Congenital Diaphragmatic Hernia (CDH)

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What is a congenital diaphragmatic hernia?

A congenital diaphragmatic hernia (CDH) is a hole in the diaphragm that occurs during fetal development. The diaphragm is the muscle that separates the chest from the abdomen. When a hole in the diaphragm occurs, it allows abdominal organs to pass through (herniate) into the chest cavity during fetal development hindering organ growth. CDH is a life-threatening condition affecting one in every 2,500-4,000 births. The most serious complication of CDH is inadequate lung development. 

Types of congenital diaphragmatic hernia

There are two types of congenital diaphragmatic hernia (CDH), Bochdalek and Morgagni. In both, organs like the stomach, liver, spleen, or intestines may move into the chest cavity causing developmental disruptions. The differences between types of CDH are the location of the hole and the cause of the hernia. 

• Bochdalek hernia. A Bochdalek hernia is a hole in the diaphragm that can occur on the right or left side. It is caused by either a malformation of the diaphragm or the intestines’ movement into the chest cavity as the diaphragm forms. Left-sided Bochdalek hernias are most common, accounting for ~80% of cases. Bochdalek hernias that occur on the right side are far less common (~10% of cases), but can lead to worse outcomes due to the liver’s movement into the diaphragm.
• Morgagni hernia. A Morgagni hernia is a hole in the middle of the diaphragm near the chest. It happens when the tendon in the middle of the diaphragm develops abnormally. Morgagni hernias are much less common than all Bochdalek hernias. 

How common is CDH?

CDH is rare and occurs in about 1 in every 2,500 newborn babies. That said, CHOC is a destination center for CDH and sees a very high volume of these patients each year. Our expert team is experienced in managing even the most severe forms of this disease.

What are the causes of a congenital diaphragmatic hernia?

There is no known cause for the development of congenital diaphragmatic hernias. There is nothing someone can do to cause or prevent their baby from developing a congenital diaphragmatic hernia. 

How is a congenital diaphragmatic hernia diagnosed?

CDH is typically diagnosed in utero during a routine prenatal ultrasound when the ultrasound shows excess amniotic fluid and/or movement of abdominal contents into the chest cavity. If this happens, your OB/GYN will refer you to a specialty center, like The Fetal Care Center of Southern California, where they’ll perform further testing to confirm your diagnosis and develop a treatment plan.

Specialty fetal centers will use more in-depth tests to confirm your diagnosis and evaluate the current state of your baby’s CDH. The results will help determine the best path of treatment based on the type of CDH, lung growth and location of abdominal organs. Follow-up tests can include:

• Fetal ultrasound to view overall anatomy and CDH measurements to determine severity
• Fetal echocardiogram to check for heart abnormalities
• Fetal MRI to provide additional information of the chest, abdomen and lung growth that cannot be obtained from the ultrasound

When can CDH be diagnosed?

Congenital diaphragmatic hernias are typically diagnosed around 16 weeks but can be detected as early as 10-12 weeks and as late as the third trimester. In rare cases, CDH will not be discovered until after your child is born. An after-birth diagnosis is usually linked to small or Morgagni-type CDH that causes difficulty breathing.

Can babies with CDH survive?

While CDH is a life-threatening illness, babies can survive with the appropriate treatment and care. It is therefore important to establish the diagnosis of CDH before birth. If your baby has been diagnosed with a diaphragmatic hernia, you should plan for a consultation with a team of pediatric CDH specialists, including a maternal-fetal medicine specialist, pediatric surgeon, fetal cardiologist, pediatric pulmonologist and neonatologist, to prepare for the birth and subsequent care of your baby.

What are the symptoms of a congenital diaphragmatic hernia?

When CDH is not diagnosed prenatally, the symptoms of a congenital diaphragmatic hernia are observable soon after birth. While they vary between each child, the most common symptoms of CDH include: 

• Breathing trouble 
• Rapid breathing (hyperventilating) 
• Rapid heart rate (tachycardia) 
• Blue skin color (cyanosis)  
• One side of the chest is larger (Abnormal Chest Development) 
• Belly looks caved-in (concave/scaphoid) 

The specific symptoms of CDH are dependent on the type of hernia, Bochdalek vs. Morgagni hernias. Babies with Morgagni hernias sometimes show no symptoms. 

Determining the Severity of CDH

The level of severity of a baby’s CDH is determined by the degree of pulmonary hypoplasia. Different measurements of your baby’s lungs can help determine the extent of pulmonary hypoplasia and the severity of their CDH. In addition, when the liver has moved into the chest, this causes less room for the lungs to grow. This usually results in more severe pulmonary hypoplasia or underdevelopment of the lungs.

Measurements used to determine lung size include:

• Lung to head circumference ratio (LHR)
• Lung area to head circumference observed to expected (O/E LHR)
• Total fetal lung volume (TFLV)
• Total fetal lung volume observed to expected (O/E TFLV)

Based on the measurements, specialists will grade the severity as mild, moderate or severe. Typically, LHR values less than 1.0 (or O/E LHR <25%) are correlated with more severe versions of CDH.

