Congenital diaphragmatic hernia (CDH) is a complex condition that occurs when the diaphragm—the muscle that separates the chest from the abdomen—does not form correctly, allowing the abdominal organs to shift up into the chest. This can crowd the lungs and heart and impede their development.
- CDH is one of the most common congenital abnormalities, affecting approximately one in 3,000 to 5,000 babies.
- CDH is potentially life-threatening and can have significant impact on a child’s development, presenting short-and long-term challenges that require specialized treatment and support.
- The cause of CDH is unknown, but current research is trying to determine if there is an underlying genetic cause.
- Babies with CDH require surgery to correct the condition and reposition the shifted organs. Because the lungs have been unable to develop enough to function properly, specialized respiratory support techniques and intensive care are required until the baby is stable enough for surgery and during recovery.
What Is Congenital Diaphragmatic Hernia (CDH)?
Congenital diaphragmatic hernia (CDH) is a serious condition where the diaphragm—the muscle that separates the chest from the abdomen—doesn’t form properly as the fetus develops. This leaves an opening that can allow the abdominal organs to shift up into the chest, crowding the lungs and heart.
The severity of CDH depends on the size and location of the opening:
- Left side: Over 80% of all CDH cases develop on the left side of the diaphragm. This typically allows the stomach and intestines to shift up into the chest.
- Right side: When the opening is located on the right side, the liver is more likely to shift into the chest. Because the liver is a solid organ, it is more restrictive for the developing lungs.
The larger the opening, the easier it becomes for the abdominal organs to shift.
Without proper space to grow, the baby’s lungs remain small and underdeveloped— a condition called pulmonary hypoplasia. Poor blood vessel development can also cause pulmonary hypertension, or high blood pressure in the lungs.
Although it can occur along with genetic disorders or other congenital anomalies, the exact cause of CDH is currently unknown.
CDH is often diagnosed during routine ultrasound screenings. Once the initial diagnosis is made, additional tests can confirm the diagnosis and determine the severity. It is critically important to get an expert assessment of the baby’s condition prior to delivery to determine the best treatment options.
Experts will use tests like fetal ultrasound and magnetic resonance imaging (MRI) to determine the size and development of the baby’s lungs.
Because CDH can be associated with some genetic disorders, additional testing is typically performed, such as amniocentesis to determine if there is a genetic or chromosomal issue.
Once CDH is diagnosed, it’s important to work with an experienced team of experts to track the baby’s development throughout the pregnancy. The baby’s prenatal care team should include the following types of physicians:
- Obstetricians specializing in high-risk pregnancies
- Maternal-fetal medicine specialists
- Pediatric surgeons
Regular ultrasounds and exams will help monitor how CDH is affecting the baby’s lungs and overall health. Having an accurate understanding will help determine the best treatment options for the baby.
Once the baby is delivered, CDH requires surgery to repair the hernia. But the baby must first be stabilized to be healthy enough for surgery. Many babies born with CDH will need special support to make sure their lungs can function properly. In severe cases, it may be necessary to perform a prenatal intervention to help make sure the lungs develop enough that the baby will be able to survive. Some babies may also require intervention during delivery to maintain healthy oxygen levels.
- Gentle ventilation: A breathing support method that uses a tube connected to a special type of ventilator (breathing machine). Pressure is carefully monitored to avoid damaging the developing lungs.
- HFOV (high-frequency oscillatory ventilation): This treatment uses small, rapid breaths to provide constant, consistent pressure in the airway. HFOV is used when gentle ventilation isn’t effective.
- iNO: Inhaled nitric oxide (iNO) may be administered to help stabilize the baby’s breathing.
- ECMO (extracorporeal membrane oxygenation): ECMO is a treatment that provides temporary support for the heart and lungs by oxygenating the blood through an external machine.
- EXIT-to-ECMO: In some cases, it is necessary to perform a specialized delivery to stabilize the baby using ECMO before cutting the umbilical cord. The EXIT-to-ECMO strategy starts with the EXIT (ex utero intrapartum treatment) procedure. EXIT is a surgical delivery that maintains the umbilical cord connection until the ECMO treatment is in place. This makes sure that there is no interruption of the supply of oxygen to the baby.
Surgical Repair for CDH
Once the baby has stabilized, CDH can be surgically repaired. The shifted organs will be repositioned and the opening will be repaired. The method used is determined by the size of the opening and condition of the diaphragm.
- Primary repair: If the opening in the diaphragm is small, the hole can be sewn shut.
- Patch repair: If the opening in the diaphragm is large or the diaphragm is missing too much tissue, a synthetic patch will be used to close the opening.
A pediatric surgeon will evaluate the size and location of the opening to determine the best method for repair. In some cases, CDH can be repaired using minimally invasive techniques like video-assisted thoracoscopic surgery (VATS).
The baby will still need intensive care during their recovery, including respiratory and nutritional support. This can take weeks or even months, depending on their needs.
Thanks to advances in treatment, children born with CDH are living longer, more productive lives. With careful monitoring and surgical correction, the outlook for babies born with CDH has improved dramatically, with survival rates being around 70%.
But these children often face lifelong health challenges. Long-term follow-up is critical for managing these complications, which may include:
- Pulmonary hypertension
- Gastrointestinal issues (heartburn)
- Developmental delays
- Hearing problems
- Skeletal development (scoliosis)
If your baby may have or is known to have a congenital diaphragmatic hernia (CDH), you’ll want to find a specialized, multidisciplinary care team to help monitor their health, find the best treatment plan and offer ongoing support into adulthood. The Congenital Diaphragmatic Hernia Program at Columbia is here to help you. Our program combines unmatched clinical expertise with the latest research and most advanced treatments to provide the best outcomes for your baby and you.
To make an appointment with the Columbia Congenital Diaphragmatic Hernia Program, please call (212) 342-8586 or use our appointment request form.