探讨早孕期超声筛查胎儿前脑无裂畸形（HPE）的图像特征及临床价值。

选择2009年1月至2017年1月在南京大学医学院附属鼓楼医院产前诊断中心行孕11~13^＋6周早孕期超声筛查的胎儿35 580例，重点观察胎儿颅脑及面部结构，对检出的前脑无裂畸形胎儿，追踪妊娠过程及临床结局。

早孕期超声检出前脑无裂畸形胎儿5例，1例合并眼距过窄、喙鼻；1例合并喙鼻、唇腭裂、先天性心脏病（室间隔缺损、左心发育不良）、水肿（颈部淋巴水囊瘤、皮下水肿、胸腔积液）、脐膨出；1例合并NT增厚；1例合并下颌短小；1例胎儿未检出合并畸形。5例前脑无裂胎儿中1例染色体检查为13-三体综合征；其余4例未行胎儿染色体检查。因孕妇未选择病理解剖检查，流产后仅行胎儿外观检查，显示1例胎儿唇裂、单鼻孔、小下颌畸形；1例胎儿水肿、多指、耳廓畸形；1例胎儿喙鼻、唇腭裂、脐膨出、水肿；1例胎儿喙鼻、眼距过窄。

早孕期超声结构筛查可有效检出胎儿前脑无裂畸形及合并畸形，为早期产科处理提供可靠依据。

To determine the image feature and clinical value of first-trimester ultrasonographic diagnosis of fetal holoprosencephaly.

A total 35 580 fetuses at gestational age between 11^{+ 6} and 13^{+ 6} weeks were scanned in our hospital by color Doppler ultrasound according to the prenatal ultrasound from Jan 2009 to Jan 2017. Fetal craniocerebral and faceprestige were checked carefully. Cases of fetal holoprosencephaly diagnosed in first-trimester were followed sonographically, and the clinical outcomes were recorded.

Totally five cases of fetal holoprosencephaly were detected. Four fetuses with other associated malformations were detected by first trimester ultrasound, including one case with beak nosetril, eyes too close, one case with beak nosetril, fetal cleft lip and palate, fetal hydrops, congenital heart disease and mid gut herniation, one case with thickened nucha. One translucency (NT), one case with mandibular micrognathia, one case with trisomy 13 syndrome, the other four cases were not checked.Terminal of pregnancy was performed in four cases during early pregnancy, one case was loss to follow-up. Autopsy was refused in these cases. Fetal appearance revealed one case of cleft lip, single nostril, mandibular micrognathia, one case of hydrops, polyphalangia, microtia, one case of beak nosetril, fetal cleft lip and palate, mid gut herniation, hydrops, one case of beak nosetril, eyes too close.

Fetal holoprosencephaly can be effectively detected and diagnosed during early pregnancy with standardized prenatal ultrasound.