Service de Gynécologie obstétrique I -CHU Hassan II Fès Maroc

Case report

A 23-year-old woman (G1P1) with unremarkable prenatal history was sent to our unit for management of a fetal malformation at 28 weeks of pregnancy. Ultrasonography revealed an omphalocele containing the liver and intestinal loops. The evolution was marked by a premature birth at 31 weeks of a newborn of 1300 gr with an omphalocele who died on day 1 of life from respiratory insufficiency.

Definition: An omphalocele is a birth defect in which an intestine or other abdominal organs are outside of the body because of a defect of the anterior abdominal wall. The content is covered by only a thin membrane and can be easily seen. [1]

Pathogenesis: Many theories have also been suggested to explain the development of omphalocele. These include failure of intestinal migration into the abdomen by 10 to 12 weeks of embryologic development, failure of central migration of the lateral body folds of mesoderm, and persistence of a body stalk beyond 12 weeks' gestation.  [2]

Diagnosis and sonographic findings: omphalocele can be diagnosed by ultrasound in the late first trimester. This is due to the physiological herniation of the bowel into the umbilical cord during early fetal development.

Differential diagnosis: Differential diagnoses include gastroschisis, pseudo omphalocele, physiological gut herniation, limb-body wall complex and umbilical hernia.

Associated anomalies: omphalocele can be associated with congenital abnormalities like congenital heart disease; neural tube defects, and chromosomal abnormalities. [4]

Prognosis: the prognosis depends on the size of the defect, the presence of other abnormalities and the associated complications. [3]

Management:  The management of omphalocele can only be finalised after birth and the medical team have assessed the baby for other associated abnormalities. Surgery is more challenging if the omphalocele is large.

References

1. Agarwal R. Prenatal diagnosis of anerior abdominal wall defects: pictorial essay. Ind J Radiol Imag 2005;3:361-72.Walther AE, Nathan JD. Newborn abdominal wall defects. In: Wylie R, Hyams JS, Kay M, eds. Pediatric Gastrointestinal and Liver Disease. 5th ed. Philadelphia, PA: Elsevier; 2016: chap 58.
2. Snyder CL. Current management of umbilical abnormalities and related anomalies. Semin Pediatr Surg. 2007;16:41-49
3. Emanuel PG, Garcia GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiographics. 1995;15 (3): 517-30.prenatal and postnatal diagnosis. Ultrasound Obstet Gynecol 2010; 36: 687-692.
4. Stoll C, Alembik Y, Dott B, Roth MP. Omphalocele and gastroschisis and associated malformations. Am J Med Genet A. 2008 May 15;146A(10):1280-5.