Congenital Diaphragmatic Hernia (CDH)

What Is Congenital Diaphragmatic Hernia?

Congenital diaphragmatic hernia (CDH) is a serious birth defect in which there is an opening in the diaphragm — the muscle that separates the chest from the abdomen. This defect allows abdominal organs such as the intestines, stomach, or liver to move into the chest cavity, preventing normal lung development.

CDH affects approximately 1 in 2,500 to 1 in 5,000 live births and requires prompt evaluation and specialized care by a multidisciplinary pediatric team, including pediatric surgeons and neonatal specialists.

What Causes CDH?

CDH occurs during fetal development, typically between the 8th and 10th weeks of gestation. The exact cause is often unknown, though it may be associated with:

  • Abnormal development of the diaphragm
  • Genetic mutations or chromosomal conditions (in some cases)
  • Disruption in the separation of chest and abdominal cavities

The severity of CDH depends on the size of the defect and how much it interferes with lung growth — a condition known as pulmonary hypoplasia.

Signs and Symptoms

Symptoms of CDH are usually present at birth and may include:

  • Difficulty breathing or respiratory distress
  • A sunken abdomen or barrel-shaped chest
  • Bluish skin tone (cyanosis)
  • Rapid breathing and heart rate
  • Decreased breath sounds on the affected side

In some cases, CDH is diagnosed before birth during a routine prenatal ultrasound, where abdominal organs may be seen in the fetal chest cavity.

How CDH Is Diagnosed

Prenatal diagnosis is common and often confirmed through:

  • Fetal ultrasound — which may reveal displaced abdominal organs
  • Fetal MRI or echocardiogram — to assess lung development and heart position

After birth, diagnosis may involve:

  • Chest X‑ray — to confirm the presence of abdominal organs in the chest
  • Blood gas testing — to assess breathing and oxygenation levels
  • Echocardiogram — to evaluate the heart for associated defects or pulmonary hypertension

Treatment and Surgical Management

Treatment for CDH begins with stabilization after birth, often in a neonatal intensive care unit (NICU). The baby may require:

  • Breathing support, including mechanical ventilation
  • Nitric oxide or other interventions to manage pulmonary hypertension
  • Extracorporeal membrane oxygenation (ECMO) in severe cases

Once stabilized, surgical repair is performed to reposition the abdominal organs and close the diaphragmatic defect. This may be done using:

  • Primary repair — direct closure of the opening
  • Patch repair — for larger defects requiring synthetic material

The timing of surgery depends on the infant’s stability and lung function.

Long-Term Outlook

While many children recover and thrive after CDH repair, long-term care is often needed to monitor:

  • Lung function and respiratory health
  • Feeding and growth
  • Developmental milestones
  • Potential hernia recurrence or GI symptoms

Early intervention and coordination with specialists ensure the best outcomes.

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Frequently Asked Questions

CDH occurs when the diaphragm does not fully form during fetal development, allowing abdominal organs to enter the chest and interfere with lung growth.

Yes. Many cases are diagnosed prenatally during routine ultrasound. Additional imaging like fetal MRI may help assess severity.

Yes. Surgical repair is required to move abdominal organs back into place and close the diaphragmatic defect. Timing is based on the baby's stability and lung function.

Outcomes vary depending on the size of the hernia, lung development, and overall health. With prompt treatment and follow-up care, many children go on to live healthy lives.

Yes. Children with CDH often need long-term follow-up to monitor breathing, nutrition, growth, and development, especially during infancy and early childhood.