遗传学超声在常见胎儿染色体病筛查中的应用  

Application of genetic ultrasonography in screening of common fetal chromosome abnormalities

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作  者:韩瑾 杨昕 魏佳雪 袁思敏 胡舜妍 易翠兴 李东至 

机构地区:[1]广州市妇女儿童医疗中心产前诊断中心,广东广州510180

出  处:《中国妇幼健康研究》2009年第6期628-630,634,共4页Chinese Journal of Woman and Child Health Research

基  金:广州市医药卫生科技资助项目(2007-YB-085)

摘  要:目的探讨遗传学超声检查在常见胎儿染色体病筛查中的应用价值,分析常见胎儿染色体病的超声结构及“软指标”异常情况。方法选取经产前诊断确诊的常见胎儿染色体病48例,分析孕期遗传学超声检查结果。结果常见染色体病与胎儿结构畸形密切相关,不同染色体病应用超声的检出率分别为21.三体综合征(63.0%)、18-三体综合征(100.0%)、13-三体综合征(100.0%)、三倍体(100.0%)、Turner综合征(75.0%)。畸形种类越多染色体异常的几率越大,胎儿心血管畸形、神经系统畸形和手足畸形是染色体病中最常见的异常表现,胎儿超声“软指标”异常与21-三体综合征关系密切。结论遗传学超声检查应用于常见胎儿染色体病的筛查有重要意义,可提高染色体病的检出率。Objective To analyse abnormalities in uhrasonographic structure and "soft indexes" of those fetuses with common chromosome abnormaliteis and to evaluate application value of genetic ultrasonography in screening of common fetal chromosome abnormaliteis. Methods 48 fetuses with common chromosome abnormaliteis conformed by prenatal diagnosis were selected. Their genetic ultrasonographic signs during pregnancy were analysed. Results The common chromosome diseases were closely associated with sonographieally identified fetal malformations. The detectable rates of ultrasonography for some chromosome diseases were 63.0% for Trisomy 21, 100.0% for Trisomy 18, 100.0% for Trisomy 13, 100.0% for Triploidy and 75.0% for Turner' s syndrome. The more the category of fetal malformations, the higher the probability of chromosome abnormalities. Fetal malformations in cardiovascular and neural systems and extremities were eommon abnormal presentations of chromosome abnormalities. The fetal soft indexes in ultrasonography were associated closely with Trlsomy 21. Conclusion The application of prenatal genetic ultrasonography in screening of common fetal chromosome diseases can improve detectable rate of chromosoma diseases.

关 键 词:遗传学超声 染色体病 产前诊断 结构畸形 

分 类 号:R714.55[医药卫生—妇产科学]

 

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