南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (08): 1092-.

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早孕期胎儿胼胝体发育不良高危人群的产前超声诊断

黎文雅，余艳红，李胜利，文华轩，王晨虹，袁鹰，郑琼，毕静茹，欧阳玉容，曾庆凯，刘慧文，肖志莲   

  • 出版日期:2014-08-20 发布日期:2014-08-20

An approach to screen fetal agenesis of the corpus callosum at 11-13+6 weeks

  • Online:2014-08-20 Published:2014-08-20

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摘要： 目的探索早孕期胼胝体发育不良（ACC）胎儿和前脑无叶无裂畸形（HPE）胎儿颅脑结构是否有改变。方法选择2013年
06 月~2013 年10 月在我院超声科检查的正常胎儿早孕期NT图像，及2011 年1 月1 日~2013 年10 月31 日我院诊断为ACC或
HPE并且在我院超声科存有早孕期资料的胎儿。分别测量不同组早孕期（11~13+6周）胎儿颅脑正中矢状切面MD、FD值，计算
MD/FD比值。所有数据采用SPSS 20.0软件包进行统计学处理。结果共有620例正常胎儿，5例ACC胎儿，13例HPE胎儿纳
入研究。ACC胎儿和HPE胎儿早孕期胎儿颅脑正中矢状切面MD值、FD值、MD/FD比值差异无统计学意义（P均>0.05）。ACC
及HPE胎儿颅脑正中矢状切面MD值、FD值、MD/FD比值均较正常胎儿发生明显改变（P<0.05）。所有ACC和HPE胎儿颅脑
正中矢状切面MD值大于正常组胎儿，80% ACC及84.6% HPE胎儿颅脑正中矢状切面FD值小于正常组胎儿，ACC组及HPE
组胎儿的MD/FD比值均大于1，而正常组MD/FD比值均小于1。结论早孕期ACC胎儿颅脑正中矢状切面MD、FD值，MD/FD
比值较正常均发生明显改变，且这一改变在合并有ACC胎儿中也同样明显。因此早孕期胎儿颅脑正中矢状切面MD值、FD值、
MD/FD比值可能是一个非常有潜力的早期发现ACC异常胎儿的新指标，为早期筛查ACC高危人群、发现不易察觉的神经系统
或神经系统外畸形提供线索。

Abstract: Objective To detect structural changes in the brain in fetuses with agenesis of the corpus callosum (ACC) and
holoprosencephaly (HPE) in the first trimester. Methods The ultrasound data were analyzed retrospectively in 620 normal
singleton fetuses between 11 and 13 + 6 gestational weeks, 5 fetuses diagnosed to have ACC, and 13 fetuses with HPE. The
midbrain diameter (MD) and falx diameter (FD) were measured and their ratio (MD/FD) was calculated for comparative
analysis. Results No significant difference was found in the MD, FD, and MD/FD ratio between fetuses with ACC and HPE (P>
0.05). Compared to the normal fetuses, all the fetuses with ACC and HPE showed significantly increased mean MD and MD/
FD ratio (P<0.05); 4 (80%) fetuses with ACC and 11 (84.6%) with HPE had a reduced FD. All the fetuses with ACC and HPE
had MD/FD ratios greater than 1, which were below 1 in all the normal fetuses. Conclusion In the first trimester, fetuses with
ACC and HPE have measurable abnormalities in the midbrain and falx area of the brain, and these changes, represented by
abnormal midsagittal MD, FD and their ratio, can be of value in detecting ACC or HPE in fetuses in the first trimester.