Dahal Prajwal, Upadhyaya Rudra Prasad, Tamang Ongden Yonjen, Parajuli Sabina
Consultant Radiologist, Department of Radiology and Imaging, Grande International Hospital, Kathmandu, Nepal.
Resident PGY-2 Pathology, Department of Pathology, Bir Hospital, Kathmandu, Nepal.
J Med Case Rep. 2025 Aug 5;19(1):388. doi: 10.1186/s13256-025-05449-y.
Omphalocele is a congenital anomaly where abdominal contents herniate through a defect in the fetal abdominal wall, covered by peritoneum and amnion. It is associated with high mortality and other anomalies. Pseudo-omphalocele is a potential pitfall in antenatal ultrasonography, where a transient bulge of abdominal contents may appear owing to factors such as a contracted uterus, placenta, or excessive transducer pressure.
This report presents two cases: one of true omphalocele in a twin pregnancy and another of pseudo-omphalocele, underscoring the importance of careful assessment. The first case involves a twin pregnancy at 12 weeks' gestation, conceived through assisted reproductive technique in a 38-year-old Nepali woman of Indo-Aryan ethnicity. During a routine check-up, one twin was diagnosed with omphalocele. Trans-abdominal fetal reduction of the anomalous twin was performed. The other twin progressed to term and was delivered via cesarean section at 39 weeks. The second case involved pseudo-omphalocele, observed at 15 weeks' 3 days of gestation in a 32-year-old Nepali woman of Tibeto-Burmese ethnicity. Initially, the fetal abdomen appeared to herniate, mimicking omphalocele. However, a repeat examination after 30 min showed no herniation or defect. Retrospective analysis revealed that the misdiagnosis occurred because the fetal abdomen was compressed between the contracted myometrium and placenta.
Accurate diagnosis of omphalocele is crucial to prevent unnecessary abortions and potential professional repercussions. We recommend repeat examination after 30 min in all cases of omphalocele to prevent misdiagnosis.
脐膨出是一种先天性异常，腹腔内容物通过胎儿腹壁的缺损突出，表面覆盖有腹膜和羊膜。它与高死亡率及其他异常情况相关。假性脐膨出是产前超声检查中的一个潜在陷阱，由于子宫收缩、胎盘或超声探头压力过大等因素，腹腔内容物可能会出现短暂性膨出。
本报告介绍了两例病例：一例是双胎妊娠中的真性脐膨出，另一例是假性脐膨出，强调了仔细评估的重要性。第一例病例为一名38岁的印度 - 雅利安族尼泊尔女性，通过辅助生殖技术受孕，孕12周时双胎妊娠。在常规检查中，其中一个胎儿被诊断为脐膨出。对异常胎儿进行了经腹减胎术。另一个胎儿足月，在39周时通过剖宫产分娩。第二例病例为一名32岁的藏缅族尼泊尔女性，孕15周3天时发现假性脐膨出。最初，胎儿腹部似乎有突出，类似脐膨出。然而，30分钟后复查显示无突出或缺损。回顾性分析表明，误诊是因为胎儿腹部被收缩的子宫肌层和胎盘挤压。
准确诊断脐膨出对于避免不必要的流产和潜在的专业风险至关重要。我们建议对所有脐膨出病例在30分钟后进行复查，以防止误诊。
