Congenital diaphragmatic hernia (CDH)

It is caused by a defect in the formation of the diaphragm (the muscle separating the chest from the abdomen) during pregnancy. This abnormality allows some abdominal organs (the stomach, intestines and sometimes the liver) to move up into the chest cavity.

This migration disrupts normal lung development, resulting in:
• pulmonary hypoplasia (smaller and less developed lungs);
• an abnormality of the pulmonary vessels, which may cause pulmonary hypertension.

In most cases (approximately 85%), the hernia is located on the left side. Bilateral forms are rare.

Diagnosis

The diagnosis is most often made before birth, during:
• a prenatal ultrasound;
• a fetal MRI to assess lung development;
• genetic testing in some cases, to look for a form associated with a syndrome.

After birth, signs may include:
• immediate respiratory distress;
• bluish discolouration of the skin (cyanosis);
• an asymmetrical chest;
• a sunken abdomen;
• reduced breath sounds on one side.

Management of CDH is based on a multidisciplinary approach, which begins before birth and continues over the long term at the Children’s Hospital.

Care starting in the prenatal period

When the diagnosis is made during pregnancy:
• multidisciplinary meetings are organised with the parents;
• the prognosis is discussed based on imaging and test results;
• pregnancy monitoring is adapted and coordinated with the specialist teams.

At birth: stabilisation of the newborn

From birth, the priority is to stabilise the child:
• immediate respiratory support (intubation, ventilation);
• avoiding stomach distension to protect the lungs;
• management of pulmonary hypertension (specific medications, nitric oxide);
• in severe cases, extracorporeal membrane oxygenation (ECMO) may be required.

Surgical treatment

Once the child’s condition has stabilised:
• surgery is performed, generally within the first few days of life;
• it involves repositioning the abdominal organs and closing the diaphragm.

Long-term multidisciplinary follow-up

After surgery, regular follow-up at the Children’s Hospital is essential, involving several specialists:

• Paediatric Pneumology: monitoring respiratory function and preventing infections;
• Gastroenterology: management of gastro-oesophageal reflux and eating disorders;
• Cardiology: monitoring of pulmonary hypertension;
• Orthopaedics: monitoring of any deformities (such as scoliosis);
• Neuropaediatrics and Psychology: monitoring motor and cognitive development;
• Physiotherapy: respiratory and motor rehabilitation;
• Psychosocial support: supporting families throughout the care pathway.

The Children’s Hospital provides coordinated follow-up from the neonatal period through childhood and adolescence, in collaboration with the various specialists involved.