Zhou Qiao, Sha Enbo, Ding Qian, Jing Chunli
Department of Obstetric and Gynecological Ultrasound, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.
BMC Pregnancy Childbirth. 2025 Jan 20;25(1):43. doi: 10.1186/s12884-025-07168-0.
Diprosopus is one of the rarest anomalies. It typically manifests as bilateral alterations and often involves anomalies within the cranial structures. In this report, we present a case of a fetus with diprosopus diagnosed prenatally. Along with reviewing relevant literature on prenatal ultrasound diagnosis of diprosopus, we aim to raise awareness of its ultrasound characteristics.
We report a case of craniofacial and intracranial abnormalities detected during a 26-week ultrasound examination. Two-dimensional ultrasound (2D ultrasound) demonstrates significant increases in head circumference, widening of the interocular distance, and abnormal echo patterns in the facial structure. Three-dimensional ultrasound (3D ultrasound) revealed the presence of three eye sockets (the lateral eye sockets contained eyeballs, while the central region exhibited fusion without visible eyeballs), two noses, and two mouths, with no abnormalities observed in other areas. The ultrasound findings suggested diprosopus. Following risk counseling at the prenatal diagnosis center, the pregnant woman decided to induce labor. The newborn passed away thirty minutes after delivery. The facial features of the newborn were consistent with the 3D ultrasound imaging, and the appearance of the trunk and limbs was normal. Both CT and MRI scans confirmed the diagnosis of diprosopus.
The prenatal 2D ultrasound revealed intracranial and facial abnormalities in the fetus. 3D ultrasound imaging clearly displayed the facial duplication anomalies, highlighting the advantages of 3D ultrasound in diagnosing diprosopus. We hope to raise awareness of this rare condition and provide insights into prenatal ultrasound diagnosis through this case.
双面畸形是最罕见的畸形之一。它通常表现为双侧改变,且常涉及颅骨结构内的异常。在本报告中,我们呈现一例产前诊断为双面畸形的胎儿病例。在回顾双面畸形产前超声诊断的相关文献的同时,我们旨在提高对其超声特征的认识。
我们报告一例在孕26周超声检查时发现的颅面及颅内异常病例。二维超声(2D超声)显示头围显著增加、眼间距增宽以及面部结构回声异常。三维超声(3D超声)显示存在三个眼眶(外侧眼眶包含眼球,而中央区域呈现融合且无可见眼球)、两个鼻子和两张嘴,其他区域未见异常。超声检查结果提示为双面畸形。在产前诊断中心进行风险咨询后,孕妇决定引产。新生儿出生后30分钟死亡。新生儿的面部特征与3D超声成像一致,躯干和四肢外观正常。CT和MRI扫描均证实了双面畸形的诊断。
产前二维超声显示胎儿颅内和面部异常。三维超声成像清晰显示了面部重复畸形,突出了三维超声在诊断双面畸形方面的优势。我们希望通过本病例提高对这种罕见疾病的认识,并为产前超声诊断提供见解。