Diagnostic Considerations

The presence of an abdominal wall defect is immediately obvious; however, an exactitude in diagnosis may prove to be more challenging, and treatment may be exceedingly complex and involve multiple specialists.

Omphalomesenteric duct remnants usually occur in babies with umbilical cord hernias, in which the abdominal wall defect is less than 4 cm.

The association of chromosomal defects with omphalocele varies between 10% and 50%. Trisomy 12, 13, 15, 18, and 21, as well as Beckwith-Wiedemann syndrome are the most frequently encountered genetic abnormalities.

Genetic abnormalities occur infrequently in babies with gastroschisis; however, these infants must contend with malabsorption, intestinal dysmotility, gastroesophageal reflux disease and, occasionally, Hirschsprung disease.

With the increased availability of ultrasonography, a prenatal diagnosis is made more frequently.

When an omphalocele is diagnosed, further workup is indicated to determine whether a genetic abnormality is present.

When gastroschisis is diagnosed, serial ultrasonography should be performed to detect signs of intestinal injury, including decreased peristalsis or bowel distention.

Educate parents about their infant's anomaly before delivery. Optimal management requires that the obstetrician anticipates the needs of the baby and ensures that delivery occurs in a facility where neonatology, pediatric anesthesia, and pediatric surgery consultation is available.

Workup

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Media Gallery

Pediatric omphalocele and gastroschisis (abdominal wall defects). An intact omphalocele in an infant is shown.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This photograph depicts an umbilical cord hernia in an infant.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This intraoperative photograph reveals and infant with gastroschisis.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This intraoperative image reveals a ruptured omphalocele in an infant.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Gastroschisis and associated intestinal atresia is shown in an infant.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This intraoperative image reveals gastroschisis and colon atresia in an infant. The bulbous proximal end of the atretic colon is excised, and a colostomy is created at the abdominal wall defect. An anastomosis of the proximal, dilated colon to the distal microcolon (in view of its small caliber) would not function properly. The colostomy can be closed 4-6 weeks later.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Note the enlarged tongue in this infant with Beckwith-Wiedemann syndrome.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant has pentalogy of Cantrell: an epigastric omphalocele, cleft sternum, anterior (retrosternal) diaphragmatic hernia of Morgagni, absent pericardium, and cardiac defects (ectopia cordis, ventricular septal defects).
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image demonstrates silo closure in an infant with gastroschisis.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Silon sheets are pulled over the omphalocele sac, elevating the rectus muscles, and, because of their attachment to the costal arch, expanding the thoracic cavity. The Silon sheets are removed and replaced by a permanent Gore-Tex patch that is covered by skin flaps.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant has a giant omphalocele that was treated with topical agents for several weeks. The omphalocele sac will absorb, leaving granulation tissue that gradually epithelializes.
Pediatric omphalocele and gastroschisis (abdominal wall defects). The omphalocele sac was adherent to the protuberant liver in an infant. It was covered with Gore-Tex so that gradual reduction could be effected.
Pediatric omphalocele and gastroschisis (abdominal wall defects). The Gore-Tex sheet is imbricated, gradually reducing the liver into the abdominal cavity: The rectus muscles are pulled over the liver. The skin and subcutaneous tissues become adherent to the Gortex; the next step is to freshen the wound margins (excise the skin edge and the exposed Gortex) and suture the composite layers together.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Final skin closure of the giant omphalocele was delayed because the baby developed respiratory distress. Unfortunately, the patch became infected and was removed. Later, bipedicled flank flaps were used to close the giant omphalocele, but reduction was lost.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Split-thickness skin grafts were applied to the flank wounds resulting from mobilization of the bipedicle flaps.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant has prune-belly syndrome.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Note the laxity of the abdominal wall in this infant with prune-belly syndrome.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This photograph shows cloacal exstrophy in an infant.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Note the bifid genitalia in this infant with cloacal exstrophy.
Pediatric omphalocele and gastroschisis (abdominal wall defects). In the repair of cloacal exstrophy, the cecal plate in the middle of the bifid bladder is excised and used to create an ostomy, and the bladder halves are approximated.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Closure of the bladder exstrophy is shown.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Bladder exstrophy and epispadias is shown in an infant. Note the appearance of the bladder mucosa, indicating chronic inflammation.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This is another view demonstrating the epispadias shown in the previous image.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image reveals isolated epispadias in an infant.
Pediatric omphalocele and gastroschisis (abdominal wall defects). An intraoperative finding is a patent omphalomesenteric duct, which is being excised.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Closure of a giant omphalocele with an Alloderm patch is shown.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image was obtained 2 months after implantation, revealing epithelialization of the Alloderm patch.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Eight months after implantation, epithelialization is nearly complete, but a huge ventral hernia has developed.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image shows a giant omphalocele in an infant, in which the liver assumes an ectopic position in the epigastrium.
Pediatric omphalocele and gastroschisis (abdominal wall defects). In this infant, gastroschisis has been complicated by jejunal atresia and loss of the entire distal small bowel (the grey tissue).
Pediatric omphalocele and gastroschisis (abdominal wall defects). Following lysis of adhesions and tubularization of the viable, mesenteric portion of the proximal jejunum, the eviscerated viscera are reduced and the gastroschisis abdominal wall defect is closed.
Pediatric omphalocele and gastroschisis (abdominal wall defects). The radiograph shows the intestine following multiple serial transverse enteroplasty (STEP) procedures.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant has gastroschisis and colon atresia, with the proximal end open. An ostomy is brought out of the silo.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Inflammatory distortion of the extruded intestine is shown. There appears to be an associated atresia (the dilated intestine), but the dilatation resolved in concert with resolution of the inflammation.
Pediatric omphalocele and gastroschisis (abdominal wall defects). A silo is fashioned from Silon sheets, in case reduction of the extruded intestine cannot be achieved without unduly elevating the intra-abdominal pressure.
Pediatric omphalocele and gastroschisis (abdominal wall defects). The sac is removed, and the abdominal wall defect is closed around the in utero colostomy.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This infant had a small omphalocele sac whose contents were liver and gall bladder.
Pediatric omphalocele and gastroschisis (abdominal wall defects). The omphalocele sac contains liver and gall bladder.
Pediatric omphalocele and gastroschisis (abdominal wall defects). A completed repair is shown, simulating an umbilicus.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This child, approximately age 30 months in the photo, had a successful repair. Her clinical course is described above.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image shows the appearance of the dilated bowel prior to performing the serial transverse enteroplasty (STEP) procedure.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This is the intestine as it appeared after the serial transverse enteroplasty (STEP) procedure.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This is the intestine as it appeared after the serial transverse enteroplasty (STEP) procedure.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This image shows an omphalomesenteric duct remnant presenting as an "umbilical granuloma."
Pediatric omphalocele and gastroschisis (abdominal wall defects). Rather than pushing the extruded viscera into the diminutive abdominal cavity, traction is applied to the abdominal wall and skin flaps. This stimulates growth and facilitates reduction of the extruded visceral and ultimate closure of the abdominal wall defect. Courtesy of Russell Jennings, MD, Boston Children's Hospital.
Pediatric omphalocele and gastroschisis (abdominal wall defects). This photograph depicts progress in reducing the extruded viscera utilizing Dr Jennings's innovative technique. Image courtesy of Russell Jennings, MD, Boston Children's Hospital.
Pediatric omphalocele and gastroschisis (abdominal wall defects). Reduction of the extruded viscera is gradually achieved. Courtesy of Russell Jennings, MD, Boston Children's Hospital.

