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

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。

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.