全前脑面部畸形的产前超声诊断

Prenatal ultrasonographic evaluation of midline facial defects of holoprosencephaly

目的 探讨全前脑胎儿颜面部的产前超声表现与显示手法,提高产前超声对此类颜面部畸 形的认识。方法 超声对胎儿颜面部进行冠状、矢状及横切面扫查,检出病例与尸检结果比较。结果 检 出14例全前脑胎儿均有不同程度的面部畸形,共出现22个面部畸形,最常见的面部畸形是眼距过近和正 中唇腭裂,最严重的面部畸形为独眼畸形,产前超声总检出率91.7%(22/24)。8例(57.1%)全前脑合并 有面部以外畸形,超声检出7例。结论 二维超声产前对全前脑胎儿面部畸形可准确显示,是诊断全前脑 的可靠佐证。

Objective To review the prenatal ultrasonographic evaluation on fetal midline facial defects of holoprosencephaly. Methods Twenty-four facial malformations of 14 cases with alobar/semilobar holoprosencephaly from August 2000 through April 2004 were reviewed to determine and classify the associated facial abnormalities detected with prenatal sonography. Results There were 24 facial abnormalities in 14 cases with alobar/semilobar holoprosencephaly. Facial abnormalities were present in all cases and were detected in 22 ( 91.7%) of 24 facial malformations on prenatal sonography. One or more extrafacial anomalies were present in 8 ( 57.1%) of 14 fetuses. Conclusions Prenatal sonographic evaluation of midline facial defect may allow more definitive diagnosis of alobar or semilobar holoprosencephaly.