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Giant Isolated Omphalocele Discovered at Birth in a Term Neonate: A Case Report


Authors : Dr. Dina Houjjaj; Dr. Sara Mouhmouh; Dr. Sara Yasyn; Dr. Fatima Zahra Azraq; Amal Benbella; Bouchaib Allae Eddine; Abdelhai Adibe Filali; Mohammed Hassan Alami; Rachid Bezad

Volume/Issue : Volume 11 - 2026, Issue 5 - May


Google Scholar : https://tinyurl.com/3j7dsvex

Scribd : https://tinyurl.com/4yjfkcnt

DOI : https://doi.org/10.38124/ijisrt/26May1538

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Abstract : Introduction: Omphalocele is a congenital malformation of the anterior abdominal wall characterized by herniation of abdominal contents through the umbilical ring, covered by a membranous sac. Its incidence is estimated at 1 per 4,000 to 7,000 live births. Although it is often detected on prenatal ultrasound, it may exceptionally be discovered at birth.  Case Report: We report the case of a male newborn weighing 3,560 g, born at 38 weeks and 6 days of amenorrhea to a 37-year-old multigravid woman (G4P3) with no notable personal or family history and no known consanguinity. The pregnancy had been monitored by a general practitioner, with normal reported fetal biometry. Delivery was vaginal, with an Apgar score of 10. Clinical examination at birth revealed a large omphalocele with an intact sac containing bowel loops.  Conclusion: This case illustrates the importance of rigorous prenatal ultrasound surveillance and immediate multidisciplinary management in the delivery room. The incidental discovery of an omphalocele at birth, without antenatal diagnosis, highlights the limitations of obstetric follow-up performed exclusively in primary care.

Keywords : Omphalocele; Abdominal Wall Defect; Term Neonate; Missed Antenatal Diagnosis; Pediatric Surgery Mots-Clés: Omphalocèle; Malformation De La Paroi Abdominale; Nouveau-Né À Terme; Diagnostic Anténatal Manqué; Chirurgie Pédiatrique.

References :

  1. Ledbetter DJ. Gastroschisis and omphalocele. Surg Clin North Am. 2006;86(2):249-260.
  2. Islam S. Advances in surgery for abdominal wall defects: gastroschisis and omphalocele. Clin Perinatol. 2012;39(2):375-386.
  3. Stoll C, Alembik Y, Dott B, Roth MP. Omphalocele and gastroschisis and associated malformations. Am J Med Genet A.2008;146A(10):1280-1285.
  4. Fratelli N, Papageorghiou AT, Bhide A, et al. Outcome of antenatally diagnosed abdominal wall defects. Ultrasound Obstet Gynecol. 2007;30(3):266-270.
  5. Baerg J, Kaban G, Tonita J, Pahwa P, Reed M. Gastroschisis: a sixteen-year review. J Pediatr Surg. 2003;38(5):771-774.
  6. Marshall J, Salemi JL, Tanner JP, et al. Prevalence, correlates, and outcomes of omphalocele in the United States, 1995-2005. Obstet Gynecol. 2015;126(2):284-293.
  7. Cohen-Overbeek TE, Tong WH, Hatzmann TR, et al. Omphalocele: comparison of outcome following prenatal or postnatal diagnosis. Ultrasound Obstet Gynecol. 2010;36(6):687-692. Conflict of interest statement: The authors declare no conflicts of interest.Informed consent: Obtained from the family for publication of clinical and photographic data.

Introduction: Omphalocele is a congenital malformation of the anterior abdominal wall characterized by herniation of abdominal contents through the umbilical ring, covered by a membranous sac. Its incidence is estimated at 1 per 4,000 to 7,000 live births. Although it is often detected on prenatal ultrasound, it may exceptionally be discovered at birth.  Case Report: We report the case of a male newborn weighing 3,560 g, born at 38 weeks and 6 days of amenorrhea to a 37-year-old multigravid woman (G4P3) with no notable personal or family history and no known consanguinity. The pregnancy had been monitored by a general practitioner, with normal reported fetal biometry. Delivery was vaginal, with an Apgar score of 10. Clinical examination at birth revealed a large omphalocele with an intact sac containing bowel loops.  Conclusion: This case illustrates the importance of rigorous prenatal ultrasound surveillance and immediate multidisciplinary management in the delivery room. The incidental discovery of an omphalocele at birth, without antenatal diagnosis, highlights the limitations of obstetric follow-up performed exclusively in primary care.

Keywords : Omphalocele; Abdominal Wall Defect; Term Neonate; Missed Antenatal Diagnosis; Pediatric Surgery Mots-Clés: Omphalocèle; Malformation De La Paroi Abdominale; Nouveau-Né À Terme; Diagnostic Anténatal Manqué; Chirurgie Pédiatrique.

Paper Submission Last Date
30 - June - 2026

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