13-三体综合征胎儿中孕期产前超声表现分析

Analysis on prenatal ultrasonographic findings of fetuses with trisomy 13 syndrome during the second trimester of pregnancy

目的分析13-三体综合征胎儿的中孕期超声表现和在产前诊断中的意义。方法回顾性分析2012年1月-2015年7月在广西壮族自治区妇幼保健院经产前诊断发现的19例中孕期13-三体综合征胎儿产前超声声像图表现。结果 18例(94.7%)胎儿有超声异常发现,均有2个部位以上异常。其中最多见的超声异常为:心脏畸形(84.2%)、颜面部畸形(84.2%)、颅脑畸形(63.1%),其中以无叶全前脑及其引起的中线性颜面部畸形最具特征性表现。结论绝大部分的13-三体综合征胎儿中孕期超声可发现多部位异常,超声系统检查是对13-三体综合征胎儿有效的产前筛查方法。

Objective To analyze ultrasonographic findings of fetuses with trisomy 13 syndrome during the second trimester of pregnancy and the significance in prenatal diagnosis. Methods The ultrasonographic findings of 19 fetuses with trisomy 13 syndrome during the second trimester of pregnancy diagnosed during prenatal diagnosis in the hospital from January 2012 to July 2015 were analyzed retrospectively.Results Eighteen fetuses（ 94. 7%） were found with two or more than two abnormal ultrasonographic findings. The most common abnormal ultrasonographic findings were cardiac defects（ 84. 2%）,craniofacial malformations（ 84. 2%）,and brain malformations（ 63. 1%）. Holoprosencephaly and its related malformations in facial area were characteristic findings. Conclusion The majority of the fetuses with trisomy13 syndrome can be found with ultrasonographic abnormalities during the second trimester of pregnancy,prenatal ultrasonography is an effective method in prenatal screening.