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Author

James Goodwin Glasser, MD, MA, FACS Pediatric Surgeon, Locum Tenens Pediatric Surgeon, Grand Strand Medical Center

James Goodwin Glasser, MD, MA, FACS is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Christian Medical and Dental Associations

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Brian S Carter, MD, FAAP Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Attending Physician, Division of Neonatology, Children's Mercy Hospital and Clinics; Faculty, Children's Mercy Bioethics Center

Brian S Carter, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Hospice and Palliative Medicine, American Academy of Pediatrics, American Pediatric Society, American Society for Bioethics and Humanities, American Society of Law, Medicine & Ethics, Society for Pediatric Research, National Hospice and Palliative Care Organization

Disclosure: Nothing to disclose.

Chief Editor

Dharmendra J Nimavat, MD, FAAP Associate Professor of Clinical Pediatrics, Department of Pediatrics, Division of Neonatology, Southern Illinois University School of Medicine; Staff Neonatologist, Clinical Director, NICU Regional Perinatal Center, HSHS St John's Children's Hospital

Dharmendra J Nimavat, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association of Physicians of Indian Origin

Disclosure: Nothing to disclose.

Additional Contributors

David N Sheftel, MD Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and SciencE

David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ted Rosenkrantz, MD Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine

Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Sections Pediatric Omphalocele and Gastroschisis (Abdominal Wall Defects)
Overview
Presentation
DDx
Workup
Treatment
Questions & Answers
Media Gallery
Tables
References

Country	Time Period / Incidence	Time Period / Incidence
Japan	1975-1980	1996-1997
Gastroschisis	1/77,000	1/20,000
Omphalocele	1/30,000	1/27,000

England and Wales	1987	1991
Gastroschisis	1/10,000	2/10,000
Omphalocele	1/10,000	1/12,500

Galveston, Texas	1983	2002
Gastroschisis	1/4000	1/900

England and Wales	1995	2005
Gastroschisis	1/7500	1/2500

Pediatric Omphalocele and Gastroschisis (Abdominal Wall Defects) Differential Diagnoses

Diagnostic Considerations

References

Tables

Contributor Information and Disclosures

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