The severity of your baby’s condition along with the type of CDH (left or right side) will help our specialists determine the best treatment plan for your baby.

Right versus Left Congenital Diaphragmatic Hernia

The defect in your baby’s diaphragm can be located on the left or the right side.

Left-sided CDH, caused by a hole on the left side of the diaphragm, allows the stomach, intestines, spleen, kidneys and occasionally the liver to move into the baby’s chest. Left-sided CDH is more common than right-sided and may be less severe with a reduced chance of the liver migrating into their chest. Right-sided CDH, caused by a hole on the right side of the diaphragm, has a higher chance of movement of the liver into the chest.

However, in either condition, the movement of the liver into the chest causes a greater negative impact on your baby’s lung development. It is important that your baby, regardless of which CDH they have, has a fetal care team to ensure the best outcomes for them after birth.

What treatments are available for Congenital Diaphragmatic Hernia?

Babies with a congenital diaphragmatic hernia (CDH) can have different treatment plans depending on the severity of the case. Most times, a baby is diagnosed with CDH in utero, and during the pregnancy, a treatment plan is developed prior to giving birth.

In addition to CDH surgical repair, postnatal treatment options can include a ventilator, the NICU and/or ECMO (a heart and lung bypass machine that can be used to rest a failing heart or lung). Your baby might not need all these treatments, but it’s vital that they have immediate access to them if necessary. That is why it’s important you deliver your baby in a hospital that can provide this type of postnatal care.

At CHOC, we take a multidisciplinary approach to CDH treatment that provides you and your baby with the best possible care. Our dedicated and highly individualized clinical programs for congenital diaphragmatic hernias have led to exceptional outcomes in patient treatment, with an 88% survival rate for CDH cases (exceeding national benchmarks of 60-70%). As a national leader in pediatric healthcare services, treatment at CHOC also provides continuity in care long after CDH repair to ensure the continued health of your child. Learn more about CDH Care at CHOC.

Determining CDH Treatment

Babies with a congenital diaphragmatic hernia (CDH) can have different treatment plans depending on the severity of the case. Most times, a baby is diagnosed with CDH in utero, and during the pregnancy, a treatment plan is developed prior to giving birth. Learn more about diagnosing CDH.

In addition to CDH surgical repair, postnatal treatment options can include a ventilator, the NICU and/or ECMO. Your baby might not need all these treatments, but it’s vital that they have immediate access to them if necessary. That is why it’s important you deliver your baby in a hospital that can provide this type of postnatal care.

Learn more about CDH treatment at CHOC.

CDH Treatment After Birth

A diaphragmatic hernia can be life-threatening and requires care in a neonatal intensive care unit (NICU). After your baby is born, they will be transported to the NICU to gain stability before their repair surgery. The NICU provides babies with CDH specialty round-the-clock care from neonatologists and surgical teams.

Babies with CDH are often unable to breathe on their own at first due to underdeveloped lungs, and will need to be placed on a mechanical ventilator, a machine to assist their breathing. Ventilation levels are determined by your baby’s response to assisted breathing. Some babies will require high-frequency oscillatory ventilation that offers different breaths and pressure than the typical ventilator.

Often, babies will also have a tube placed in the nose or mouth and leading directly to their stomach. This tube will work to keep their stomach decompressed and allow the lungs room to expand while breathing. Other intravenous lines may be inserted into your baby’s hands and feet to allow blood level monitoring and administer any needed medications/fluids.

Most importantly, the NICU offers a safe space for your baby away from environmental disturbances. Due to the associated pulmonary hypertension, babies with CDH are in a very sensitive and reactive state. It’s vital that their surroundings are kept stable through low and minimized lighting, noise and handling.

If your baby does not respond to the initial effort to stabilize them or they have severe complications, they may be placed on extracorporeal membrane oxygenation (ECMO), a temporary heart and lung bypass machine. ECMO allows your baby’s heart and lungs to rest while the machine functions as their heart and lungs. It provides oxygen in the bloodstream while removing carbon dioxide and pumps blood to the body. It can be used while a baby is trying to stabilize and improve. Most of the babies who require ECMO treatment do so the day they are born.

While a specific set of guidelines determine the use of ECMO in CDH cases, the most common indicators include:

• Pulmonary hypertension
• Heart failure
• Respiratory support that could damage their lungs

Typical ECMO treatment lasts for an average of two weeks but varies depending on each CDH case. The timeline for stopping ECMO treatment is determined by a baby’s stability, lung appearance, tolerance to care, blood work and the continued presence of the above factors. When weaning a baby off of ECMO, ventilation support is often increased as ECMO is decreased, allowing your baby’s organs to take over more and more. Learn about CHOC’s center of excellence for ECMO.

CDH Repair Surgery

Surgery for CDH depends on your baby’s progress in the days following birth. When your baby’s condition has improved, the hole in the diaphragm caused by CDH will be surgically repaired. As babies with CDH are sensitive to movement, surgery may be done in the NICU to limit the stress of being transported to an operating room.

