Overview
Congenital diaphragmatic hernia (CDH) is a life-threatening congenital malformation that occurs due to the failure of the diaphragm to fuse properly. This leads to the herniation of the abdomen’s contents into the chest, impairing lung formation which can lead to pulmonary hypertension and pulmonary hypoplasia, resulting in severe respiratory distress.
The most common type of CDH is a Bochdalek hernia (75% of cases), which describes a mostly-left sided (or sometimes right-sided) posterolateral defect in the diaphragm.
Epidemiology
- Congenital diaphragmatic hernia can affect up to 1 in 2500 births
- Males are more commonly affected than females
- Most cases of CDH are idiopathic
Presentation
Most cases are diagnosed prenatally on routine ultrasound scans or after scans identify polyhydramnios. Delivery plans are put in place and CDH is treated immediately.
Signs of CDH at birth can include:
- Respiratory distress – cyanosis, tachypnoea, tachycardia
- Chest wall asymmetry
- Abnormal chest sounds:
- Absent breath sounds on one side (most commonly the left)
- Bowel sounds heard over the chest wall
- Palpating the abdomen may feel ‘less full’
Investigations
Overview
Most infants are diagnosed prenatally by ultrasound scans. Postnatally, a chest X-ray or ultrasound scan can identify CDH, which shows abdominal contents in the chest cavity.
Management
Overview
Treatment involves intensive support, resuscitation and careful measures to improve oxygenation (such as intubation and ventilation) and surgery.
Prognosis
- Overall survival is around 50% despite intervention
