A diaphragmatic hernia is a birth defect. It happens in a baby during pregnancy.
In this condition, there’s an opening in your baby’s diaphragm. This is the muscle that separates the chest cavity from the abdominal cavity. Some of the organs that are normally found in your baby’s belly move up into his or her chest cavity through this opening. This is a life-threatening problem.
The 2 most common types of diaphragmatic hernia are:
- Bochdalek hernia. This involves the side and back of the diaphragm. The stomach, liver, spleen, or intestines move up into your child’s chest cavity.
- Morgagni hernia. This involves the front part of the diaphragm. The liver or intestines move up into your child’s chest cavity.
Your child’s diaphragm forms between weeks 4 to 12 in pregnancy. The esophagus and the intestines also form at this time. The esophagus is the tube that connects the throat to the stomach.
In a Bochdalek hernia, your child’s diaphragm may not form as it should. Or your child’s intestine may get trapped in the chest cavity when the diaphragm is forming. This type of diaphragmatic hernia makes up 8 or 9 in 10 cases.
In a Morgagni hernia, the tendon that should form in the middle of the diaphragm doesn’t develop as it should. This type of the condition makes up 1 in 50 cases.
In both cases, the diaphragm and digestive tract don’t form as they are supposed to.
Diaphragmatic hernia is caused by many factors. It happens because of genes or because of something in the environment. This means that genes passed down from parents may play a role in this condition. Unknown environmental factors may also play a role.
Symptoms can happen a bit differently in each child.
The symptoms of a Bochdalek diaphragmatic hernia show up soon after your baby is born. Symptoms may include:
- Trouble breathing
- Fast breathing
- Fast heart rate
- Blue color of the skin (cyanosis)
- Abnormal chest development. One side of the chest is larger than the other.
- Belly looks caved in (concave or scaphoid)
A baby born with a Morgagni hernia may not have any symptoms.
The symptoms of this condition may be similar to symptoms of other health problems. Make sure your child sees his or her healthcare provider for a diagnosis.
A healthcare provider may spot this condition on an ultrasound during pregnancy.
After birth, your baby's healthcare provider will do an exam. Your child may also need a chest X-ray. This will show any issues in his or her lungs, diaphragm, and intestines.
Your child may also need the following tests:
- Arterial blood gas test. This is a blood test. It checks your baby’s breathing ability.
- Blood test for chromosomes. This shows if your baby has a gene (genetic) problem.
- Ultrasound of the heart (echocardiogram)
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
Neonatal intensive care unit (NICU)
Babies with this condition need care in a NICU. These babies cannot breathe well on their own because their lungs are not fully developed. Most babies will need to use a breathing machine (mechanical ventilator). This can help them breathe.
Extracorporeal membrane oxygenation (ECMO)
Some babies with severe problems need to be put on a heart/lung bypass machine (ECMO). ECMO does the job that the baby’s heart and lungs should be doing. It puts oxygen in your baby’s bloodstream. It also pumps blood to your baby’s body. ECMO may be used temporarily. Your baby may need it until his or her condition gets better.
Once your baby is in good enough condition, he or she will need to have surgery. The goal of surgery is to fix the diaphragmatic hernia. Your baby’s surgeon will move your baby’s stomach, intestine, and other abdominal organs. The surgeon will take them from the chest cavity and move them back to the abdominal cavity. The surgeon will also fix the hole in your baby’s diaphragm.
Many babies will need to stay in the NICU after surgery. This is because your baby’s lungs will still be underdeveloped. Your child will still need breathing support for a while. After your baby is done using the breathing machine, he or she may still need oxygen or medicine to help with breathing. Your child may need this for weeks, months, or even years.
In this condition, your baby’s heart, lungs, and abdominal organs are all in his or her chest cavity. This doesn’t give your baby’s lungs enough space to form like they should. This can cause your baby’s lungs to be underdeveloped. This is called pulmonary hypoplasia.
Underdeveloped lungs can make it hard for a baby to breathe right after birth. This is why a diaphragmatic hernia is a life-threatening illness.
Healthy lungs have millions of small air sacs (alveoli). These look like balloons filled with air. In pulmonary hypoplasia, the following happen:
- There are fewer air sacs than normal.
- The air sacs that are there can only partially fill with air.
- The air sacs deflate easily. This is because of a lack of a lubricating fluid called surfactant.
When this happens, your baby isn’t able to take in enough oxygen to stay healthy.
Your baby’s intestines may also not form as they are supposed to.
Babies born with this condition can have long-term health problems. They often need regular follow-up care after they go home from the hospital.
Many babies will have long-term (chronic) lung problems. They may need oxygen and medicine to help them breathe. They may need this for weeks, months, or years.
Babies often have reflux. In this condition, acid and fluids from your baby’s stomach move up into the esophagus. This can cause heartburn, vomiting, feeding problems, or lung problems. Your child’s healthcare provider may give him or her medicine to help.
Some babies will have trouble growing. This is called failure to thrive. Children with serious lung problems are most likely to have growing problems. Because of their illness, they may need more calories than a normal baby to grow and get healthier. Reflux can also cause feeding problems. This can keep a baby from eating enough to grow.
Babies with this condition may also have developmental problems. They may not roll over, sit, crawl, stand, or walk at the same time as healthy babies. These children may need physical, speech, and occupational therapy. This can help children gain muscle strength and coordination.
Some babies may have hearing loss. Your child should have a hearing test before he or she leaves the hospital.
You’ll work closely with your baby’s healthcare team. They’ll make a care plan for your baby. Ask your child's healthcare provider about your child’s outlook.
Your child’s healthcare team will tell you how to care for your baby before he or she leaves the hospital. Call your child’s healthcare provider if your child has new symptoms or if you have questions.
- A diaphragmatic hernia is a birth defect. In this condition, there’s an opening in your baby’s diaphragm. This allows some of the organs that should be found in your child’s belly to move up into the chest cavity.
- This condition can cause serious breathing problems. It is life-threatening.
- Babies will need to stay in the NICU. They will need to be put on a breathing machine to help their breathing.
- Once your baby is in good enough condition, he or she will need to have surgery. The goal of surgery is to fix the diaphragmatic hernia.
- Babies born with this condition often have long-term health issues. They need regular follow-up care after they go home from the hospital.
Tips to help you get the most from a visit to your child’s healthcare provider:
- Know the reason for the visit and what you want to happen.
- Before your visit, write down questions you want answered.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
- Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
- Ask if your child’s condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if your child does not take the medicine or have the test or procedure.
- If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.
January 16, 2018
Congenital diaphragmatic hernia. Kotecha S. European Respiratory Journal. 2012;39:820-29., Congenital diaphragmatic hernia: Prenatal diagnosis and management. UpToDate, Congenital diaphragmatic hernia in the neonate. UpToDate, Short-term mechanical circulatory assist devices. UpToDate, McInerny T. American Academy of Pediatrics Textbook of Pediatric Care. 2009;912-14.
Lehrer, Jenifer, MD,Freeborn, Donna, PhD, CNM, FNP