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Congenital diaphragmatic hernia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia is a birth defect where an opening in the diaphragm allows abdominal organs to move into the chest, potentially crowding the lungs and heart.

Overview

The diaphragm is a muscle that separates the abdomen from the chest. A congenital diaphragmatic hernia occurs when the diaphragm does not develop correctly before birth, ranging from a thinned area to a complete absence of the muscle. This opening allows organs like the stomach and intestines to move into the chest cavity, which can lead to pulmonary hypoplasia (underdevelopment of the lungs) and severe breathing difficulties at birth.

Types of Hernia

  • Bochdalek hernia: A defect in the side or back of the diaphragm; accounts for 80–90% of cases.
  • Morgagni hernia: A defect in the front part of the diaphragm; accounts for approximately 2% of cases and is less likely to cause severe symptoms at birth.
  • Rare types: Defects in the central region or complete absence of the muscle.

Causes

The cause of congenital diaphragmatic hernia is often unknown, though it is classified in several ways:

  • Syndromic: In 10–15% of cases, it is part of a larger syndrome (e.g., Donnai-Barrow, Fryns, or Pallister-Killian mosaic syndrome).
  • Associated Abnormalities: About 25% of non-syndromic cases involve abnormalities in other body systems, such as the heart, brain, or kidneys.
  • Isolated: 50–60% of cases are isolated, meaning there are no other major malformations.
  • Genetic Factors: Researchers are studying transcription factors and genes involved in cell structure and migration as potential causes.

Inheritance

Isolated congenital diaphragmatic hernia is rarely inherited, and in almost all cases, only one individual in a family is affected. When the hernia is part of a genetic syndrome or chromosomal abnormality, it may follow the inheritance pattern associated with that specific condition.

Frequently Asked Questions

Prenatal specialists evaluate lung development using the ultrasound-derived lung-to-head ratio (LHR), most commonly expressed as the observed-to-expected LHR (o/e LHR) to account for gestational age. Fetal MRI is also utilized to calculate total fetal lung volume (TFLV) and evaluate whether the liver has herniated into the thoracic cavity; a lower o/e LHR and an intrathoracic liver position indicate more severe pulmonary hypoplasia and an increased risk of pulmonary hypertension at birth.
Survivors require multidisciplinary monitoring for chronic pulmonary issues such as recurrent respiratory infections, persistent pulmonary hypertension, and bronchopulmonary dysplasia. Other common long-term complications include severe gastroesophageal reflux disease (GERD), feeding aversions, failure to thrive, musculoskeletal deformities like scoliosis or pectus excavatum, hearing loss, and neurodevelopmental delays stemming from perinatal hypoxia.
FETO is an advanced fetal intervention considered primarily in severe isolated CDH cases where prenatal imaging indicates a very poor prognosis, such as an o/e LHR below 25-30% with liver herniation. Performed between 27 and 31 weeks of gestation, the procedure involves placing a temporary balloon in the fetal trachea to trap lung fluid, which generates pressure that stimulates lung tissue proliferation and vascular growth before the balloon is removed prior to delivery.
Surgical repair of a congenital diaphragmatic hernia is rarely performed immediately after birth. Instead, the surgical team prioritizes cardiopulmonary stabilization over several days in the neonatal intensive care unit. Delaying surgery allows clinicians to manage persistent pulmonary hypertension, optimize mechanical ventilation, and potentially wean the infant off inotropic medications or extracorporeal membrane oxygenation (ECMO), which significantly improves surgical survival rates.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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