What is Congenital Diaphragmatic Hernia?
Congenital Diaphragmatic Hernia (di-a-frag-mat-ic), or CDH, is a rare congenital (occurs before birth) condition.
Normally, the diaphragm forms as a thin muscle that separates the chest from the belly. It moves up and down as you breathe to help the lungs fill and empty with air. Typically, the diaphragm is fully formed by the end of the first trimester. In babies with CDH, the muscles in the diaphragm do not grow together, leaving a hole. This can occur on the left or right side of the chest. It is rare that it happens on both sides. 80% of the holes in the diaphragm occur on the left side of the chest. The hole allows the intestines and other organs (stomach, liver) to move up into the baby’s chest. When this happens, it makes it hard for the lungs to grow and develop normally during the rest of pregnancy.
Babies born with CDH can have small, underdeveloped lungs (pulmonary hypoplasia), as well as reduced blood flow to the lungs caused by high blood pressure in the lungs (pulmonary hypertension). These 2 problems, pulmonary hypoplasia and pulmonary hypertension, cause babies with CDH to have a lot of trouble breathing right after birth. Babies with CDH need immediate attention in the delivery room from an experienced neonatal resuscitation team.
What Causes Congenital Diaphragmatic Hernia?
No one knows the exact cause of congenital diaphragmatic hernia. Studies show that 1 in every 2,500-5,000 babies are born with this problem. It is congenital, meaning that it happens before your baby is born. The survival rate is approximately 75%. Survival is usually better when the liver stays in the abdomen.
How is Congenital Diaphragmatic Hernia Diagnosed?
Congenital diaphragmatic hernia may be found during routine prenatal ultrasound. Sometimes is it found after the baby is born. If the condition is suspected, your physician may refer you to a fetal center for a comprehensive evaluation and or order additional testing, including:
Anatomy ultrasound: a high-resolution ultrasound to confirm the diagnosis and assess for other anomalies.
Fetal echocardiogram: a specialized ultrasound to evaluate the baby’s heart structure and function.
Fetal MRI (magnetic resonance imaging): a non-invasive imaging technique to help provide additional details of the baby’s organs that may not have been visualized on ultrasound.
What are the Symptoms of Congenital Diaphragmatic Hernia?
CDH may not be diagnosed before your child is born. Signs of CDH after birth can include:
fast breathing or hard breathing (using extra muscles to help breath)
a very flat belly and “barrel shaped” chest
cyanosis (bluish color of skin due to low oxygen levels)
Some congenital conditions are caused by changes in DNA, or a baby’s genetic make-up. The doctors may suggest genetic testing to find out more about your baby’s DNA. About 30% of babies with CDH may have an underlying genetic problem or syndrome.
Cell-Free Fetal DNA testing: A screening test where a sample of your blood is taken to look for copies of fetal (baby) DNA. A positive result means that there could be problems with the baby’s DNA. It should be confirmed with another test. A normal result does not mean that there are no underlying genetic problems. Other testing can be done before or after birth depending on your needs and the needs of the baby.
Amniocentesis: A medical procedure in which a small amount of amniotic fluid is taken and studied to screen for genetic problems. This test is usually done in the middle of the second trimester. An amniocentesis can be used to confirm findings on the cell-free fetal DNA test.
Testing the baby: After birth, a test is done with a sample of your baby’s blood to look for chromosome problems. This is called either a “karyotype” (basic chromosome study), or microarray (a more detailed look at smaller sections of DNA).
Care During Your Pregnancy
If a test finds you are carrying a baby with congenital diaphragmatic hernia, you will keep getting care from your obstetrician (OB/GYN), who may refer to a tertiary care centre. There, you will meet with a multidisciplinary team including Maternal-Fetal medicine subspecialists, neonatologists (doctors who specialize in treating newborns), paediatric and fetal surgeons (doctors who perform surgery), and nurses to learn more about your baby’s care after they are born. Nurse coordinators will help answer your questions and concerns, guide you through your pregnancy, and prepare you for what to expect.
Your doctor will watch your pregnancy closely. You will deliver your baby at a hospital that is ready to care for high-risk babies like yours. You should discuss your plans for labor and delivery with your OB/GYN. Contact your doctor right away if you have any concerns.
Care After Your Baby is Born
At the delivery hospital, a neonatologist (a doctor who specializes in treating newborns) will manage your baby’s care. The neonatologist will assess your baby’s breathing and heart rate, and examine the baby for other problems.
