张丽　李彦娟　杨艳丽　刘彩云

[摘要] 目的 总结胎儿前脑无裂畸形（HPE）的产前超声图像特征，探讨超声在产前诊断和鉴别诊断中的价值。 方法 回顾性分析该院2014年12月—2017年6月产前超声检查发现的3例胎儿HPE的超声影像表现和其他颅外结构异常表现。 结果 3例HPE病例均有特征的颅内声像图表现，该组研究中1例半叶型HPE，2例叶状型HPE，其中的半叶型HPE合并泌尿系统异常和羊水少，2例叶状HPE也均合并羊水量异常，1例表现为羊水少，1例表现为羊水稍多。 结论 产前超声检查对于胎儿HPE有较高的诊断价值，应重视颅内一系列异常征象并熟悉常见伴发畸形，以提高检出率。

[关键词] 胎儿；前脑无裂畸形；超声

[中图分类号] R5 [文献标识码] A [文章编号] 1674-0742（2018）06（c）-0193-03

[Abstract] Objective This paper tries to summarize the characteristics of prenatal ultrasound imaging of fetal forebrain non-cleaved deformity （HPE）， and to explore the value of ultrasound in prenatal diagnosis and differential diagnosis. Methods This paper retrospectively analyzed the ultrasound imaging findings and other abnormalities of extracranial structures in three cases of fetal HPE found in the hospital from December 2014 to June 2017. Results 3 patients with HPE had characteristic intracranial sonographic appearances. In this study， 1 case of half-lobed HPE and 2 cases of leaf-shaped HPE were included. Half-leaf HPE was associated with urinary tract abnormalities and oligohydramnios， and 2 cases of leaves. All cases of HPE were also associated with abnormal amniotic fluid volume. 1 case showed less amniotic fluid， and 1 case showed more amniotic fluid. Conclusion Prenatal ultrasound examination has a high diagnostic value for fetal HPE. It should pay attention to a series of abnormal signs in the brain and be familiar with the common associated malformations to increase the detection rate.

[Key words] Fetus； Foreheadless crackless deformity； Ultrasound

胎兒前脑无裂畸形（HPE）即全前脑，是胚胎期大脑半球完全性或部分性分裂异常所致，发生率为1∶8 000[1]，是一种严重的中枢神经系统畸形，胎儿病死率较高，尤其无叶HPE，虽然部分轻型（叶状HPE）可存活，但随后会出现智力缺陷及神经内分泌障碍等问题，出生儿生活质量低下[2-4]。该研究2014年12月—2017年6月间回顾性总结3例前脑无裂畸形的产前超声表现，现将有关产前超声的诊断线索和合并的其他异常，现报道如下。

1 资料与方法

1.1 一般资料

方便选择该院产前超声诊断前脑无裂畸形3例，孕妇年龄28～37岁，平均年龄33.3岁，孕周22～33周，平均孕周25+4周。

1.2 仪器与方法

检查仪器为Philips iU Elite彩色多普勒超声诊断仪，探头频率为3.5～5.0 MHz。孕妇取仰卧位，按产科胎儿系统检查规范要求对胎儿进行检查，发现颅内结构异常时，需进行颅脑多切面检查，并对胎儿颜面部、心脏、胸腔、腹腔、脊柱及四肢进行多切面检查以发现是否合并其他颅内、外异常表现。……