What are pediatric omphalocele and gastroschisis (abdominal wall defects)?

Updated: Nov 05, 2019
  • Author: James G Glasser, MD, MA, FACS; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
  • Print
Answer

Ventral abdominal body wall defects comprise a group of congenital malformations that includes gastroschisis and omphalocele, which are relatively common, and ectopia cordis, bladder exstrophy, and cloacal exstrophy, which are extremely rare. Gastroschisis is the congenital anomaly most frequently encountered by pediatric surgeons, and the incidence is rising. The incidence of omphaloceles, however, has remained relatively constant. [1]

The reported incidence of abdominal wall defects in the United States is estimated to be the following:

  • Gastroschisis: 1 case in 2,229 births (about 1,871 infants each year) [2]

  • Omphalocele: 1 case in 5,386 births (about 775 babies annually) [2]

  • Bladder exstrophy: 1 case in 50,000 births [3]

  • Ectopia cordis: 1 case in 125,000 births [4]

  • Cloacal exstrophy: 1 case in 10,000 - 70,000 to 1 case in 200,000 - 400,000 births [5]

There is also anatomic variation regarding the size and location of the abdominal wall defect, as well as a spectrum of associated anomalies:

  • Gastroschisis: Small paraumbilical defect, associated intestinal abnormalities
  • Omphalocele: Central umbilical defect of varying size; omphaloceles may be syndromic (genetic) or have associated system abnormalities
  • Epigastric omphalocele (pentalogy): Associated diaphragmatic, sternal, pericardial, and heart abnormalities
  • Bladder exstrophy: Lower abdominal wall and pelvis, associated genitourinary abnormalities
  • Cloacal exstrophy: Bladder exstrophy plus an imperforate anus

Furthermore, within each category, there is a spectrum of severity with regard to the initial problem and the anticipated secondary problems.

An infant with gastroschisis may have intestinal dysfunction. Prolonged exposure to amniotic fluid may cause mucosal or muscularis injury, although the etiology of bowel injury in gastroschisis is unclear. If noxious elements in the amniotic fluid were responsible, amnioexchange should be therapeutic. Unfortunately, the anticipated benefit has not occurred. [6] Or, potentially or a small abdominal wall defect may constrict the mesentery, causing ischemic injury or actual necrosis.

Intestinal obstruction, from inflammatory adhesions or from Ladd bands, a component of malrotation, may complicate the infant's recovery. Malrotation occurs in the setting of developmental anomalies, in which the intestine fails to return to the nascent abdominal cavity, such as congenital diaphragmatic hernia as well as abdominal wall defects. Midgut volvulus, the most feared complication of malrotation, is theoretically possible but unlikely because of postsurgical adhesions. The appendix is abnormally located in the upper abdomen in patients with malrotation; however, the availability of computed tomography (CT) scanning to evaluate the abdomen makes this less of an issue. Children with gastroschisis may suffer from gastroesophageal reflux; the prevalence of Hirschsprung disease is also increased.

See the Medscape Drugs & Diseases articles Omphalocele Imaging and Gastroschisis Imaging, as well as information from the Children's Hospital of Philadelphia on Omphalocele and Gastroschisis.

See also the Critical Images slideshow 11 Abdominal Emergencies in Infants.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!