Your baby will briefly receive care in your delivery hospital’s neonatal intensive care unit (NICU).
Your baby will get a breathing tube right after delivery to help them breath. The ventilator is the breathing machine that will provide the lung support.
A tube will be put through your baby’s nose (nasogastric, NG) or mouth (orogastric, OG) into the stomach. This tube helps to keep the stomach and intestines empty. This reduces pressure of these organs on the lungs.
Your baby will get a special IVs in their umbilical cord, wrist, or foot. The IVs are used to watch blood pressure and provide medicines. This includes fluids to prevent dehydration, and medicines to prevent infection, help sedate your baby and support blood pressure.
Your baby will be transferred right away to the Nationwide Children’s Hospital neonatal intensive care unit (NICU) for their care.
We strongly encourage you to start pumping breastmilk for your baby right away. While your baby will not be able to take any milk until after surgery, it is important to start pumping to establish your milk supply.
Breastmilk is best for all babies.
How is Congenital Diaphragmatic Hernia Treated?
While all babies with CDH will need surgery, surgery is not done right away. It is very important to make sure the baby’s breathing is stable and manage the high blood pressure in the lungs before going to surgery. Surgery may be done as early as 2 to 3 days after birth, or as late at 4 to 6 weeks after birth. It is typically done 1 to 2 weeks after birth.
There are a few medicines your baby’s doctor may use to try and lower blood pressure in the lungs.
Sometimes babies need a blood transfusion (a process to give your baby more blood). Blood transfusions can help support blood pressure and help deliver oxygen to the body .
Ultrasounds of the heart, kidneys and brain will be done to look for any other problems in these organs.
Babies with diaphragmatic hernia are very sensitive to noise, pain, and easily upset. The medical staff will give medicines to help reduce any pain or discomfort your baby may feel.
If your baby’s lungs are not working well enough to support the body, a special treatment called extracorporeal membrane oxygenation (ECMO) may be needed. This is a heart-lung bypass machine that is a way to let the baby’s lungs rest and heal for a short time. The doctors and nurses will talk to you about ECMO if it is needed.
Your baby will not be able to drink breast milk or formula until after their intestines have healed from surgery. A special IV called a peripherally inserted central catheter (PICC) will be used to give your baby IV nutrition, called total parenteral nutrition (TPN). TPN has all of the calories and nourishment needed for your baby to grow.
Once the baby is stable, they will have surgery. While surgery is needed, it may not be done for days or weeks. When your baby is ready for surgery, the surgeon will decide the best way to move the intestines back into the belly and close the hole in the diaphragm to keep everything in place. This may involve one larger cut (incision), or several smaller incisions, depending on what the surgeon thinks is safest. If the hole is too big and the surgeon cannot sew the diaphragm together, they may use an artificial patch (such as Gore-Tex®) to close the hole in the diaphragm.
Care After Surgery
After surgery, your baby will keep getting care in the NICU. Your baby will need to be on a breathing machine until they are fully recovered from surgery and they can breathe on their own.
Other treatments your baby will most likely need after surgery are:
Antibiotic medicine to prevent infection
Fluids and nutrients through the PICC
Oxygen. Some babies need to go home with oxygen
Medicines to support blood pressure in the body and lower blood pressure in the lungs
Pain medicines as needed
A chest tube to help drain fluid from the incision.
The NG or OG tube will stay in place until your baby’s intestines begin to work properly. This may take a few weeks. Your baby will not be able to eat by mouth until the intestines have healed.
The breathing tube will stay in place until the lungs are working well enough to support the baby breathing on their own. Often babies will need continuous positive airway pressure (CPAP) after the breathing tube is removed. CPAP provides high flow air and oxygen through a nose mask to keep the lungs inflated. If your baby is not able to come off of the ventilator, a tracheostomy tube (trach) may be needed to provide longer term ventilator support.
Feedings are started once the intestines are fully healed. It may take a few weeks for the intestines to heal and start to work. Often your baby will be fed first through their feeding tube. Your baby will be started off with small amounts of breast milk or formula, and the amount will be increased slowly. When your baby is taking enough breast milk or formula to grow and gain weight, the PICC line will be removed.
Babies cannot breastfeed or take bottles until they are:
off the ventilator or CPAP
require low amounts of oxygen flow by nasal cannula. It may take your baby some time to learn how to breastfeed or bottle feed. This is normal.
Your baby can keep getting food though the NG tube while they learn this skill.
