Faculty Mentor

Dr. Myka Bussey-Campbell

Faculty Mentor Email Address

mcampbell@georgiasouthern.edu

Sonographic and Clinical Analysis of Giant Omphalocele and Associated Anomalies

Location

Savannah Ballroom

Type of Research

Proposed

I am a... (Select all that apply)

Undergraduate student (not associated with COUR or Honors)

Session Format

Poster Presentation

Select Your Campus

Armstrong Campus

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

.

Author Rights: Apply an Embargo

2-24-2026

Presentation Type and Release Option

Event

Start Date

4-21-2026 1:30 PM

End Date

4-21-2026 3:30 PM

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Apr 21st, 1:30 PM Apr 21st, 3:30 PM

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