Omphalocele

Omphalocele, or exomphalos, is a congenital midline abdominal wall defect at the umbilical ring in which abdominal viscera herniate into the base of the umbilical cord.

The herniated viscera are covered by a sac composed of:

Peritoneum internally
Wharton jelly
Amnion externally

The umbilical cord inserts into the apex of the sac.

This distinguishes omphalocele from gastroschisis, where exposed bowel has no covering sac and the defect is usually right of the umbilicus.

The herniated contents can include:

Small bowel
Colon
Stomach
Liver

A giant omphalocele generally refers to a large defect containing a substantial portion of liver, although definitions vary between studies. ([pubmed.ncbi.nlm.nih.gov](https://pubmed.ncbi.nlm.nih.gov/38992931/))

Associated congenital abnormalities determine prognosis more strongly than the abdominal wall defect itself in many infants.

Important associations include:

Congenital heart disease
Trisomy 13
Trisomy 18
Trisomy 21
Beckwith Wiedemann syndrome
Pentalogy of Cantrell
Pulmonary hypoplasia

Immediate management

Maintain temperature.

Protect the sac from:

Trauma
Rupture
Evaporation
Infection

Use sterile nonadherent dressings and an appropriate protective covering.

Keep nil orally initially.

Insert an orogastric tube for decompression when significant intestinal distension is present.

Establish IV fluids according to neonatal requirements.

Fluid losses are generally lower than in gastroschisis because an intact sac limits evaporation.

Do not clamp or divide a broad umbilical base blindly because bowel or other viscera may lie within the cord.

Primary closure

A small omphalocele with adequate abdominal domain can undergo early primary closure.

Reduce the viscera gently.

Close the fascia only when the infant tolerates reduction without significant:

Ventilatory deterioration
Reduction in venous return
Renal hypoperfusion
Lower limb venous congestion

Do not force the liver into a small abdominal cavity simply to achieve neonatal primary closure.

Giant omphalocele

Management must be individualised according to:

Pulmonary function
Liver herniation
Abdominal domain
Associated cardiac anomalies
Skin availability

Options include:

Staged operative reduction

A silo, mesh or staged closure gradually returns abdominal contents.

Delayed nonoperative epithelialisation

The sac is treated to encourage eschar formation and epithelialisation, converting the defect into a large ventral hernia that can be repaired months or years later after the abdominal cavity has enlarged.

No single closure strategy is clearly superior for every giant omphalocele, and recent reviews continue to demonstrate substantial variation in practice. ([pubmed.ncbi.nlm.nih.gov](https://pubmed.ncbi.nlm.nih.gov/38992931/))

Monitoring during reduction

Watch for intra abdominal hypertension.

Concerning findings include:

Rising ventilator pressures
Hypercapnia
Hypotension
Reduced urine output
Lower limb oedema or venous congestion
Increasing lactate

If these occur, stop or reverse the reduction.

Feeding

Enteral feeding can begin once:

Gut function is adequate
No associated intestinal obstruction exists
Respiratory status permits safe feeding

Giant defects and associated anomalies can significantly delay full nutrition.

Long term problems

Important issues include:

Ventral hernia
Adhesive obstruction
Gastroesophageal reflux
Feeding difficulties
Pulmonary disease
Cosmetic abdominal wall deformity
Complications from associated syndromes

Clinical toolsCalculators

BMI GCS EDD Parkland Formula

Corrected Sodium Corrected Calcium Anion Gap Creatinine Clearance Insulin Calculations qSOFA Wells PE Wells DVT CHA₂DS₂-VASc HAS-BLED CURB-65 Centor/McIsaac

Congenital Diaphragmatic Hernia

Also known as: CDH

Congenital diaphragmatic hernia is a developmental defect of the diaphragm allowing abdominal viscera to enter the thoracic cavity.

The major physiological problem is not simply herniated bowel. Severe disease is characterised by:

Pulmonary hypoplasia
Abnormally developed pulmonary vasculature
Pulmonary hypertension
Ventricular dysfunction

Surgical repair therefore occurs after cardiopulmonary stabilisation, not as an immediate neonatal emergency.

Anatomical types

Bochdalek hernia

Posterolateral defect.

Approximately 80% to 90%.

Usually left sided.

May contain:

Small bowel
Colon
Stomach
Spleen
Liver

Right sided disease commonly contains liver.

Morgagni hernia

Anterior or retrosternal defect.

Usually presents later and may be discovered incidentally.

Central diaphragmatic defect

Rare.

