论文部分内容阅读
目的探讨产前筛查诊断胎儿先天性心脏病的价值,为遗传咨询提供依据。方法采用美国GE公司Voluson730 PRO超声仪,经腹部产前检查共20 275例。其中16例经孕妇知情同意后,采用羊膜腔穿刺,获取羊水细胞培养染色体G显带核型分析。结果发现先天性心脏病123例,其发生率为6.07‰。羊水细胞中发现染色体异常7例,发生率为43.75%。结论在产前超声检查结合遗传学诊断,使产前诊断可以达到一个新的技术水平,超声检查不仅评估胚胎和胎儿的生长及健康状况,同时可估计胎儿结构畸形是一个很有价值手段。
Objective To investigate the value of prenatal screening in diagnosis of fetal congenital heart disease and to provide evidence for genetic counseling. Methods US GE Voluson730 PRO ultrasound system, transabdominal prenatal examination a total of 20 275 cases. In 16 of them, the karyotype of G-band in amniotic fluid cell culture was obtained by amniocentesis with the informed consent of pregnant women. 123 cases of congenital heart disease were found, the incidence was 6.07 ‰. Amniotic fluid cells found in 7 cases of chromosomal abnormalities, the incidence was 43.75%. Conclusion Prenatal ultrasound combined with genetic diagnosis of prenatal diagnosis can reach a new level of technology, ultrasound not only to assess the embryonic and fetal growth and health status, can also be estimated fetal structural deformity is a valuable tool.