孕中期超声软性标记在21三体综合征产前诊断中的作用

目的评价孕中期超声软性标记在21三体综合征产前诊断中的作用。方法对70例在孕中期因超声检查发现软性标记的孕妇进行产前诊断,超声软性标记包括胎儿颈皮厚度增加、双肾盂轻度分离、心室内强回声点、肠管回声增强、股骨及肱骨短小、脑室轻度扩张,其中仅含有一项超声软性标记的孕妇34例,含有两项或两项以上超声软性标记的孕妇36例,产前诊断方法采用羊膜腔穿刺术和脐血管穿刺术。结果在仅含有一项超声软性标记的34例孕妇中发现胎儿染色体异常5例,其中确诊21三体综合征4例,1例是染色体平衡易位。而含有两项或两项以上超声软性标记的36例孕妇未发现胎儿染色体异常。结论孕中期超声软性标记的出现增加胎儿21三体综合征的风险,特别对高龄孕妇或唐氏综合征血清筛查高风险的孕妇,应建议尽早产前咨询并考虑产前诊断。

The role of the presence of sonographic markers in the second trimester for prenatal detection of Down syndrome.

Objective：To assess the value of the presence of sonographic markers in the second trimester for prenatal detection of Down syndrome.Methods：Prenatal diagnosis was done on 70 pregnant women for the presence of sonographic markers in the second trimester.The sonographic markers include nuchal fold,pyelectasis,echogenic intracardiac focus,hyperechoic bowel,short femur and humerus,mild ventriculomegaly.Among 70 cases,34 cases were 1 isolated marker,36 cases were 1 associated with other markers.Amniocentesis or cordocentesis was done on these women.Results：Five cases of abnormal karyotype were found,among 34 pregnant women who were 1 isolated marker,four cases were diagnosed as Down syndrome,and one case was diagnosed as balanced translocation.No abnormal karyotype was found among 36 pregnant women who were 1 associated with other markers.Conclusion：The presence of sonographic markers is being used to identify fetuses as high risk for having Down syndrome in the second trimester,particularly in a woman at increased risk due to advance maternal age or abnormal serum screen,should prompt counseling and consideration of prenatal diagnosis.