Congenital diaphragmatic hernia (CDH) is a medical condition that some babies are born with. It occurs when a baby’s diaphragm (the muscle that helps us breathe in and out) doesn’t close all the way. This leaves an abnormal opening between the chest and abdomen.
Usually, the diaphragm acts as a wall. It separates the organs inside the belly from the organs in the chest. But when there is a hole in the diaphragm, abdominal organs can move up into the chest. These organs may include the stomach, intestines and liver. They press against one lung and affect its growth and development. The other lung is affected, too. As a result, babies with CDH may have short- or long-term problems with breathing, feeding, growth and development.
CDH can happen on either side of the diaphragm. About 83% of babies with CDH have a left diaphragmatic hernia. This condition may allow the stomach, intestines or liver to move up into the baby’s chest. A right diaphragmatic hernia almost always allows the liver to move up into the chest. Rarely, CDH occurs on both sides of the diaphragm.
CDH occurs in 1 out of every 3,000 births. Most cases of CDH are diagnosed before the baby is born through prenatal imaging. Cases of CDH are categorized as mild, moderate or severe, depending on the size of the diaphragm abnormality and the degree of organ displacement and other health complications involved.
Scientists aren’t sure why some babies develop CDH and others don’t. A baby’s risk of CDH is slightly higher if their parent or sibling had it, but the condition usually is not inherited.
Researchers believe that a combination of factors may cause CDH. These may include environmental circumstances, including a mother’s history of smoking, alcohol use or being underweight.
In 10% to 15% of cases, CDH can be linked to a genetic disorder caused by a chromosomal abnormality, such as Down syndrome or Pallister-Killian syndrome. When this happens, the child may have more health complications in addition to those specific to CDH. An amniocentesis (taking a fluid sample from the sac that surrounds the baby) can be done during pregnancy if the mother wishes to determine if there are any genetic causes for the abnormality.
Since CDH prevents the lungs from growing and developing correctly, breathing problems after birth are common in children with this condition. Babies born with CDH often have the following symptoms:
CDH can be isolated, meaning it is the child’s only major health problem. However, CDH can cause other problems and affect other organs besides the lungs. The most commonly affected organs are the heart, kidneys, intestines and brain.
Longer-term complications of CDH may include:
In most cases, CDH is first noticed during a routine ultrasound during pregnancy. Then extra tests are usually done to confirm the CDH diagnosis and determine its severity. These tests include:
Treatments for CDH depend on several factors. These include how well the baby’s lungs work and whether they also have other medical problems.
Some babies begin treatment while they’re still in their mother’s womb. Others don’t need treatment until after birth.
Cincinnati Children’s offers a special type of surgery for babies with moderate to severe CDH. This procedure is called fetoscopic endoluminal tracheal occlusion (FETO). It’s performed in utero (before the baby is born).
During FETO, a fetal surgeon makes a small incision (cut) in the mother’s belly and uterus. The surgeon then guides a flexible, hollow tube (endoscope) inside the uterus and into the baby’s trachea (windpipe). A tiny balloon attached to the endoscope expands and is left inside the trachea for four to six weeks.
Because babies receive oxygen through their mother’s placenta, this balloon doesn’t interfere with the baby’s breathing while in utero. Instead, it blocks a special fluid from leaving the baby’s lungs. It’s thought that when this fluid builds up, it helps boost lung growth.
During the extended FETO treatment, doctors will need to conduct frequent prenatal imaging scans on expectant mothers to monitor the baby’s lung development and overall growth. These will occur every other week once the mother reaches 28 weeks of pregnancy, increasing to weekly scans after week 32.
Once the baby reaches 32-34 weeks of growth, doctors will remove the balloon to allow the baby’s lungs to continue to grow on their own.
Cincinnati Children’s is one of the few hospitals in the country that offer a special type of delivery for babies with severe CDH.
This birthing approach is called “ex utero intrapartum treatment-to-extracorporeal membrane oxygenation,” or EXIT-to-ECMO. It’s a type of cesarean delivery (C-section) where the baby is removed from the womb and then immediately placed on a heart and lung bypass machine called an ECMO.
As an advanced life support system, ECMO takes over the work of the baby’s heart and lungs to keep the baby alive until the baby’s organs stabilize and can work on their own.
Babies with severe CDH (who don’t have FETO) tend to have survival rates between 11-40%. An EXIT-to-ECMO delivery may improve their survival chance to 65%.
When babies are born with CDH, a breathing tube is placed right away so that they can receive breathing support through a ventilator (breathing machine) right after birth. Babies with the most severe lung or heart impairments may be placed on ECMO for advanced support until their lungs develop and their breathing stabilizes.
Most babies with CDH need surgery to repair the hole in their diaphragm. This surgery may take place days or weeks after birth, depending on the baby’s overall health.
During the procedure, a surgeon moves the abdominal organs into their proper place. Then they permanently close the hole in the diaphragm.
Some babies with severe CDH may remain on ECMO for several weeks after surgery. This gives their lungs a longer window in which to heal and recover.
All babies who undergo CDH repair surgery can expect to stay in the NICU for recovery for at least 12 weeks.
The long-term outlook for babies with CDH varies depending on the severity of the CDH diagnosis.
Babies with severe CDH may face life-threatening complications that limit the function of their heart, lungs or brain. These babies are often placed on life support for stabilization after birth, and they may require lifelong follow-up support for complications including:
Babies with mild or moderate cases of CDH typically have a much easier recovery. With early diagnosis and proper treatment, these children often go on to live normal, healthy lives without long-term complications.
Last Updated 03/2025
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