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Pediatric Omphalocele and Gastroschisis Clinical Presentation

  • Author: James G Glasser, MD, MA, FACS; Chief Editor: Ted Rosenkrantz, MD  more...
 
Updated: Apr 28, 2015
 

History

Infants with gastroschisis and omphalocele can be identified using prenatal ultrasonography.[18] Defects in other organ systems may also be diagnosed, and chromosomal abnormalities may be discovered by amniocentesis. See Workup.

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Physical

Omphalocele

In an omphalocele, the diameter of the abdominal wall defect is 4-12 cm; it may be centrally located or in the epigastrium or the hypogastrium.

With a large omphalocele, dystocia may occur and result in injury to the baby's liver.

The omphalocele sac is ruptured in 10-20% of cases; rupture may occur in utero or during delivery.

Beckwith-Wiedemann syndrome features are as follows (see the image below):

  • Omphalocele (generally small)
  • Macroglossia and coarse, rounded facial features
  • Visceromegaly with hyperplasia of the pancreatic islet cells causing neonatal hypoglycemia, which may be severe
  • Genitourinary abnormalities
  • Increased incidence of Wilms tumors, liver tumors (hepatoblastoma), and adrenocortical neoplasms; surveillance by ultrasonography is indicated
    Note the enlarged tongue in this baby with Beckwit Note the enlarged tongue in this baby with Beckwith-Wiedemann syndrome.

The components of the pentalogy of Cantrell are as follows (see the image below):

  • Epigastric omphalocele
  • Cleft sternum
  • Anterior (retrosternal) diaphragmatic hernia of Morgagni
  • Absent pericardium
  • Cardiac defects (ectopia cordis and ventricular septal defects)
    Baby with pentalogy of Cantrell. Baby with pentalogy of Cantrell.

Giant omphalocele features are as follows:

  • Large, centrally located, abdominal wall defect
  • Ectopic liver, located outside of the abdominal cavity, within the omphalocele sac
  • Small, undeveloped abdominal and thoracic cavities
  • Restrictive lung disease and pulmonary hypoplasia are associated with the hypoplastic thoracic cavity
  • Operative closure is best accomplished in stages to avoid excessive intra-abdominal pressure [19]

Gastroschisis

The abdominal wall defect generally is uniform in size (≤5 cm) and constant in location (right of the umbilical cord).

The amount of inflammation of the extruded intestine varies. An inflammatory peel congealing the extruded intestines may or may not be present. Inflammation may so distort the appearance of the bowel that it is impossible to determine the anatomy or even whether an atresia is present. See the images below.

Inflammatory distortion of the extruded intestine. Inflammatory distortion of the extruded intestine. There appears to be an associated atresia (the dilated intestine), but this resolved in concert with resolution of the inflammation.
Baby with gastroschisis and colon atresia, with th Baby with gastroschisis and colon atresia, with the proximal end open. An ostomy is brought out of the silo.
The sac is removed and the abdominal wall defect i The sac is removed and the abdominal wall defect is closed around the in utero colostomy.

The caliber of the intestine and the distribution of meconium, and whether it can be evacuated through the anus, and whether succus entericus can be milked into the stomach and suctioned by anesthesia, are all factors that determine whether reduction of the extruded intestine and closure of the abdominal wall defect can be accomplished primarily, or whether a "silo" must be used.

When primary closure of the abdominal wall defect is not possible, a silo is created to contain the intestine until the inflammation has resolved and it softens and becomes pliable, usually within 1 week. Reduction can then be accomplished. Correction of intestinal atresia by either an anastomosis or an enterostomy is best delayed until closure of the abdominal cavity has been achieved.

Intestinal dysfunction, delaying the onset of feedings, may take 4-6 weeks to resolve.

When gastroschisis is identified antenatally, serial ultrasonography is performed to identify impending threats to the intestine. Concomitantly, amniocentesis is used to monitor lung maturity and determine when to induce labor.[20, 21, 22, 23, 24]

Cloacal exstrophy

Characteristics of cloacal exstrophy include the following:

  • Bladder exstrophy with a central strip—plate of cecum—and prolapsed ileum
  • The presence or absence of a duplicated colon and appendix, colonic atresia, or imperforate anus
  • Myelodysplasia (tethered cord, myelomeningocele, hydromyelia, diastematomyelia)
  • Fetal uropathy with oligohydramnios and pulmonary hypoplasia
  • Compression abnormalities: Indented thorax, malformed digits, talipes (club foot), bowed limbs, and dislocated hips
  • Low-set ears

See the images below.

