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:
Sometimes CDH may not be diagnosed prenatally. Signs of CDH after birth may include
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.
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.
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.
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:
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/