Congenital Diaphragmatic Hernia (CDH) is a rare but serious condition that affects newborns and disrupts normal lung development before birth. This structural defect occurs when the diaphragm—a muscular structure that separates the chest from the abdomen—does not form completely. Therefore, abdominal organs can move into the chest cavity.
Early diagnosis and interdisciplinary medical care are essential in managing CDH and improving outcomes for affected infants and their families.
What is Congenital Diaphragmatic Hernia (CDH)?
CDH is a birth defect that creates an opening (or hernia) in the diaphragm, which allows organs, such as the stomach, intestines and liver, to move into the chest cavity. The displacement of these organs can impair lung development and growth, and, ultimately, affects breathing.
The condition arises during the early stages of fetal development, typically within the first 8-10 weeks of pregnancy.
CDH can vary in severity, depending on the size of the defect and the extent of lung involvement. It’s estimated to occur in about 1 in 32,000 births in the U.S.
What Causes Congenital Diaphragmatic Hernia?
The exact cause of CDH is not known. It’s believed to result from a combination of genetic and environmental factors.
- Sporadic cases: The majority of CDH cases (about 80 percent) occur without a known family history or identifiable risk factors.
- Genetic factors: Mutations in certain genes, such as genes involved in the development of the diaphragm, may contribute to CDH. In some cases, CDH is associated with chromosomal conditions or syndromes that can cause abnormalities in other areas of the body, too. About 50 percent of newborns with CDH have additional defects of the brain, heart and intestines.
- Environmental factors: Some experts believe exposure to certain substances during pregnancy, such as tobacco smoke or medications, can also potentially play a role, but this is controversial.
What are the Signs and Symptoms of CDH?
CDH is most often diagnosed before birth during a routine ultrasound, while some cases are identified after delivery. In rare cases (about 5 percent to 10 percent of the time), CDH doesn’t cause any noticeable symptoms until later in life when someone starts experiencing trouble breathing or abdominal pain.
Common signs and symptoms of CDC can include:
Before Birth:
- Abnormal positioning of abdominal organs that can be seen on prenatal ultrasound
- Excessive amniotic fluid (polyhydramnios), which can indicate swallowing difficulties
After Birth:
- Severe breathing difficulties due to underdeveloped lungs (pulmonary hypoplasia)
- A sunken or scaphoid (concave) abdomen
- Cyanosis (a bluish tint to the skin due to lack of oxygen)
- Rapid breathing or heartbeat
- Poor feeding and failure to thrive in less severe cases
How is CDH Treated?
Treatment for CDH typically involves a combination of immediate interventions after birth and long-term management. A team of specialists, including neonatologists, pediatric surgeons and respiratory therapists, typically manages care for infants with CDH.
The specific approach taken depends on the severity of the condition and the child’s overall health.
Prenatal Management
- In severe cases, specialized fetal procedures, such as fetoscopic endoluminal tracheal occlusion (FETO), may be performed to improve lung development.
- Close monitoring through ultrasounds and MRIs can help assess the condition.
Immediate Stabilization
- Babies with CDH often require mechanical ventilation to support breathing immediately after birth.
- Extracorporeal Membrane Oxygenation (ECMO) may be used in severe cases to temporarily take over the work of the heart and lungs.
Surgical Repair
- Once the baby is stable, surgery is performed to close the opening in the diaphragm and reposition the displaced organs. This procedure usually takes place after the baby is stabilized.
- Ongoing respiratory support may be needed after surgery, while the lungs continue to develop. Feeding support, such as through a feeding tube, may also be necessary if the baby has difficulty eating.
Long-Term Management
- Ongoing monitoring and support are often needed to address potential clinical challenges, such as chronic lung disease or developmental delays.
- Respiratory therapy and nutritional support are integral to recovery.
- Follow-up with developmental specialists ensures optimal growth and development.
Advances in prenatal diagnosis and surgical techniques have significantly improved outcomes for infants with CDH, offering hope to families facing this challenging diagnosis. If your child has been diagnosed with CDH, it’s crucial to consult with a specialized care team, like those at Stony Brook Children’s, who can provide expert guidance, treatment and ongoing support tailored to your child’s needs. For more information or to schedule a consultation, contact us today.
