Congenital diaphragmatic hernia is a structural defect in the diaphragm muscle that interferes with normal breathing. This condition allows abdominal organs to migrate into the chest cavity, often leading to rapid breathing or a bluish skin tint.
This condition typically develops before birth due to genetic changes that affect how the diaphragm forms. It can occur on its own or as part of a larger genetic syndrome affecting the infant’s development.
A pediatric surgeon manages the treatment process by performing surgery to repair the opening in the diaphragm. This procedure is vital for repositioning the organs and preventing life-threatening complications as the baby grows.
Main symptoms
The primary symptoms of congenital diaphragmatic hernia include:
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Rapid breathing or significant difficulty breathing
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An abnormally fast heart rate
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Cyanosis, which is a bluish tint to the skin, lips, and nails
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A chest that appears barrel-shaped
In some cases, a diaphragmatic hernia can lead to a bowel obstruction. This may cause symptoms such as difficulty having bowel movements, visible abdominal swelling, or signs of intense abdominal pain.
Confirming a diagnosis
An obstetrician can often diagnose a congenital diaphragmatic hernia during pregnancy using a routine prenatal ultrasound.
If the ultrasound reveals an abnormality, the doctor may order follow up tests. These can include a fetal echocardiogram, a fetal MRI, or amniocentesis to gather more detail about the baby's health.
After birth, a neonatologist confirms the diagnosis through a physical exam. They will typically use a chest X-ray and an echocardiogram to assess the position of the organs and heart function.
Possible causes
The precise cause of congenital diaphragmatic hernia is not yet fully understood by medical professionals.
The condition usually arises between the 8th and 10th weeks of pregnancy when the diaphragm fails to close properly.
The condition usually arises between the 8th and 10th weeks of pregnancy when the diaphragm fails to close properly. According to the Centers for Disease Control and Prevention (CDC), while the exact cause is often unknown, it is frequently linked to genetic conditions such as trisomy 18, Fryns syndrome, or Cornelia de Lange syndrome
Types of diaphragmatic hernias
There are two main types of congenital diaphragmatic hernias:
1. Bochdalek hernia
This is the most common form and is characterized by a hole in the back of the diaphragm. It allows abdominal organs to move upward, which can compress the lungs and lead to pulmonary hypoplasia (underdeveloped lungs). This may result in serious issues like heart failure or pulmonary hypertension.
2. Morgagni hernia
This rarer type involves an opening in the front of the diaphragm. Unlike the Bochdalek variety, a Morgagni hernia typically has a much smaller impact on the development and function of the baby’s lungs.
Treatment options
Treatment is coordinated by a neonatologist and a pediatric surgeon to stabilize the infant and repair the diaphragm. The goal is to ensure the baby can breathe effectively and to prevent long term complications.
The primary treatment steps include:
1. Neonatal intensive care
Immediately after birth, the baby is admitted to the NICU to stabilize their breathing. Based on the American Academy of Pediatrics (AAP), this may involve mechanical ventilation or Extracorporeal Membrane Oxygenation (ECMO), which acts as a temporary heart-lung bypass to support the body when traditional ventilation is insufficient.
2. Surgery
A pediatric surgeon performs the repair to close the hole in the diaphragm and move the abdominal organs back into their proper place. The timing of the surgery depends on the baby’s stability but usually occurs within the first few days or weeks of life.