Synonyms: ventral hernia
Exomphalos literally translated from the Greek means 'outside the navel'. It is also called an omphalocele. It is a congenital abnormality in which the contents of the abdomen herniate into the umbilical cord through the umbilical ring. The viscera, which often includes the liver, is covered by a thin membrane consisting of peritoneum and amnion.
Gastroschisis means 'stomach cleft'. It is a congenital defect of the abdominal wall, usually to the right of the umbilical cord insertion. Abdominal contents herniate into the amniotic sac, usually just involving the small intestine but sometimes also the stomach, colon and ovaries. Unlike exomphalos, there is no covering membrane.
Exomphalos and gastroschisis are the most common congenital abnormalities encountered by paediatric surgeons.
The incidence of exomphalos has increased slightly over the years and is approximately 1-2.5 in 5,000 births. Epidemiological studies have found an association with increasing age, and its link with genetic factors is evident from twin studies and from the high incidence in consecutive children and different generations of the same family.
One study found that 50% of babies diagnosed with exomphalos as the only presenting condition had genetic abnormalities on closer study and the authors recommended a search for such defects in all babies with this presentation.
On the other hand, the incidence of gastroschisis has increased markedly in the past 25 years and is now to a level of 4-5 per 10,000 live births. The increase in prevalence has been described as a 'pandemic' and raises interesting possibilities about interaction between genes and environment.
Both exomphalos and gastroschisis have been linked to conditions affecting placental insufficiency, including maternal illness and infection, drug dependency and smoking. One study also found that ibuprofen during early pregnancy was a moderate risk factor for gastroschisis. Alcohol was a moderate risk factor for gastroschisis in early pregnancy and for omphalocele in the first trimester.
Exomphalos and gastroschisis may both present prenatally as a rise in alpha-fetoprotein in the second trimester or as an abnormality on ultrasound scan.
Exomphalos results in a 4-12 cm abdominal wall defect which may be central, epigastric or hypogastric. A large defect may be associated with underdevelopment of the abdominal and thoracic cavities. Associated congenital defects may be evident (see 'Differential diagnosis', below). One study found that 74.4% of patients with exomphalos had associated defects, as opposed to 16.6% of patients with gastroschisis.
Gastroschisis presents as an opening usually less than 5 cm in length, to the right of the umbilical cord. There is much less variation in size than there is in exomphalos. Other abnormalities are not usually present.
Exomphalos and gastroschisis need to be differentiated from each other and from other causes of an abdominal wall mass. Exomphalos is more centrally placed than gastroschisis, is covered with a membrane and is more likely to be associated with other congenital defects. The hernial sac in the two conditions also feels different. An exomphalic sac feels firm and may contain liver and tightly packed bowel, whereas in gastroschisis the sac contains only free loops of bowel and feels softer.
Other causes of abdominal wall mass include:
- Physiological bowel herniation. This occurs at 10-13 weeks' gestation and may be detected on ultrasound scan. It can be differentiated from exomphalos, as a scan at 15 weeks will show that it has disappeared. A large defect which contains liver indicates exomphalos at any stage.
- Umbilical hernia. These are frequent in premature infants. An ultrasound scan will help to diagnose them.
- Amniotic band syndrome. This is a common cause of abdominal wall defects. This starts with an accidental break in the inner amniotic membrane which results in the fetus being exposed to fibrous amniotic bands. The appearance may be similar to gastroschisis but a scan may demonstrate the atypical location of the defect and contiguity with amniotic membranes.
- Extrophy of the urinary bladder. This appears on a scan, in female babies, as a mass superior to the fetal genitalia. Serial scans subsequently fail to demonstrate the presence of a bladder, and other abnormalities of the urogenital system may be detected.
- Limb-body wall complex. There is a severe and fatal anterior abdominal wall defect lateral to the umbilical cord insertion point. Other congenital defects involving the heart, limbs, brain and spine may also be detected.
- Multiple cavernous haemangiomas. These are most frequently found over the lower body. Other surface masses may be found that cause limb hypertrophy. This is called Klippel-Trénaunay syndrome.
- Pseudo-omphalocele. This term is used to describe a structurally normal abdomen which has been changed in shape by external pressure. This has been known to occur as a result of pressure from an ultrasound transducer. It can also occur in oligohydramnios and other causes of compression of the lower thoracic wall.