Baby with cloacal exstrophy. Baby with cloacal exstrophy.
Note the bifid genitalia in this baby with cloacal Note the bifid genitalia in this baby with cloacal exstrophy.
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Causes

Folic acid deficiency, hypoxia, and salicylates cause rats to develop abdominal wall defects, but the clinical significance of these experiments is conjectural.

Elevation of maternal serum alpha-fetoprotein (MSAFP) is associated with omphalocele and gastroschisis. An elevated MSAFP warrants ultrasonography to determine if structural abnormalities are present in the fetus. If the study is suspicious for an omphalocele, amniocentesis is indicated to determine any associated genetic abnormality.

Polyhydramnios occurs in association with intestinal atresia, which may complicate gastroschisis. If polyhydramnios is identified by fetal ultrasonography, the mother should be referred to a tertiary care facility for optimal care of her newborn.

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Contributor Information and Disclosures
Author

James G Glasser, MD, MA, FACS Associate Professor of Surgery and Pediatrics, University of South Alabama College of Medicine; Attending Staff, USA Children's and Women's Hospital

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

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

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.

Additional Contributors

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

David N Sheftel, MD, 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.

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Baby with an intact omphalocele.
Baby with an umbilical cord hernia.
Baby with gastroschisis.
Baby with a ruptured omphalocele.
Baby with gastroschisis and associated intestinal atresia.
Baby with gastroschisis and colon atresia. 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.
Note the enlarged tongue in this baby with Beckwith-Wiedemann syndrome.
Baby with pentalogy of Cantrell.
Silo closure of a baby with gastroschisis.
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.
Giant omphalocele treated with topical agents for several weeks. The omphalocele sac will absorb, leaving granulation tissue that gradually epithelializes.
The omphalocele sac was adherent to the protuberant liver. It was covered with Gore-Tex so that gradual reduction could be effected.
The Gore-Tex sheet is imbricated, gradually reducing the liver into the abdominal cavity: the rectus muscles are pulled over the liver.
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.
Split-thickness skin grafts were applied to the flank wounds resulting from mobilization of the bipedicle flaps.
Baby with prune-belly syndrome.
Note the laxity of the abdominal wall in this baby with prune-belly syndrome.
Baby with cloacal exstrophy.
Note the bifid genitalia in this baby with cloacal exstrophy.
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.
Closure of the bladder exstrophy.
Baby with bladder exstrophy and epispadias; note the appearance of the bladder mucosa, indicating chronic inflammation.
Another view demonstrating the epispadias shown in the previous image.
Baby with isolated epispadias.
Operative finding: patent omphalomesenteric duct, which is being excised.
Closure of a giant omphalocele with an AlloDerm patch.
Two months after implantation: epithelialization of the AlloDerm patch.
Eight months after implantation: epithelization is nearly complete, but a huge ventral hernia has developed.
Baby with a giant omphalocele, in which the liver assumes an ectopic position in the epigastrium.
Gastroschisis complicated by jejunal atresia and loss of the entire distal small bowel = the grey tissue.
Following lysis of adhesions, tubularization of the viable, mesenteric portion of the proximal jejunum, the eviscerated viscera are reduced and the gastroschisis abdominal wall defect closed.
Recent radiograph showing the intestine following multiple serial transverse enteroplasty (STEP) procedures.
Baby with gastroschisis and colon atresia, with the proximal end open. An ostomy is brought out of the silo.
Inflammatory distortion of the extruded intestine. There appears to be an associated atresia (the dilated intestine), but this resolved in concert with resolution of the inflammation.
A silo is fashioned from Silon sheets, in case reduction of the extruded intestine cannot be achieved without unduly elevating the intra-abdominal pressure.
The sac is removed and the abdominal wall defect is closed around the in utero colostomy.
Baby with a small omphalocele sac whose contents were liver and gall bladder.
The omphalocele sac contains liver and gall bladder.
Completed repair; simulating an umbilicus.
Successful repair; the child, approximately age 30 months in the photo, whose clinical course is described above.
Appearance of the dilated bowel prior to performing the serial transverse enteroplasty (STEP) procedure.
The intestine as it appeared after the serial transverse enteroplasty (STEP) procedure.
The intestine as it appeared after the serial transverse enteroplasty (STEP) procedure.
Omphalomesenteric duct remnant presenting as an "umbilical granuloma."
Table 1. Incidence rates for gastroschisis and/or omphaloceles in various regions and time periods. [1, 6, 7, 8]
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
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