陈敏玲,方群,谢红宁,陈宝江,杨永忠,陈筠虹,陈涌珍.遗传学超声检查胎儿常见的染色体三体的探讨[J].中国医学影像技术,2006,22(4):600~602
遗传学超声检查胎儿常见的染色体三体的探讨
Genetic ultrasound: diagnostic value in detection of the trisomy in fetuses
投稿时间:2005-11-20  修订日期:2006-01-10
DOI:
中文关键词:  遗传学超声  三体性  胎儿  超声检查,产前
英文关键词:Genetic ultrasound  Trisomy  Fetus  Ultrasonography, prenatal
基金项目:本课题受广东省科委攻关基金资助(B30501)。
作者单位E-mail
陈敏玲 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
方群 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080 qun-fang@163.com 
谢红宁 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
陈宝江 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
杨永忠 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
陈筠虹 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
陈涌珍 中山大学附属第一医院妇产科胎儿医学中心,广东 广州 510080  
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中文摘要:
      目的 探讨遗传学超声检查对染色体三体胎儿的诊断价值。分析胎儿各种染色体三体超声波常见的异常。方法 经产前诊断确诊为染色体三体的胎儿52例, 其中遗传学超声检查组34例, 普通超声检查组18例,比较两组超声检查结果。结果 遗传学超声检查组的异常征象的检出率显著高于普通超声检查组(91.18%比44.44%,P<0.05);对21三体胎儿超声异常征象检出率亦显著高于普通超声检查组(86.67%比30.77%,P<0.05)。多发异常的检出率依次为13三体(100%)、18三体(94.12%)、21三体(70.5%)。结论 遗传学超声检查可提高常见染色体三体胎儿的检出率,尤其对于21三体。
英文摘要:
      Objective To investigate the diagnostic value of genetic ultrasound in detecting abnormalities of the fetuses in the trisomy. Methods The retrospective analysis included the data of 52 fetuses with trisomy from April, 1994 to Jul, 2005. Genetic ultrasound was performed in 34 cases and routine ultrasound was applied in 18 cases. The karyotype of all cases was confirmed by amniocentesis or cordocentesis. The detection rate of abnormal ultrasound findings was compared between the two groups. Results The detection rate in the genetic ultrasound group was higher (91.18% vs 44.44%, P<0.05); Compared to the control group, the detection rate of trisomy 21 in genetic ultrasound group was significantly higher than routine ultrasound (86.67% vs 30.77%, P<0.05); The detection rate of detecting fetuses with multiple abnormalities,was 100% in trisomy 13, 94.12% in trisomy 18 and 70.5% in trisomy 21, respectively. Conclusion The genetic ultrasound can significantly improve the detection rate of fetuses with abnormalities in trisomy, especially in trisomy 21.
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