种β地贫产前筛查方案:(1)孕妇血常规和血红蛋白(Hb)分析串联方案:孕妇MCV<82 fl和(或)MCH<27 pg者行Hb A2电泳分析;若孕妇Hb A2水平升高(>3.5)则视为孕妇β地贫筛查阳性,孕妇确定携带β地贫基因后其丈夫若Hb A2水平升高(>3.5)则视为夫妇β地贫筛查阳性。(2)孕妇血常规和Hb分析并联方案:孕妇若MCV<82 fl或(和)MCH<27 pg或(和)Hb A2水平升高(>3.5)则为孕妇和夫妇β地贫筛查阳性,孕妇确定携带β地贫基因后丈夫直接进行β地贫基因检测。(3)夫妇血常规和Hb分析串联方案:若夫妇之一者或均MCV<82 fl和(或)MCH<27 pg,则夫妇同时进行Hb A2电泳分析,夫妇之一者或均Hb A2水平升高(>3.5)则视为夫妇β地贫筛查阳性。比较3种β地贫产前筛查方案的筛查效果。结果(1)孕妇血常规和Hb分析串联方案筛查结果显示,其筛查孕妇β地贫的敏感度为92.69%(583/629),特异度为99.87%(12638/12655),阳性预测值97.17%(583/600),阴性预测值99.64%(12638/12684)。β地贫基因检测结果显示,13284例孕妇的β地贫基因携带率为4.74%(629/13284),其丈夫为4.29%(570/13284)。(2)孕妇血常规和Hb分析串联方案筛查出27对(0.20%,27/13284)夫妇同时携带β地贫基因,孕妇血常规和Hb分析串联方案筛查夫妇均为β地贫的漏诊率为11.11%(3/27),其敏感度为88.89%(24/27),特异度为100.00%(27/27),阳性预测值100.00%(24/24),阴性预测值99.98%(13257/13260)。(3)孕妇血常规和Hb分析串联方案筛查的13369例新生儿或胎儿中,有582例(4.35%,582/13369)为携带β地贫基因,其中578例(99.31%,578/582)为轻型β地贫,3例(0.52%,3/582)为中间型β地贫,1例(0.17%,1/582)为重型β地贫。孕妇血常规和Hb分析串联方案共筛查出25例需要产前诊断β地贫基因的胎儿。(4)孕妇血常规和Hb分析并联方案筛查结果显示,其筛查孕妇β地贫的敏感度为98.09%(617/629),特异度为88.73%(11229/12655),阳性预测值为30.20%(617/2043),阴性预测值为99.89%(11229/11241)。(5)孕妇血常规和Hb分析并联方案筛查夫妇均为β地贫的敏感度为100.00%(27/27)、特异度为95.55%(12667/13257),阳性预测值4.38%(27/617),阴性预测值100.00%(12667/12667)。(6)孕妇血常规和Hb分析并联方案筛查在13369新生儿或胎儿中,共筛查出28例需要行产前诊断β地贫基因的胎儿。(7)夫妇血常规和Hb分析串联方案筛查结果显示,其筛查孕妇β地贫的敏感度为93.80%(590/629),特异度为95.75%(12117/12655),阳性预测值52.30%(590/1128),阴性预测值99.68%(12117/12156);该方案筛查丈夫β地贫的敏感度为92.28%(526/570),特异度为95.27%(12112/12714),阳性预测值46.63%(526/1128),阴性预测值99.64%(12112/12156)。(8)夫妇血常规和Hb分析串联方案筛查夫妇均为β地贫的敏感度为100.00%(27/27),特异度为91.69%(12156/13257),阳性预测值2.39%(27/1128),阴性预测值100.00%(12156/12156)。(9)夫妇血常规和Hb分析串联方案筛查出28例需要行产前诊断β地贫基因的胎儿。结论3种β地贫筛查方案均具有良好的临床和筛查效果,但对于β地贫高发地区,夫妇血常规和Hb分析串联方案及孕妇血常规和Hb分析并联方案更具有临床实用价值。

更多
abstracts:

