Congenital Diaphragmatic hernia (di-a-frag-mat-ic), or CDH, is a rare congenital (happening 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 did not grow together normally, leaving a hole. This can occur on the left or right side of the chest, or, very rarely 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 the intestines or other organs take up space in the chest, it makes it difficult 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 difficulty breathing right after birth. Babies with CDH require immediate evaluation and support in the delivery room from an experienced neonatal resuscitation team.
The exact cause of congenital diaphragmatic hernia is not known. Studies show that approximately 1 in every 2,500 babies will be 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 remains down in the abdomen.
Congenital diaphragmatic hernia may be found during routine prenatal ultrasound but sometimes is discovered after the baby is born. If your doctor suspects a problem, additional tests may be ordered.
These may include:
• Fetal echocardiogram: A fetal echocardiogram is a special ultrasound used by a pediatric heart doctor (cardiologist) to look closely at your baby’s heart and surrounding blood vessels
• Fetal MRI (magnetic resonance imaging): This type of imaging gives more detailed pictures of your baby’s organs, including the position of the liver. It can also help estimate the size of the lungs. It may also detect problems with other organs that were not seen on routine prenatal ultrasound.
Sometimes CDH may not be diagnosed prenatally. Signs of CDH after birth may 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: Your doctor can take a sample of your blood to look for copies of fetal (baby) DNA. This is only a screening test. A positive result means that there could be problems with the DNA. This should be confirmed with another test to be sure of the result. Other testing can be done before or after birth depending on your need and the needs of the baby.
• Amniocentesis: A small sample of the amniotic fluid that surrounds the baby in the womb is taken and tested for DNA 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).
If a test finds you are carrying a baby with congenital diaphragmatic hernia, you will continue to receive care from your obstetrician. Your obstetrician may refer you to the Ohio Fetal Medicine Collaborative (OFMC), which will help you connect with a team of fetal medicine experts.
There, you will meet with a multidisciplinary team including neonatologists (doctors who specialize in treating newborns), pediatric surgeons (doctors who perform surgery), and nurses to learn more about your baby’s care after he or she is 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 obstetrician. Contact your doctor right away if you have any concerns.
At the delivery hospital, a neonatologist (a doctor who specializes in treating newborns) will manage the care of your baby. 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).
• A breathing tube will be placed immediately after delivery to help your baby breath. The ventilator is the breathing machine that will provide 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, in order to reduce the pressure of these organs on the lungs.
• Special IVs will be placed in your baby’s umbilical cord, wrist, or foot. The IVs are used to monitor blood pressure and provide medications, including fluids to prevent dehydration, and medications for infection, sedation, and to support blood pressure.
• Your baby will be immediately transferred to the Children’s Hospital neonatal intensive care unit (NICU) for further 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.
While all babies with CDH will require surgery, surgery is not performed immediately. It is very important to stabilize the baby’s breathing, and manage the high blood pressure in the lungs before going to surgery. Surgery may occur as early as 2-3 days after birth, or as late at 4-6 weeks after birth, but is typically around 1-2 week after birth.
• There are several different medicines your baby’s doctor may use to try and lower blood pressure in the lungs.
• Sometimes babies need a blood transfusion. 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 agitated. The medical staff will give medicines to help reduce any pain or discomfort your baby may be having.
• If your baby’s lungs are not working well enough to support the body, a special treatment called ECMO may be offered. 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 intestines have healed from surgery. A special IV called a PICC (peripherally inserted central catheter) will be used to give your baby IV nutrition called TPN (total parenteral nutrition). TPN has all of the calories and nourishment needed for your baby to grow.
Once the baby is stable he or she will have surgery. It may be days or weeks before surgery can be done. While surgery is necessary, it is not needed emergently. 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 incision (cut), 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 he or she may use an artificial patch (such as Goretex) to close the hole in the diaphragm.
After surgery, your baby will continue to receive care in the NICU. Your baby will need to be on a breathing machine until he or she is fully recovered from surgery, and the lungs are able to support breathing on their own.
Other treatments your baby will probably need after surgery are:
• Antibiotics to prevent infection
• Fluids and nutrients given through the PICC
• Oxygen. Some babies may need to go home with oxygen
• Medications to support blood pressure in the body, and to lower blood pressure in the lungs
• Pain medicines as needed
• A chest tube may be placed 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 several weeks. Your baby will not be able to eat 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 his/her own. Often babies will need CPAP (continuous positive airway pressure) after removing the breathing tube. CPAP provides high flow air/oxygen via a nose mask to help keep the lungs inflated. If your baby is not able to wean from the ventilator, a tracheostomy tube (Trach) may be needed to provide longer term ventilator support.
Feedings are started once the intestines are fully healed after surgery. It may take several weeks for the intestines to heal and start to work. Often feedings will need to be given first through a feeding tube. Your baby will be started off with small amounts of breast milk or formula, and the amount will be increased gradually over time. 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 and only requiring low amounts of oxygen flow by nasal cannula. Sometimes it can take babies some time to learn how to breastfeed or bottle feed. Your baby can continue to receive feeds though the NG tube while learning this skill.
Some babies with CDH, particularly those with the sickest lungs, may require a long term feeding tube called a gastrostomy tube (G-tube). This tube is surgically placed through the wall of the belly into the stomach. Some babies may need to go home with this type of tube.
What is the greatest risk to my baby?
Sometimes, even though the doctors and nurses do everything possible, the baby’s lungs are too small and underdeveloped for the baby to survive. 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 will depend on whether your baby is born with other health issues or if there are complications after surgery. It may be several months or more depending on your child’s 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 pediatrician to take care of all the routine checkups, immunizations 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, he or she may require more frequent visits.
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 require ECMO. Physical and occupation therapy and early intervention may be needed to help your child.
Babies may develop a recurrence of their hernia, especially those that require a patch. This may require another surgery in the future.
CHERUBS (Support Group)
CHERUBS was created to help families of babies born with Congenital Diaphragmatic Hernia by providing support services, promoting research and raising awareness. http://www.cherubs-cdh.org/