- Maternal serum alpha-fetoprotein (MSAFP) levels. These are raised in exomphalos and gastroschisis. The levels are higher in gastroschisis than in omphalocele.
- Karyotyping. The strong link between exomphalos and chromosomal abnormalities makes karyotyping an essential part of the investigation of this condition.
- Ultrasonography. This is the mainstay of diagnosis. Differentiation of exomphalos from gastroschisis and other causes of abdominal wall mass can be made from the size and site of the defect and any associated features (see 'Differential diagnosis', above).
- Magnetic resonance imaging. This may be helpful as an adjunct to ultrasonography, particularly in identifying abnormalities in the position of the liver.
- Other imaging. In infants with exomphalos, renal ultrasound, echocardiogram and plain films of the sacrum may be useful to exclude associated abnormalities.
- Amniocentesis is indicated if a raised alpha-fetoprotein is combined with appearances on ultrasound suggestive of exomphalos.
Exomphalos. This may be associated with a number of other congenital abnormalities, including:
- Thoraco-abdominal pentalogy of Cantrell. In this condition, exomphalos is associated with a cleft sternum, anterior diaphragmatic hernia, heart defects (ventricular septal defect and ectopia cordis) and an absent pericardium.
- Beckwith-Wiedemann syndrome. This is a congenital overgrowth condition characterised by exomphalos, macroglossia and gigantism.
- Genetic disorders. Trisomy 13, 18 and 21 can all be associated, highlighting the theory that some cases can have a genetic cause.
- Cloacal extrophy. This is a low exomphalos combined with bladder or cloacal extrophy. It may also be associated with other caudal anomalies, such as meningomyelocele, anal atresia and lower-limb anomalies.
- Dental malocclusion and musculoskeletal abnormalities. These can also occur.
Gastroschisis. Although associated abnormalities are less common in gastroschisis than exomphalos, they do occur in 7-30% of babies. Deformities include anencephaly, cleft lip and palate, ectopia cordis, atrial septal defect, diaphragmatic hernia, scoliosis, syndactyly and amniotic band. Intestinal atresia, malabsorption, atypical appendicitis, midgut volvulus, gastro-oesophageal reflux and Hirschsprung's disease also occur. A prenatal association with polyhydramnios has been noted and the latter finding on ultrasound should raise suspicion of the diagnosis.
- A baby with an intact sac is usually medically stable and may not require much in the way of preoperative medical care. If the sac ruptures, the medical treatment should be the same as for gastroschisis.
- Fluid intake should be maintained intravenously and the sac covered with non-adherent gauze.
- Replacement of the contents within the abdominal cavity and surgical closure are usually achieved without much difficulty with small-to-moderate sized sacs. Large exomphalos containing the liver may be more challenging.
- A recent literature review failed to come to a definitive conclusion about whether immediate closure or delayed repair was better.
- Closure of a giant omphalocele containing the liver is always challenging. A temporary artificial holding sac (a silo) may need to be constructed. Non-adhesive dressing and Saran® wrap are often used for this purpose. Closure of a large abdominal wall defect may require an artificial patch. A variety of rigid and non-rigid patches have been used. Non-rigid patches have the advantage of revascularisation from liver blood vessels and hence lower chance of sepsis; however, the incidence of subsequent secondary herniation is higher. One centre has had good results using natural biomaterials (dural and bovine patches). Optimal outcomes are obtained by utilising a multidisciplinary approach in both the antenatal and postnatal period.
Scheduled preterm delivery may improve postoperative outcome. Some patients can be managed by plastic closure (vigorous stretching of the abdominal wall with gradual decompression of the abdominal contents from a temporary silo into the abdomen). In the majority of patients, however, primary closure of the defect is the main objective. This may need to be delayed if the intestines are too inflamed and hence too enlarged to be replaced in the abdominal cavity. Too tight closure must be avoided in order to prevent respiratory problems and a reduction in cardiac output. Recent advances in surgery have resulted in improved cosmetic appearance.
The baby may furthermore require medical stabilisation before surgery. Respiratory distress may require gastric decompression and sometimes endotracheal intubation. Fluid loss must be corrected intravenously. The baby should be placed under a radiant heater to minimise heat loss. A broad-spectrum antibiotic should be administered to prevent infection.
