Sonographic and Clinical Analysis of Giant Omphalocele and Associated Anomalies
Faculty Mentor
Dr. Myka Bussey-Campbell
Location
Savannah Ballroom
Type of Research
Proposed
Session Format
Poster Presentation
College
Waters College of Health Professions
Department
Clinical Sciences
Abstract
An omphalocele is a congenital midline abdominal wall defect characterized by the herniation of intra-abdominal contents into the base of the umbilical cord, covered by a peritoneal-amniotic membrane. Unlike gastroschisis, it carries a significant association with chromosomal aneuploidies (specifically Trisomy 13 and 18) and syndromic conditions such as Beckwith-Wiedemann syndrome. This case study is of a 32-year-old primigravida referred at 19 weeks gestation following an abnormal anatomical survey. Targeted sonographic evaluation revealed a central abdominal mass measuring 5.5 cm in diameter. The case illustrates the critical role of prenatal ultrasound in distinguishing these pathologies and guiding multidisciplinary management. Key diagnostic features included the presence of a limiting echogenic membrane and the insertion of the umbilical cord at the apex of the defect, confirming the diagnosis of omphalocele. This presentation further explores the necessity of ancillary testing, including amniocentesis for karyotyping and microarray, to assess for genetic comorbidities. Prenatal ultrasound remains the gold standard for the early detection and characterization of ventral wall defects. Accurate identification of the defect’s contents and strict differentiation from gastroschisis allows for appropriate genetic counseling, tertiary care delivery planning, and prepared staged surgical repair.
Keywords: Giant Omphalocele, Prenatal Ultrasound, Ventral Wall Defect, Fetal Anomalies, Pulmonary Hypoplasia
Program Description
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Start Date
4-21-2026 1:30 PM
End Date
4-21-2026 3:30 PM
Recommended Citation
Akins, Cason, "Sonographic and Clinical Analysis of Giant Omphalocele and Associated Anomalies" (2026). GS4 Student Scholars Symposium. 55.
https://digitalcommons.georgiasouthern.edu/research_symposium/2026A/2026A/55
Sonographic and Clinical Analysis of Giant Omphalocele and Associated Anomalies
Savannah Ballroom
An omphalocele is a congenital midline abdominal wall defect characterized by the herniation of intra-abdominal contents into the base of the umbilical cord, covered by a peritoneal-amniotic membrane. Unlike gastroschisis, it carries a significant association with chromosomal aneuploidies (specifically Trisomy 13 and 18) and syndromic conditions such as Beckwith-Wiedemann syndrome. This case study is of a 32-year-old primigravida referred at 19 weeks gestation following an abnormal anatomical survey. Targeted sonographic evaluation revealed a central abdominal mass measuring 5.5 cm in diameter. The case illustrates the critical role of prenatal ultrasound in distinguishing these pathologies and guiding multidisciplinary management. Key diagnostic features included the presence of a limiting echogenic membrane and the insertion of the umbilical cord at the apex of the defect, confirming the diagnosis of omphalocele. This presentation further explores the necessity of ancillary testing, including amniocentesis for karyotyping and microarray, to assess for genetic comorbidities. Prenatal ultrasound remains the gold standard for the early detection and characterization of ventral wall defects. Accurate identification of the defect’s contents and strict differentiation from gastroschisis allows for appropriate genetic counseling, tertiary care delivery planning, and prepared staged surgical repair.
Keywords: Giant Omphalocele, Prenatal Ultrasound, Ventral Wall Defect, Fetal Anomalies, Pulmonary Hypoplasia