Some babies with CDH, especially those with the sickest lungs, may need a long-term feeding tube called a gastrostomy tube (G-tube). This tube is placed through the wall of the belly into the stomach during a surgery. Some babies need to go home with this type of tube.
Sometimes, even though the doctors and nurses do everything they can, the baby’s lungs are too small and underdeveloped for the baby to live. Unfortunately, despite the doctors' and nurses' best care, about 2 or 3 out of 10 babies with CDH die in the newborn period. The medical staff will always keep you informed about your baby’s condition and are available to answer any questions or concerns.
The total length of time your baby will stay in the hospital will vary. It depends on whether your baby is born with other health issues or if there are problems after surgery. Your baby may be in the hospital for a few months or more depending on their recovery.
Your baby will need regular follow-up visits with the team to measure growth, development, and nutrition. You will want to find a local paediatrician to take care of all the routine checkups, vaccines and doctor’s visits. The program coordinator can help you if needed. You will also need to follow up with your surgeon, and the neonatal follow up clinic. If your baby goes home with a feeding tube or oxygen, they may need follow up more often.
Babies with CDH are at risk for ongoing problems with the lungs, including asthma and respiratory infections. They are also at risk for ongoing problems with feeding, gastrointestinal reflux, and developmental delays. These risks are higher in babies that need ECMO. Physical and occupation therapy and early intervention may be needed to help your child.
Your baby’s hernia may recur. This is especially common with those that require a patch. In this case, they may need more surgery in the future.
Diaphragmatic Hernia in Children
What Are Diaphragmatic Hernias In Children?
A diaphragmatic hernia is a birth defect that occurs in about 1 in 2,500 newborns. 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 their chest cavity through this opening. It is a life-threatening problem.
The 2 most common types of diaphragmatic hernia are:
· Bochdalek hernia. This type 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 type involves the front part of the diaphragm. The liver or intestines move up into your child’s chest cavity.
What Causes A Diaphragmatic Hernia In A Child?
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 about 8 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 makes up 1 in 50 cases.
In both types, 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. That means that genes passed down from parents may play a role in this condition. Unknown environmental factors may also play a role.
What Are The Symptoms Of A Diaphragmatic Hernia In A Child?
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 colour of the skin (cyanosis)
· Abnormal chest development (1 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 their healthcare provider for a diagnosis.
How Is A Diaphragmatic Hernia Diagnosed In A Child?
A healthcare provider may spot this condition on an ultrasound during pregnancy. If so, other tests such as a fetal MRI can be done on the developing baby to get more information.
After birth, your baby's healthcare provider will do an exam. Your child may also need a chest X-ray. This test will show any issues in your child's lungs, diaphragm, and intestines.
Your child may also need the following tests:
· Arterial blood gas test. This blood test checks how your baby's lungs are working and how well your baby is breathing.
· Blood test for chromosomes. This test shows if your baby has a gene (genetic) problem.
· Ultrasound of the heart (echocardiogram). This test shows if your baby has problems with the heart and valves.
How Is A Diaphragmatic Hernia Treated In A Child?
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). It 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 their condition gets better.
Once your baby is in good enough condition, your child 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, they may still need oxygen or medicine to help with breathing. Your child may need this for weeks, months, or even years.
What Are Possible Complications Of A Diaphragmatic Hernia In A Child?
In this condition, your baby’s heart, lungs, and abdominal organs are all in the chest cavity. As a result, your baby’s lungs don't have enough space to form like they should. It can cause your baby’s lungs to be underdeveloped. This condition is called pulmonary hypoplasia.
Underdeveloped lungs can make it hard for a baby to breathe right after birth. It's 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 happens:
· There are fewer air sacs than normal.
· The air sacs that are there can only partially fill with air.
· The air sacs deflate easily because of a lack of a lubricating fluid (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.
How Can I Help My Child Live With A Diaphragmatic Hernia?
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 treatment 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. It can cause heartburn, vomiting, feeding problems, or lung problems. Your child’s healthcare provider may give your child 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. It 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. It can help them gain muscle strength and coordination.
Some babies may have hearing loss. Your child should have a hearing test before leaving 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.
When Should I Call My Child's Healthcare Provider?
Your child’s healthcare team will tell you how to care for your baby before they leave the hospital. Call your child’s healthcare provider if your child has new symptoms or if you have questions.
Key Points About A Diaphragmatic Hernia In Children
· A diaphragmatic hernia is a birth defect. In this condition, there’s an opening in your baby’s diaphragm. It 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.