Parenteral nutrition should be provided via a central venous line, the baby should be catheterised to measure urine output and digital examination should be performed to dilate the rectum.
The gastroschisis sac will require temporary protection in a reservoir (silo). Recently a spring-loaded silo has been used to good effect.
Unlike exomphalos, evidence derived from a review of the literature is more definitive in finding no difference between immediate repair and delayed closure, although immediate repair offers distinct theoretical advantages from the point of view of physiological status.
- Exomphalos can act as a metabolic drain affecting nitrogen balance and leading to failure to thrive.
- Poor nutritional status can result from the omphalocele acting as a metabolic drain.
- Hepatomegaly and cholestasis can result from prolonged parenteral feeding.
- Sepsis is highly likely if nutritional status is poor and this can be further complicated by respiratory dysfunction due to increased intrathoracic pressure. One study of gastroschisis patients found that Enterobacter spp. and Klebsiella spp. were the main pathogenic bacteria found in the gut. 20% of patients developed wound sepsis.
- A large exomphalos can require several surgical procedures to correct the defect. A prolonged stay in hospital is common and may be complicated by respiratory compromise requiring intubation.
- Trauma to the liver can be a late complication if it is sited beneath the area normally protected by the ribcage.
- The main complication of gastroschisis is intestinal atresia which can occur in 10-20% of patients. In this condition, the mucosa and submucosa of the intestine form a web or diaphragm, partly obstructing the lumen. Malabsorption syndromes are common sequelae.
- Postoperatively, several weeks of intestinal dysfunction are common and prolonged parenteral feeding may be required. Too tight closure of the defect can result in compromise of pulmonary function, cardiac output and blood circulation to the kidneys.
- Significant loss of viable bowel can result in short gut syndrome in both exomphalos and gastroschisis.
The prognosis of both conditions has improved considerably over 35 years, due to the improvement in ventilatory care and total parenteral nutrition. In gastroschisis in particular, such improvements have increased the incidence of primary closure, with lessening of the complications of delayed surgery, such as sepsis. In both conditions, the survival rate is now over 90%.
Significant morbidity, however, still occurs. In both conditions, intrauterine growth restriction and exteriorisation of the liver have been found to be factors predictive of poor outcome.
Prognosis depends on the size of the defect, whether any associated chromosomal abnormalities are present and whether complications such as pulmonary dysfunction or sepsis develop. Despite improvements in nutritional and respiratory support, mortality and morbidity still occurs. The mortality rate of uncomplicated exomphalos is 10% but rises to 100% in the presence of chromosomal abnormalities with severe associated defects.
The preoperative mortality rate is 17%. Most deaths are the result of sepsis, premature delivery or bowel infarction. The postoperative survival rate is 87-100%, although the length of hospital stay is prolonged. Poor prognosis is more likely with bowel-related complications, such as necrosis, atresia, severe dilation or thickening of the bowel, or difficulty in closing the defect.
The presence of other congenital anomalies adds to the morbidity. One study of 24 patients found that one-third experienced growth delay. Neurodevelopment was not delayed. One study found that the readmission rate of gastroschisis patients after initial discharge was 40%. 65% of readmissions occurred in the first year, the main indications being abdominal distension/pain and bowel obstruction.
Pre-pregnancy counselling should include advice about a healthy lifestyle with adequate nutrition and the avoidance of smoking and recreational drugs.
The role of folic acid supplementation, whilst established for the prevention of spina bifida, is less supported for the prevention of ventral hernias, although animal experiments suggest it may play a part.
Termination of pregnancy may be considered if there is a large exomphalos, especially if there are associated congenital abnormalities.
Further reading & references
- Sadler TW; The embryologic origin of ventral body wall defects. Semin Pediatr Surg. 2010 Aug;19(3):209-14.
- Mitanchez D, Walter-Nicolet E, Humblot A, et al; Neonatal care in patients with giant ompholocele: arduous management but J Pediatr Surg. 2010 Aug;45(8):1727-33.
- Payne NR, Pfleghaar K, Assel B, et al; Predicting the outcome of newborns with gastroschisis. J Pediatr Surg. 2009 May;44(5):918-23.
