Congenital Diaphragmatic Hernia: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Congenital Diaphragmatic Hernia?
A pediatric surgeon (a surgeon for children) and a neonatologist (a newborn baby doctor) care for a baby with this hole in the diaphragm. It is a birth defect. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is congenital diaphragmatic hernia?
Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm is the large muscle that separates the chest from the abdomen. Congenital means the problem is present at birth. The hole lets organs from the belly, such as the intestines and stomach, move into the chest. This can crowd the heart and lungs. It can leave the lungs underdeveloped, and this can cause life-threatening breathing problems. Researchers estimate that about 1 in every 3,030 babies in the United States has it at birth.
Symptoms
Newborns can have trouble breathing at birth. In 5 to 10 percent of affected people, signs appear later in life. Later signs may include breathing problems or belly pain from the intestine pushing into the chest. In about 1 percent of cases there are no symptoms. It may be found by chance when imaging is done for other reasons.
Causes and who gets it
The cause in most babies is unknown. In 10 to 15 percent of affected people, the hernia is part of a syndrome that affects many body systems. More than 80 percent of people with it have no known genetic syndrome or chromosome problem. About half of newborns with it also have other problems, such as defects of the brain, heart, and intestines. Things in the environment before birth may also raise the risk, but none have been identified.
A baby who has only this problem and no other major birth defects is called isolated. Isolated congenital diaphragmatic hernia is rarely inherited. In almost all cases, only one person in a family is affected.
How doctors diagnose it
Most often, the diagnosis is made before the baby is born. An ultrasound makes a picture of the diaphragm and lungs to look for problems. In some cases, ultrasounds during pregnancy do not show the hernia. Then providers may make the diagnosis at birth after they see the baby has trouble breathing. A chest x-ray can show if organs that are normally in the belly are in the chest. It can also show if the lungs look smaller than normal or are pushed to one side.
Treatment
Surgery is needed soon after the baby is born to repair the hernia. Before surgery, babies usually need a breathing tube and a stay in a neonatal intensive care unit (NICU). Many babies will need ECMO, a pump that moves blood through an artificial lung.
The surgery is done while the child is under general anesthesia, which means asleep and not able to feel pain. In less severe cases, the surgery can be done using smaller incisions in the chest. If the hole is small, it may be repaired with stitches.
Risks of the surgery include breathing problems, which may be severe. Other risks are bleeding, a collapsed lung, infection, reactions to medicines and lung problems that do not go away. After surgery, the baby will need continued help to breathe until the lungs recover and expand. Nearly all infants with CDH have reflux when they eat. Some babies need to be on a feeding tube for a long time to help them get enough calories to grow.
When to see a doctor
Call 911 or go to the emergency room if a child has trouble or abnormal breathing, or bluish or grey skin. A diaphragmatic hernia can be life threatening, and most babies with CDH are very ill. Babies known to have CDH should be born in a center with pediatric surgeons and neonatologists. The hole could open up again as the baby grows. Doctors must watch these babies closely.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Babies who have had a repair need to be watched closely as they grow. Some babies have problems crawling, walking, talking and eating. They need to see physical or occupational therapists.
Common questions
Is congenital diaphragmatic hernia life threatening?
Yes, it can be life threatening. Most babies with CDH are very ill. Usually the outlook is good for infants who have well-developed lung tissue and no other problems.
How common is congenital diaphragmatic hernia?
It is rare. Researchers estimate that about 1 in every 3,030 babies in the United States has it.
Can congenital diaphragmatic hernia be found before birth?
Yes, it is usually found before the baby is born. An ultrasound makes a picture of the diaphragm and lungs.
Does congenital diaphragmatic hernia need surgery?
Yes, surgery is necessary to repair it soon after the baby's birth. After surgery, the baby will need continued help to breathe until the lungs recover and expand.
Is congenital diaphragmatic hernia passed down in families?
Usually not, when a baby has only this problem and no other major birth defects. In almost all cases, only one person in a family is affected.
Sources
- MedlinePlus Genetics - Congenital diaphragmatic hernia
- MedlinePlus - Congenital diaphragmatic hernia repair
- Centers for Disease Control and Prevention - Diaphragmatic Hernia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