Prenatal prognostic factors

Severe disease is associated with:

Large defect
Intrathoracic liver herniation
Low observed to expected lung to head ratio
Severe pulmonary hypertension after birth

Severe left sided CDH presents immediately after birth with:

Respiratory distress
Cyanosis
Scaphoid abdomen
Reduced breath sounds on the affected side
Displaced cardiac impulse
Bowel sounds within the chest

A chest radiograph after nasogastric tube placement typically demonstrates bowel occupying the hemithorax with mediastinal shift.

Milder defects can present later with:

Recurrent respiratory symptoms
Feeding difficulty
Abdominal pain
Bowel obstruction
Incidental radiographic abnormality

Delivery room management

Do not use routine bag mask ventilation.

Immediately:

Intubate the trachea
Insert a large orogastric tube
Place gastric tube on continuous suction
Establish vascular access
Monitor preductal and postductal oxygen saturation

The aim is gentle ventilation while avoiding barotrauma to the hypoplastic lungs.

Ventilation

Use conventional mechanical ventilation initially.

Limit peak inspiratory pressure to approximately 25 cm H₂O or less where feasible. Accept permissive hypercapnia rather than using injurious pressures simply to normalise PaCO₂. ([pmc.ncbi.nlm.nih.gov](https://pmc.ncbi.nlm.nih.gov/articles/PMC5790558/))

A practical target is:

Preductal oxygen saturation approximately 85% to 95%
Accept PaCO₂ approximately 45 to 60 mmHg when systemic pH remains acceptable

Avoid excessive oxygen exposure once adequate preductal saturation is achieved.

Use high frequency ventilation as rescue therapy when adequate gas exchange cannot be achieved without excessive conventional ventilator pressures. ([pmc.ncbi.nlm.nih.gov](https://pmc.ncbi.nlm.nih.gov/articles/PMC5790558/))

Pulmonary hypertension

Optimise:

Oxygenation
Ventilation
Acid base status
Temperature
Haemoglobin
Systemic blood pressure

Avoid systemic hypotension because right to left shunting worsens when pulmonary vascular resistance exceeds systemic resistance.

Inhaled nitric oxide may benefit selected infants with pulmonary hypertension when left ventricular function is adequate, but response is variable in CDH.

Severe left ventricular dysfunction can worsen pulmonary oedema if pulmonary vasodilation increases flow into a poorly functioning left heart.

Use echocardiography to guide vasoactive and pulmonary vascular therapy.

ECMO

Consider extracorporeal support for severe reversible cardiopulmonary failure despite optimal conventional management.

Potential triggers include persistent:

Severe hypoxaemia
Acidosis
Hypercapnia despite safe ventilatory pressures
Refractory hypotension
Severe pulmonary hypertension with inadequate systemic oxygen delivery

Timing of repair

Do not rush to theatre immediately after birth.

Repair after physiological stabilisation.

Useful evidence of readiness includes:

Stable blood pressure
Improving lactate
Acceptable urine output
Reduced ventilator requirements
Controlled pulmonary hypertension
Adequate oxygenation on tolerable support

The infant may require several days of intensive stabilisation before surgery.

Operative repair

Reduce abdominal organs gently from the thorax.

Do not injure:

Spleen
Liver
Bowel

Assess the diaphragmatic defect.

Small defect

Primary closure with nonabsorbable sutures.

Large defect

Use prosthetic or biological patch reconstruction when primary closure would be under excessive tension.

Avoid excessive tension because it contributes to recurrence.

Open abdominal repair is common in neonates because it allows assessment of abdominal viscera and abdominal domain.

Thoracoscopic repair can be considered in selected stable infants with smaller defects, but severe neonatal disease usually requires open surgery.

Abdominal compartment considerations

After reduction of longstanding thoracic viscera, the abdominal cavity may be relatively small.

Do not force primary abdominal fascial closure when this produces:

Severe ventilatory deterioration
Reduced venous return
Oliguria
Lower limb perfusion compromise

A temporary abdominal closure can be used when necessary.

Long term follow up

Survivors require surveillance for:

Chronic lung disease
Persistent pulmonary hypertension
Gastroesophageal reflux
Feeding problems
Failure to thrive
Scoliosis
Chest wall deformity
Sensorineural hearing loss
Neurodevelopmental impairment
Hernia recurrence

Recurrence risk is greatest after large patch repaired defects.

Omphalocele

Overview

Clinical Features

Diagnosis

Management

Overview

Clinical Features

Diagnosis

Management