- McCrudden K et al; Abdominal Hernias, eMedicine, Apr 2010
- Chabra S, Gleason C; Gastroschisis Embryology, Pathogenesis, Epidemiology. NeoReviews, Nov 2005; 6: e493-e499
- Glasser J; Omphalocele and Gastroschisis, eMedicine, Jul 2009
- Kleinrouweler CE, Kuijper CF, van Zalen-Sprock MM, et al; Characteristics and Outcome and the Omphalocele Circumference/Abdominal Fetal Diagn Ther. 2011 Feb 16.
- Holland AJ, Walker K, Badawi N; Gastroschisis: an update. Pediatr Surg Int. 2010 Sep;26(9):871-8. Epub 2010 Aug 5.
- Castilla EE, Mastroiacovo P, Orioli IM; Gastroschisis: international epidemiology and public health perspectives. Am J Med Genet C Semin Med Genet. 2008 Aug 15;148C(3):162-79.
- Mac Bird T, Robbins JM, Druschel C, et al; Demographic and environmental risk factors for gastroschisis and omphalocele in J Pediatr Surg. 2009 Aug;44(8):1546-51.
- Stoll C, Alembik Y, Dott B, et al; Omphalocele and gastroschisis and associated malformations. Am J Med Genet A. 2008 May 15;146A(10):1280-5.
- Khan A et al; Omphalocele, eMedicine, Apr 2008
- Pumberger W, Patzak B, Prayer D, et al; Fetal liver magnetic resonance imaging in anterior body wall defects: a study of specimens from the museum of pathology.; J Pediatr Surg. 2003 Aug;38(8):1147-51.
- Meeker TM; Pentalogy of Cantrell: reviewing the syndrome with a case report and nursing J Perinat Neonatal Nurs. 2009 Apr-Jun;23(2):186-94.
- Romanelli V, Meneses HN, Fernandez L, et al; Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the Eur J Hum Genet. 2011 Jan 19.
- Khan A et al; Gastroschisis, eMedicine, May 2008
- Mortellaro VE, Peter SD, Fike FB, et al; Review of the evidence on the closure of abdominal wall defects. Pediatr Surg Int. 2010 Dec 14.
- Rahn S, Bahr M, Schalamon J, et al; Single-center 10-year experience in the management of anterior abdominal wall defects. Hernia. 2008 Aug;12(4):345-50. Epub 2008 Apr 15.
- Mann S, Blinman TA, Douglas Wilson R; Prenatal and postnatal management of omphalocele. Prenat Diagn. 2008 Jul;28(7):626-32.
- Reigstad I, Reigstad H, Kiserud T, et al; Preterm elective caesarean section and early enteral feeding in gastroschisis. Acta Paediatr. 2011 Jan;100(1):71-4. doi: 10.1111/j.1651-2227.2010.01944.x.
- Machida M, Takamizawa S, Yoshizawa K; Umbilical cord inverting technique: a simple method to utilize the umbilical cord Pediatr Surg Int. 2011 Jan;27(1):95-7.
- Lobo JD, Kim AC, Davis RP, et al; No free ride? The hidden costs of delayed operative management using a J Pediatr Surg. 2010 Jul;45(7):1426-32.
- McNamara WF, Hartin CW, Escobar MA, et al; Outcome differences between gastroschisis repair methods. J Surg Res. 2011 Jan;165(1):19-24. Epub 2010 Jun 16.
- Khalil BA, Baath ME, Baillie CT, et al; Infections in gastroschisis: organisms and factors. Pediatr Surg Int. 2008 Sep;24(9):1031-5. Epub 2008 Jul 31.
- Jones BA et al; Intestinal Atresia, Stenosis, and Webs, eMedicine, May 2009
- Nicholas SS, Stamilio DM, Dicke JM, et al; Predicting adverse neonatal outcomes in fetuses with abdominal wall defects using Am J Obstet Gynecol. 2009 Oct;201(4):383.e1-6. Epub 2009 Aug 29.
- South AP, Marshall DD, Bose CL, et al; Growth and neurodevelopment at 16 to 24 months of age for infants born with gastroschisis. J Perinatol. 2008 Jul 10.
- South AP, Wessel JJ, Sberna A, et al; Hospital readmission among infants with gastroschisis. J Perinatol. 2011 Feb 10.
|Original Author: Dr Laurence Knott||Current Version: Dr Laurence Knott|
|Last Checked: 23/05/2011||Document ID: 1023 Version: 24||© EMIS|
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