Diagnosis

Congenital diaphragmatic hernia

Etiology

Cause [qpe]

• Congenital developmental defect in the diaphragm

• Genetic, environmental, and/or nutritional factors

• Isolated anomaly or associated with other anomalies

Pathophysiology [qpe]

1. Disturbance in the formation of the pleuroperitoneal membranes

2. Diaphragmatic discontinuity --> congenital diaphragmatic hernia

3. Hernia --> pulmonary hyperplasia of the restricted ipsilateral lung

4. Respiratory distress/failure --> may result in pulmonary hypertension

Risk factors [fku]

• Male gender

• Maternal age beyond 40

• Caucasian ethnicity

• Smoking

• Alcohol use during pregnancy

CDH complications [fku][qpe]

• Prenatal:

  • Preterm birth

  • Intrauterine growth restriction

  • Stillbirth

  • Infant death (1-year mortality 45.9%)

• Postnatal:

  • Chronic lung disease

  • Home oxygen requirement

  • Aspiration pneumonia

  • Pulmonary hypertension

  • Obstructive airway disease

  • Oral feeding aversion

  • Gastroesophageal reflux

  • Growth failure

  • Neurocognitive delay

  • Sensorineural hearing loss

  • Asymmetry of the chest wall

  • Scoliosis

Epidemiology

Incidence per 100.000 [gsh][wey][fku][g7v][nmi][ekq]

Approach

• Blood gas

• Ultrasound abdomen

• Chest x-ray

• ECG

• Echocardiography

Treatment

1. Antenatal diagnosis is the optimal care [h3d]

2. Determine whether the defect is isolated or associated with other anomalies

3. Birth at a tertiary care center with pediatric surgery and neonatology services

4. After delivery: [h3d][qpe]

   • Intubation

   • Avoid non-invasive ventilation (gastric distension)

   • Placement of orogastric tube connected to suction

   • Gentle ventilation to avoid overdistention of hypoplastic lungs (risk of pneumothorax)

   • ECMO if severe respiratory failure

     • preductal oxygen saturations < 75% to 85%

     • postductal PaO2 < 30 mm Hg

     • peak inspiratory pressures < 30cmH2O

     • mean airway pressure < 15cmH2O

     • hypotension that is resistant to fluid and/or inotropic support

     • inadequate oxygen delivery with persistent metabolic acidosis

   • Echocardiographic assessment

   • Delayed surgical repair --> reduction of intrathoracic intestine and closure of the diaphragmatic defect.

Differential diagnoses

Congenital cystic adenomatoid malformation, Emphysema, Pneumothorax, Pulmonary hypertension, Pulmonary sequestration, Teratoma