Abdominal Wall Defect Case Study | The Children's Hospital of Philadelphia

Center for Fetal Diagnosis and Treatment

Case Study: Abdominal Wall Defect

Maternal History

A 31-year-old G4P3003 was referred for evaluation due to the finding of an omphalocele by routine second trimester screening ultrasound. The pregnancy course had been uncomplicated up to this point, including normal prenatal labs. Serum screening had been declined by the patient. Her obstetric history is significant for three full-term vaginal deliveries without complication. The remainder of her history and the family history is unremarkable. No environmental exposures were elicited.


Comprehensive evaluation performed at 25-weeks gestation included detailed ultrasound, echocardiography and ultra rapid fetal MRI. Biometrics were appropriate for gestational age. A large omphalocele containing liver, gallbladder and bowel was seen. Gender could not be determined as the finding in the ultrasound image distorted the visualization between the fetal legs. The pubic bones were splayed and no bladder could be identified. Further imaging of the fetal spine is seen in the MRI demonstrating a neural tube defect. The left kidney could not be visualized and amniotic fluid was normal. A two-vessel umbilical cord was noted. Fetal echocardiogram was normal.

Pregnancy and Delivery Course

The patient had routine prenatal course. She was delivered by cesarean at 36-weeks gestation after presenting with spontaneous labor. The neonate, seen in the picture, was vigorous at delivery with normal cord gases and weighed 2.6 kg. Neonatology was present for the delivery to stabilize the patient. Gender could not be determined at delivery and the neonate was admitted to the newborn intensive care nursery for ongoing care.


  1. Based on the constellation of findings, what is the likely diagnosis?
  2. What is the significance of the finding in Ultrasound Image 1?
  3. What are associated anomalies seen with this disorder?
  4. Is a karyotype indicated in this situation?
  5. How do you counsel the parents regarding recurrence risk?
  6. What is the long-term prognosis for these children? 

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Case Study Images


Ultrasound Image
Transverse View of Lower Fetal Pelvis and Genital Region


MRI Image
Demonstrating the Neural Tube Defect with a Small Sac at the Tip of the Spine © CHOP/CFDT


Neonatal Anatomy © CHOP/CFDT