Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report
Abstract Background 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,...
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2025-08-01
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| Online Access: | https://doi.org/10.1186/s13256-025-05449-y |
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| author | Prajwal Dahal Rudra Prasad Upadhyaya Ongden Yonjen Tamang Sabina Parajuli |
| author_facet | Prajwal Dahal Rudra Prasad Upadhyaya Ongden Yonjen Tamang Sabina Parajuli |
| author_sort | Prajwal Dahal |
| collection | DOAJ |
| description | Abstract Background 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. Case report 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. Conclusion 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. |
| format | Article |
| id | doaj-art-ee305ff10199443fa02c56fc7f2d87fc |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-ee305ff10199443fa02c56fc7f2d87fc2025-08-20T03:43:11ZengBMCJournal of Medical Case Reports1752-19472025-08-011911510.1186/s13256-025-05449-yDistinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case reportPrajwal Dahal0Rudra Prasad Upadhyaya1Ongden Yonjen Tamang2Sabina Parajuli3Consultant Radiologist, Department of Radiology and Imaging, Grande International HospitalConsultant Radiologist, Department of Radiology and Imaging, Grande International HospitalConsultant Radiologist, Department of Radiology and Imaging, Grande International HospitalResident PGY-2 Pathology, Department of Pathology, Bir HospitalAbstract Background 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. Case report 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. Conclusion 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.https://doi.org/10.1186/s13256-025-05449-yAssisted reproductive techniqueOmphalocelePseudo-omphaloceleUltrasonography |
| spellingShingle | Prajwal Dahal Rudra Prasad Upadhyaya Ongden Yonjen Tamang Sabina Parajuli Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report Journal of Medical Case Reports Assisted reproductive technique Omphalocele Pseudo-omphalocele Ultrasonography |
| title | Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report |
| title_full | Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report |
| title_fullStr | Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report |
| title_full_unstemmed | Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report |
| title_short | Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report |
| title_sort | distinguishing omphalocele from pseudo omphalocele highlighting the ultrasonography pitfall a case report |
| topic | Assisted reproductive technique Omphalocele Pseudo-omphalocele Ultrasonography |
| url | https://doi.org/10.1186/s13256-025-05449-y |
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