Objective To compare the effect of three β-thalassemia prenatal screening strategies in Guangdong province. Methods A total of 13 284 hospital-delivered couples and 13 369 newborns were recruited from 91 hospitals in 21 counties or districts of Guangdong province from June to December 2012. Mean cell volume (MCV), mean corpuscular hemoglobin (MCH) and hemoglobin A2 (Hb A2) were tested for all the couples, and all the couples and newborns were detected by 17 types ofβ-globin gene mutations. The effect of three β-thalassemia prenatal screening strategies were compared as following:(1) MCV/MCH with Hb A2 serial screening(SS):Hb A2 was tested if the woman′s MCV<82 fl and(or)MCH<27 pg. If the woman′s Hb A2>3.5, it meant positive. And if the woman wasβ-thalassemia carrier and her husband′s Hb A2>3.5, it meant couple positive. (2) MCV/MCH with Hb A2 parallel screening(PS):if the woman′s MCV<82 fl and (or) MCH<27 pg and(or) Hb A2>3.5 pg, it meant couple positive. And the husband would be tested forβ-globin gene mutations if the woman was β-thalassemia carrier. (3) MCV/MCH with Hb A2 serial screening for couples(SSC):if one of the couple or both of them had MCV<82 fl and(or) MCH<27 pg, the couple would be tested for Hb A2, and if one of the couple got Hb A2>3.5, it meant couple positive. Results (1) For the SS strategy, the sensitivity was 92.69%(583/629);the specificity was 99.87%(12 638/12 655); the positive predictive value was 97.17%(583/600);and the negative predictive value was 99.64%(12 638/12 684). The results ofβ-globin gene mutations tested showed that the rate ofβ-thalassemia carriers was 4.74%(629/13 284) in the 13 284 pregnant women, and it was 4.29%(570/13 284) in their husbands. (2) The SS strategy detected 27 (0.20%,27/13 284) β-thalassemia carrier couples. For the SS strategy detecting β-thalassemia carrier couples, the missed diagnosis rate was 11.11%(3/27);the sensitivity was 88.89%(24/27);the specificity was 100.00%(27/27); the positive predictive value was 100.00%(24/24); and the negative predictive value was 99.98%(13 257/13 260). (3) When using the SS strategy for 13 369 offsprings, there were 582β-thalassemia carriers (4.35%,582/13 369), including 578 (99.31%,578/582) minorβ-thalassemia, 3 (0.52%,3/582) intermediaβ-thalassemia and 1 (0.17%,1/582) major β-thalassemia. The SS strategy detected 25 fetuses who neededβ-thalassemia prenatal diagnosis. (4) For the PS strategy, the sensitivity was 98.09%(617/629); the specificity was 88.73%(11 229/12 655); the positive predictive value was 30.20%(617/2 043); and the negative predictive value was 99.89%(11 229/11 241). (5) When using the PS strategy for theβ-thalassemia carrier couples, the sensitivity was 100.00%(27/27);the specificity was 95.55%(12 667/13 257);the positive predictive value was 4.38%(27/617);and the negative predictive value was 100.0%(12 667/12 667). (6) The PS strategy detected 28 fetuses who needed β-thalassemia prenatal diagnosis in 13 369 offsprings. (7) For the SSC strategy, the sensitivity was 93.80%(590/629); the specificity was 95.75%(12 117/12 655); the positive predictive value was 52.30%(590/1 128); and the negative predictive value was 99.68%(12 117/12 156). When the SSC strategy was used for the husbands, the sensitivity was 92.28%(526/570); the specificity was 95.27%(12 112/12 714);the positive predictive value was 46.63%(526/1 128); and the negative predictive value was 99.64%(12 112/12 156). (8) When the SSC strategy was used inβ-thalassemia carrier couples, the sensitivity was 100.00%(27/27);the specificity was 91.69%(12 156/13 257);the positive predictive value was 2.39%(27/1 128);and the negative predictive value was 100.00%(12 156/12 156). (9) The SSC strategy detected 28 fetuses who neededβ-thalassemia prenatal diagnosis. Conclusions All the three β-thalassemia prenatal screening strategies had good effect in clinical practice and public health. While in the high-prone area of β-thalassemia, MCV/MCH with Hb A2 parallel screening and MCV/MCH with Hb A2 serial screening for couples stratigies were better.

More
  • 浏览:615
  • 下载:384

加载中!

相似文献

  • 中文期刊
  • 外文期刊
  • 学位论文
  • 会议论文

加载中!

加载中!

加载中!

加载中!

扩展文献

特别提示:本网站仅提供医学学术资源服务,不销售任何药品和器械,有关药品和器械的销售信息,请查阅其他网站。

  • 客服热线:4000-115-888 转3 (周一至周五:8:00至17:00)

  • |
  • 客服邮箱:yiyao@wanfangdata.com.cn

  • 违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

官方微信
万方医学小程序
new翻译 充值 订阅 收藏 移动端

官方微信

万方医学小程序

使用
帮助
Alternate Text
调查问卷