Congenital diaphragmatic hernia (CDH) is a rare condition that affects some babies before they are born. This occurs when the diaphragm, the muscle that separates the chest from the abdomen, does not close completely during pregnancy. As a result, some abdominal organs move into the chest cavity, causing problems with lung growth and heart function. This causes a hole in the diaphragm, which allows the stomach, liver, and intestines to enter.
There is no definitive cause for CDH. In most cases, CDH is not associated with anything the mother did or did not do during pregnancy. It may, however, be associated with genetic disorders or mutations that affect the development of the diaphragm and other organs. Most cases, however, are not inherited and occur at random.
The symptoms of CDH vary according to the size and location of the hole in the diaphragm and the amount and type of organs that have moved into the chest. The most common symptom is severe breathing difficulty, which may be noticeable right after birth or within a few hours. Other symptoms may include:
Bluish skin color due to low oxygen levels in the blood
Rapid breathing and heartbeat
Chest asymmetry or bulging
Abdominal distension or concavity
Difficulty feeding
Poor growth and weight gain
It can be diagnosed either before or after birth. The most common way to detect CDH is by a routine ultrasound exam during pregnancy, usually between 18 and 22 weeks of gestation. During ultrasound, the baby's lungs, heart, and abdominal organs can be visualized. A child's CDH can sometimes be detected later in pregnancy or after birth, especially if the symptoms are mild or absent. To confirm the diagnosis and assess the severity of CDH, the following tests may be performed:
Fetal magnetic resonance imaging (MRI), which can provide more detailed images of the baby’s organs and tissues
Fetal echocardiogram, which can evaluate the structure and function of the baby’s heart and blood vessels
Genetic tests, which can identify any chromosomal abnormalities or gene mutations that may be related to CDH
Chest X-ray, which can show the presence and location of the abdominal organs in the chest
Blood tests, which can measure the oxygen and carbon dioxide levels in the blood and check for signs of infection or bleeding
Depending on the baby's condition and the availability of medical resources, CDH can be treated. As a result of the treatment, the baby's breathing and circulation are stabilized, the diaphragm is repaired, and any complications are prevented or treated. The treatment options include:
Endotracheal intubation, which involves inserting a tube through the mouth or nose into the windpipe to help the baby breathe
Mechanical ventilation, which involves using a machine to deliver oxygen and air pressure to the lungs
Surfactant therapy, which involves giving a liquid substance to the lungs to help them expand and function better
Nitric oxide therapy, which involves inhaling a gas that can relax the blood vessels in the lungs and lower the blood pressure
Extracorporeal membrane oxygenation (ECMO), which involves using a machine to take over the function of the lungs and the heart temporarily
Surgery, which involves closing the hole in the diaphragm and moving the abdominal organs back to their normal position
Medications, which may include antibiotics, painkillers, sedatives, and diuretics
A baby's treatment may vary depending on the severity of CDH and the baby's condition. Some babies may need immediate treatment after birth, while others may be able to wait for a few days or weeks before receiving treatment. As the baby's condition improves or worsens over time, the treatment may also change. Some babies may only need one or a few of the treatments, while others may require a combination of them.
There is no known way to prevent CDH, as it is not caused by any environmental or lifestyle factors. However, some steps that may reduce the risk of CDH or improve the outcome include:
Getting regular prenatal care and screening tests during pregnancy
Taking folic acid supplements before and during pregnancy
Avoiding smoking, alcohol, and drugs during pregnancy
Seeking specialized care at a hospital that has experience and expertise in treating CDH
Participating in support groups or counseling for parents and families affected by CDH
Some babies are affected by CDH, a rare but serious condition that affects their lungs and hearts during development and function. CDH can cause life-threatening breathing problems and other complications. Treatment of CDH is complex and challenging, and requires the involvement of a multidisciplinary team. In addition to the size and location of the hole in the diaphragm, the amount and type of organs in the chest, the presence of other anomalies, and the response to treatment, the prognosis for CDH depends on many factors. There are babies with CDH who survive and recover well, while others may suffer long-term health problems or even die. Although CDH cannot be prevented, early diagnosis and appropriate treatment can improve survival and quality of life.