During open surgery, an incision will be made below the rib cage. Through this incision, any abdominal organs that have herniated into the chest cavity will be moved back into the abdomen. The hole in the diaphragm (hernia) is then sewn together. For babies with larger defects, the hole is closed using a muscle flap or a soft tissue patch, GORE-TEX®. This patch’s condition will continue to be monitored as the child develops.

Select patients may be candidates for thoracoscopic, or minimally invasive, surgery. If this is the case, three or more tiny incisions will be made in the chest and the repair will be completed using a special scope and small surgical instruments.

After surgery, most babies will need to remain in the NICU for continued care and monitoring. Although the abdominal organs are now in the right place, the lungs remain underdeveloped. Babies usually need to have breathing support for a period after the operation as the lungs continue to develop. Depending on your baby’s condition, after removing the ventilator, they may still need oxygen and medication to help with breathing for weeks, months or years.

What happens if CDH goes untreated?

If left untreated, CDH can lead to many life-threatening conditions. Two major problems associated with CDH are pulmonary hypoplasia and pulmonary hypertension. Pulmonary hypoplasia is a small lung that is sometimes inadequate to bring enough oxygen to a baby’s body. Pulmonary hypertension is the abnormal tight squeezing of the blood vessels in the lung. This causes the baby’s heart to pump extra hard against these tightly constricted blood vessels. When untreated, both pulmonary hypoplasia and pulmonary hypertension can lead to hypoxia (not enough oxygen for the body), heart dysfunction and sometimes even death.

What does the recovery from CDH surgery look like?

The recovery process and timeline after CDH surgery is different for every baby and depends on the severity of their condition and response to treatment. Typically, a baby’s hospital stay after CDH surgery will fall between 8-12 weeks. This timeline may be extended for babies who are treated with ECMO or experience persistent pulmonary hypertension. While this recovery timeline seems long, babies with CDH are recovering from more than just their surgical procedure.

Although their abdominal organs are moved into the right place during surgery, their lungs remain underdeveloped, so babies will usually require breathing support from a ventilator for a period after the operation. Babies who need ventilator support will stay in the NICU, where recovery will focus on weaning off the ventilator. As the lungs develop, babies are gradually taken off the ventilator, and at this stage they are considered stable. They will be moved to a surgical hospital room where their recovery will focus on weight gain and developing their feeding and breathing skills.

When a baby is ready to start feeding, the activity is closely supervised by a feeding specialist team because it is the first time the baby’s stomach and intestines have received food. During this process, nutritional needs of the baby will continue to be supplemented by an IV. When a baby can gain weight only by oral feedings, they are ready to head home.

When your baby is discharged from CHOC, these follow-up appointments will be scheduled for you:

• Pediatrician visit within 1-3 days
• Surgeon appointment within 2-3 weeks
• Appointments with any other specialists on your baby’s treatment team

CDH Surgery Follow-Up Care at Home

After babies with CDH are sent home, they require multidisciplinary follow-up care to ensure they are meeting their developmental milestones. While some babies will only need periodic follow-up appointments, about 15-20% of babies will continue to require oxygen support or occasionally a temporary feeding tube at home. Our team of specialists will collaborate to develop the best follow-up care plan for your baby and make sure your family is comfortable with all home follow-up care procedures and treatments.

• Oxygen support. Your baby’s breathing will continue to be supported by oxygen from a tank through a tube in their nose. The specifics of your baby’s oxygen treatment will be determined before sending them home. Before discharge, you’ll be outfitted with the proper equipment and trained on using the equipment and proper dosage.
• Feeding tube. Your baby’s feeding will continue to be supported by a tube “button” that goes directly into the stomach or intestine to assist their nutrition and growth as they develop feeding skills. The specifics of your baby’s nutritional treatment will be determined before sending them home. Before discharge, you’ll be outfitted with the proper equipment, trained on using the equipment and coached on proper feeding schedule/volume. Learn more about caring for an infant with a feeding tube.

Are there any complications from CDH I should be aware of for my baby?

A congenital diaphragmatic hernia can hinder the proper development of the lungs and digestive system. The lungs, digestive system, and diaphragm all grow in utero at the same time. When a CDH allows abdominal organs to move into the chest cavity during development, the space becomes crowded and causes the lungs to stop growing or grow incorrectly. This underdevelopment of the lungs is known as pulmonary hypoplasia. When a baby’s lungs do not develop properly, they will have trouble breathing after birth.

The intestines may also not develop properly if they do not receive enough blood while growing. A good blood supply is necessary for intestines to develop correctly, be healthy and function properly.

Every CDH case is different, the severity and complications from a congenital diaphragmatic hernia are dependent on the size and location of the hole in the diaphragm. The size of the hole determines how much abdominal organ movement into the chest cavity occurs. The more that is allowed to move into the chest, the less space there is for the lungs to grow and vice versa. The location of the hole also determines what organs can pass up into the chest. When larger organs have the ability to move into the diaphragm the lungs have less space for growth. Learn more about development complications for children with CDH.