Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a birth defect that occurs when there is a hole in the diaphragm, which is the muscle that separates the chest cavity from the abdominal cavity. This hole allows organs from the abdomen to move into the chest cavity, which can put pressure on the developing lungs and cause them to be underdeveloped.

Causes and Risk Factors

The exact cause of CDH is not known, but it is thought to occur during fetal development when the diaphragm does not form properly. Some risk factors that may increase the likelihood of CDH include:

• Family history of CDH
• Pregnancy complications, such as placenta previa or preeclampsia
• Maternal age over 35 years
• Multiple gestations (twins, triplets, etc.)

Symptoms

The symptoms of CDH can vary depending on the severity of the condition and the amount of lung tissue that is affected. Some common symptoms include:

• Difficulty breathing or rapid breathing
• Cyanosis (blue discoloration of the skin)
• Grunting or straining to breathe
• Retraction of the chest wall (the chest appears to be sucking in)
• Poor appetite or difficulty feeding

Diagnosis

CDH is typically diagnosed prenatally during a routine ultrasound examination. If CDH is suspected, additional tests may be ordered to confirm the diagnosis and assess the severity of the condition. These tests may include:

• Fetal MRI (magnetic resonance imaging)
• Fetal echocardiogram (ultrasound of the heart)
• Amniocentesis (test for genetic disorders)

Treatment

The treatment for CDH depends on the severity of the condition and the amount of lung tissue that is affected. Some common treatments include:

• Surgical repair of the diaphragm, which may be performed immediately after birth or later in life
• ECMO (extracorporeal membrane oxygenation) therapy to support the lungs and heart
• Ventilatory support to help the baby breathe
• Nutritional support to ensure the baby is getting enough nutrients

Prognosis

The prognosis for babies with CDH varies depending on the severity of the condition and the amount of lung tissue that is affected. With prompt medical attention and treatment, many babies with CDH can survive and lead healthy lives. However, some may experience long-term complications, such as:

• Chronic lung disease
• Pulmonary hypertension (high blood pressure in the lungs)
• Gastroesophageal reflux disease (GERD)
• Developmental delays or disabilities

Current Research and Future Directions

Researchers are working to improve our understanding of CDH and develop new treatments for the condition. Some areas of current research include:

• Stem cell therapy to promote lung development and repair
• Gene therapy to correct genetic mutations that contribute to CDH
• New surgical techniques, such as fetal surgery, to repair the diaphragm before birth
• Improved ventilatory support and ECMO therapy to reduce the risk of complications and improve outcomes