What is the treatment approach for a newborn diagnosed with congenital diaphragmatic hernia (CDH)?

Treatment Approach for Congenital Diaphragmatic Hernia

The treatment of newborns with CDH centers on immediate respiratory stabilization with gentle ventilation strategies, delayed surgical repair after medical optimization, and aggressive management of pulmonary hypertension—the primary determinant of survival. 1

Initial Stabilization and Respiratory Management

Ventilation Strategy

• Minimize peak inspiratory pressure and avoid large tidal volumes (target 3.5-5 mL/kg) to prevent ventilator-associated acute lung injury, as this is a Class I recommendation. 1, 2
• The lung in CDH is hypoplastic with reduced functional residual capacity, making it highly susceptible to barotrauma and volutrauma. 1
• High-frequency oscillatory ventilation is a reasonable alternative when conventional ventilation fails due to poor lung compliance, low volumes, and inadequate gas exchange (Class IIa, Level A evidence). 1, 2

Oxygen Management

• Maintain oxygen saturations between 92-95% to avoid episodic hypoxemia while preventing oxygen toxicity. 1
• Immediate intubation in the delivery room is recommended when CDH is diagnosed prenatally, and delivery should occur at a tertiary center. 3

Management of Pulmonary Hypertension

Pulmonary hypertension occurs in 63% of CDH cases and carries 45% mortality, making it the critical determinant of survival. 1, 4

Inhaled Nitric Oxide (iNO)

• iNO should NOT be used routinely in CDH—this is a crucial pitfall to avoid. 1, 4
• iNO can be used selectively to improve oxygenation in infants with severe PH and suprasystemic pulmonary vascular resistance causing critical preductal hypoxemia, but only after establishing optimal lung inflation and adequate left ventricular performance (Class IIa, Level B). 1, 2
• Use iNO cautiously in patients with suspected left ventricular dysfunction, as lowering pulmonary vascular resistance can worsen pulmonary edema when the hypoplastic left ventricle cannot handle increased preload. 1, 4
• Randomized trials showed iNO did not reduce death or ECMO use in CDH, and one trial found increased ECMO use with iNO. 1

ECMO Support

• ECMO is recommended for patients with severe PH who fail medical therapy (Class I, Level B). 1, 2
• ECMO may salvage the most severely affected neonates and can stabilize patients before surgical repair. 1, 5

Alternative Therapies

• Prostaglandin E1 may be considered to maintain ductal patency and improve cardiac output in infants with suprasystemic PH or right ventricular failure by allowing right-to-left ductal shunting (Class IIb, Level C). 1, 2, 4
• Sildenafil and inhaled prostacyclin analogs are reasonable adjunctive therapies for refractory cases, though evidence is limited. 1
• Supportive care with digitalis and diuretics is reasonable for right heart failure but should be initiated cautiously (Class IIb, Level C). 1

Surgical Repair

Timing

• Surgery should be delayed to allow optimal medical stabilization—CDH is a physiological disease, not a surgical emergency. 5, 6
• The shift from immediate to delayed repair has improved outcomes at advanced centers. 5

Approach

• Laparoscopic repair is preferred in hemodynamically stable infants without significant comorbidities, with excellent safety profile (in-hospital mortality 0.14%). 3, 2
• Open surgical approach (laparotomy) is recommended for unstable patients with complicated CDH. 3
• Large defects (>8 cm or >20 cm²) require mesh reinforcement. 3

Critical Pitfalls to Avoid

Surfactant Therapy

• Surfactant treatment is NOT recommended for CDH—it has been associated with increased ECMO need, higher chronic lung disease incidence, and increased mortality. 4

Echocardiography

• Echocardiography is mandatory to evaluate pulmonary hypertension severity and left ventricular dysfunction, which critically influences treatment decisions. 3, 2
• Serial echocardiograms are recommended to monitor response to PH therapy (Class I, Level B). 1, 2

Diagnostic Confirmation

• CT scan of chest and abdomen is the gold standard for diagnosing CDH (sensitivity 14-82%, specificity 87%). 3, 2
• Initial chest X-ray may be normal in up to 62% of cases, particularly with right-sided hernias. 2

Long-Term Follow-Up

• Multidisciplinary follow-up is essential as survivors have high incidence of comorbidities including gastroesophageal reflux (up to 62%), pulmonary sequelae, neurodevelopmental deficits, and gastrointestinal disorders. 3, 6, 7
• Evaluation for long-term PAH-specific therapy should follow standard pediatric PH recommendations. 1