CDH

Congenital Diaphragmatic Hernia (CDH) is a birth defect characterized by the abnormal development of the diaphragm, the muscle that separates the chest cavity from the abdominal cavity. This condition allows the abdominal organs to move into the chest cavity, hindering proper lung development. CDH is a serious condition that affects approximately 1 in every 2,500 to 5,000 live births.

Causes and Risk Factors

The exact cause of CDH is not well understood, but it is believed to involve a combination of genetic and environmental factors. Some cases of CDH are associated with genetic syndromes and chromosomal abnormalities, including trisomy 18 and trisomy 21. Risk factors may include a family history of CDH, maternal smoking, and certain medication use during pregnancy.

Symptoms and Diagnosis

Symptoms of CDH can vary significantly but often include severe respiratory distress shortly after birth. This is due to the underdevelopment (pulmonary hypoplasia) of the lungs caused by the presence of abdominal organs in the chest cavity. Diagnosis is typically made prenatally through ultrasound, where the displacement of abdominal organs into the chest cavity can be observed. In some cases, CDH may not be diagnosed until after birth through physical examination and imaging tests such as an X-ray.

Treatment

Treatment for CDH usually involves surgery to reposition the abdominal organs into the correct place and repair the diaphragm. However, before surgery can be performed, stabilization of the infant's breathing and circulation is necessary. This may involve the use of a mechanical ventilator, oxygen therapy, and sometimes a procedure called extracorporeal membrane oxygenation (ECMO) if the baby has severe lung dysfunction. The timing of surgery depends on the infant's overall condition and lung function.

Prognosis

The prognosis for infants with CDH varies widely and depends on several factors, including the size of the hernia, the degree of lung underdevelopment, and the presence of other anomalies. Despite advances in treatment, the mortality rate for CDH remains significant, with survival rates ranging from 60% to 70%. Long-term complications can include chronic lung disease, gastroesophageal reflux disease (GERD), and developmental delays.

Prevention

There are no known measures to prevent CDH. However, avoiding certain risk factors during pregnancy, such as smoking and the use of certain medications, may reduce the risk. Prenatal care and screening can help in early detection and planning for appropriate treatment after birth.