Congenital diaphragmatic hernia (CDH) is a condition where there is a hole in the membrane separating the chest and abdominal cavities. It is a birth defect that usually occurs due to incomplete development of the diaphragm muscle. The diaphragm is a muscular layer that separates the chest from the abdomen. This defect allows abdominal organs to move into the chest cavity. The diagnosis is typically made during pregnancy. It can usually be detected from the 20th week of routine prenatal screening. However, in rare cases, it may not be detected during pregnancy, and doctors diagnose the baby with respiratory distress immediately after birth.

Congenital diaphragmatic hernia is a rare condition in infants, with an incidence of approximately 1 in 2,500 births. It usually occurs on the left side but can rarely be seen on the right. It is more common in male infants.

Symptoms

If not diagnosed during pregnancy, the baby will suffer severe respiratory distress immediately after birth. Due to the hole in the diaphragm, abdominal organs have displaced into the chest cavity, preventing the lungs from inflating properly. Additionally, the lung on the side of the hernia is underdeveloped, a condition called pulmonary hypoplasia. The blood vessels of the underdeveloped lung are also abnormal. Therefore, these children need to be monitored by pediatric cardiology specialists as they grow.

The first hours of life are critical for babies with diaphragmatic hernia. These babies must be monitored in a neonatal intensive care unit connected to a ventilator and undergo surgery as soon as their condition allows. The timing of surgery should be decided collectively by neonatologists, pediatric cardiologists, and pediatric surgeons. If the lung blood vessel problems are severe, an ECMO procedure may be applied before surgery to provide sufficient oxygen to the body. This procedure is performed by pediatric cardiovascular surgeons but is available in very few centers in Turkey.

If the disease is not diagnosed during pregnancy, the following symptoms appear immediately at birth:

• Severe respiratory distress
• Chest asymmetry
• Abdominal retraction
• Rapid and shallow breathing
• Cyanosis (bluish discoloration)
• Feeding difficulties and vomiting

If left undiagnosed or untreated, the baby faces a risk of death in the delivery room. Therefore, suspected or diagnosed cases during pregnancy should be managed in experienced centers where obstetrics, neonatal intensive care, pediatric cardiology, cardiovascular surgery, and pediatric surgery units are present, and delivery should take place in these centers. If birth occurs outside such centers, babies must be urgently transferred to a neonatal intensive care unit.

Treatment

The severity of the disease is assessed by detailed ultrasounds during pregnancy. Based on severity, families are informed, and detailed treatment plans are made. Surgical repair of congenital diaphragmatic hernia by pediatric surgeons involves repositioning the stomach, intestines, spleen, liver, and other organs back to their natural places in the abdomen. Surgery can be performed via open or thoracoscopic (minimally invasive) methods. Thoracoscopic surgery typically uses three 3-millimeter instruments inserted through the chest cavity. In experienced centers, thoracoscopic approaches are applied in most babies with diaphragmatic hernia. However, open surgery may be necessary in cases such as:

• Very large diaphragmatic defects
• Most of the liver displaced into the chest cavity
• The baby’s condition does not allow minimally invasive surgery

If the diaphragmatic defect is very large, synthetic grafts (artificial diaphragm membranes) are used for repair. During or after surgery, complications such as bleeding, infection, wound problems, intestinal motility difficulties, skeletal or muscle abnormalities, and recurrence of the hernia may rarely occur. These complications are less frequent with minimally invasive surgery, which should be the first choice when appropriate.

Congenital diaphragmatic hernia is a serious condition that requires careful monitoring and timely intervention after birth. A multidisciplinary approach during pregnancy, delivery, and postnatal care is essential. Most babies successfully overcome this condition with early diagnosis and appropriate treatment.

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