摘要:目的: 探討產(chǎn)前超聲檢查對胎兒前腦無裂畸形的診斷及鑒別價(jià)值。 方法 :對我院產(chǎn)前超聲篩查中發(fā)現(xiàn)的17例胎兒前腦無裂畸形的超聲聲像圖及引產(chǎn)后的尸檢資料進(jìn)行回顧性對照分析。 結(jié)果 :產(chǎn)前超聲診斷的17例前腦無裂畸形全部經(jīng)引產(chǎn)后尸檢證實(shí),顱腦異常的聲像圖表現(xiàn)為單一腦室、丘腦融合及腦鐮、胼胝體等中線結(jié)構(gòu)缺如,大多數(shù)病例均伴有不同程度的顏面部畸形。 結(jié)論 :產(chǎn)前超聲對前腦無裂畸形具有重要的診斷價(jià)值,該病特有的顱腦聲像圖特征及大多伴有顏面部畸形的特點(diǎn)有助于診斷及鑒別診斷。Abstract: Objective: To explore the diagnostic and differential diagnostic value of prenatal ultrasound in fetal holoprosencephaly. Methods : The sonograms and autopsy data of 17 cases of fetal holoprosencephaly found in 21568 pregnant women by prenatal ultrasound were analyzed retrospectively. Results : Seventeen cases of fetal holoprosencephaly diagnosed by prenatal ultrasound and autopsy were confirmed. Characteristic ultrasound findings in holoprosencephaly included a single primitive ventricle, fused thalami, absence of midline structures such as the falx cerebri and corpus callosum, and facial abnormalities. Conclusion : Prenatal ultrasound has important value in the diagnosis of fetal holoprosencephaly. The characteristic ultrasound findings of the intracranial and facial abnormalities are helpful for the diagnosis and differential diagnosis of holoprosencephaly.