Objective To investigate the ultrasonographic characteristics, cerebral and extracerebral malformation, chromosomal abnormality and prognosis of fetal corpus callosum agenesis( ACC). Methods 36 cases of fetal ACC were retrospectively analyzed from January 2008 to April 2011 in our hospital. Results 36 cases of fetal ACC were diagnosed by ultrasonography, with 19 cases combined other parts of malformation. The diagnostic results with MRI were as the same as with ultrasound in 4 cases. 31 cases were performed Down syndrome screening, which were high risk in 16 cases. 12 cases were performed chromosomal screening, with 1 case of 18 - trisomy and 1 case of inv 9. In the following up, 29 cases were performed induced abortion, 4 cases were birth, and 3 cases were lost of follow up. Conclusions The fetal ACC is often associated with other parts of malformation, prenatal ultrasonic examination can make the preliminary diagnosis for this disease. When ultrasonographic diagnosis of this disease is not clear, MRI can be used as auxiliary method to provide effective clinical information, which can provide the evidence for making suitable decision.%目的 探讨胎儿胼胝体发育不全(agenesis of corpus callosum,ACC)的超声特点、合并的颅内外畸形、染色体及预后状况.方法 回顾性分析我院2008年1月～2011年4月产前超声诊断为胎儿ACC的胎儿共36例.结果 超声诊断为胎儿ACC 36例,其中19例合并其他部位畸形；4例孕妇行核磁共振检查,其结果与超声诊断一致；31例行唐氏筛查,16例为唐氏高风险；12例行染色体检查,1例18-三体综合征,1例9号臂间倒位核型(inv 9).随访结果中,29例进行了引产,4例出生,3例失访.结论 胎儿ACC常合并其他部位的畸形,产前超声检查能够为胎儿ACC作出初步诊断,当超声不能明确诊断时,MRI可以作为辅助检查方法,为制定适合的决策提供依据.
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