The diaphragm is a thin layer of muscle and tissue that separates the chest and abdominal cavities. It is the main muscle the body uses to breathe. When a child has a congenital diaphragmatic hernia ( CDH), it means there is a hole in that layer.
CDH is a serious, life-threatening condition. Babies with congenital diaphragmatic hernia have many long-term complications that persist beyond infancy. Given this, is there a way to prevent CDH or how to treat a child with the condition?
Definition

Congenital diaphragmatic hernia (CDH) occurs when there is a hole in the diaphragm. When this hole forms during fetal development in the womb, the intestines, stomach, or even the liver can move into the chest cavity. The presence of these abdominal organs in the chest limits space for the lungs and can lead to breathing complications. Because CDH forces the lungs to grow in a compressed state, some aspects of their function may not develop normally until after the baby is born.
The lungs will be smaller than expected (pulmonary hypoplasia), and will have underdeveloped blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension).
Based on its position, there are 2 types of CDH, namely:
- A Bochdalek hernia is a hole in the back of the diaphragm that can allow the liver, stomach, spleen, and/or intestines to protrude into the chest cavity. Ninety percent of children have this type of CDH.
- A Morgagni hernia is a hole in the front of the diaphragm allowing the liver and/or intestines to protrude into the chest cavity which has little effect on lung development.
Symptom
In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain due to the protrusion of intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms (it may be detected incidentally when medical imaging is performed for another reason).
Symptoms are differentiated based on the type of congenital diaphragmatic hernia , including:
Bochdalek hernia
Each child may experience symptoms differently, but possible symptoms of a Bochdalek diaphragmatic hernia may include:
- difficulty breathing
- rapid breathing
- rapid heartbeat
- cyanosis (blue color of the skin)
- abnormal development of the chest, with one side larger than the other
- a stomach that appears hollow or drooping.
Babies with Bochdalek type of CDH are more likely to have other birth defects.
Morgagnian hernia
Infants born with a Morgagni hernia may or may not have any symptoms. However, symptoms may include pulmonary symptoms (cough, shortness of breath, chest pain/pressure) or gastrointestinal symptoms (abdominal pain/pressure, indigestion, dysphagia, and bleeding). Bowel obstruction with or without ischemia may also occur.
Reason

Although it is not known exactly what causes congenital diaphragmatic hernia , scientists believe that multiple genes from both parents, as well as a number of environmental factors may contribute.
As reported by Johns Hopkins Medicine , in a growing embryo, the diaphragm is fully formed by 10 weeks of gestation. However, in the case of CDH, the process that leads to the formation of the diaphragm is disrupted. Once there is a hole in the diaphragm, abdominal contents can move into the chest. This is called herniation. As fetal activity and breathing movements become more frequent and strong as pregnancy progresses, the amount of herniation can fluctuate or increase.
Sometimes CDH is caused by a problem with the baby’s chromosomes or a genetic abnormality. If this is the case, the baby may have additional medical problems or organ abnormalities. In other cases, CDH can occur without an identifiable genetic cause. This is called isolated CDH, and in this case the primary concern is the degree of pulmonary hypoplasia caused by the defect. To determine whether CDH is isolated and to provide the most accurate information about the disease, genetic testing is needed.
Risk Factors
A study published in Pediatric Surgery International in 2016 explained that CDH is strongly associated with high mortality rates before leaving the hospital and the risk factors found are:
Frequency of Occurrence
Congenital diaphragmatic hernia affects about 1 in 2,500 newborns. CDH can occur on the left or right side, or rarely on both sides.
Diagnosis
Newborns with CDH will require immediate care at birth, so early and accurate diagnosis is important. Diagnosis can be made during routine prenatal care, an ultrasound may reveal the presence or suspicion of a diaphragmatic hernia.
Prenatal testing
- USG
- MRI of the fetus
- fetal echocardiogram (ultrasound of the heart).
Once all necessary tests are complete, the specialists will review and discuss what they have learned. They will then meet with you and your family to discuss the results and outline the best treatment options.
Tests after the baby is born
If CDH is not diagnosed before birth, it is usually diagnosed in the newborn period when the baby has difficulty breathing. In rare cases, small hernias and Morgagni CDH will be diagnosed later in infancy or childhood.
The following tests are often performed after birth:
- chest x-ray
- cardiac ultrasound (echocardiogram)
- blood test (arterial blood gas)
- other blood tests (genetic tests)
Handling
According to Boston Children’s Hospital , treatment can vary based on the severity of congenital diaphragmatic hernia , associated anomalies, and other factors.

During pregnancy
Pregnant women are assisted in the careful management of the mother’s pregnancy and labor, as well as the stabilization of the baby at birth and postnatal care. This comprehensive multidisciplinary care has resulted in a high success rate. The fetus will be given fetoscopic tracheal occlusion ( FETO) treatment to enhance lung maturation and reverse some of the deleterious effects of CDH on lung function.
During labor
The surgical team will be present at the time of delivery to assist the obstetrician and begin immediate care of the baby. The baby will need a breathing tube and be placed on a breathing machine called a mechanical ventilator.
Extracorporeal membrane oxygenation (ECMO) is a heart-lung bypass system that does the work that the heart and lungs would do if they were fully developed. ECMO may be needed to support your baby’s heart and lungs if they are unable to do so until your baby’s condition stabilizes and improves.
After birth
- After the babies are born, they will be taken and cared for in the NICU.
- The baby will remain on a mechanical ventilator.
- A head ultrasound will be performed to evaluate for any abnormalities.
- An echocardiogram will be performed to evaluate heart function and check for heart abnormalities. The baby may be placed on ECMO if needed.
- When the baby’s condition has improved, our surgeon will surgically repair the diaphragmatic hernia.
- During surgery the abdominal organs are moved from the chest cavity back into the abdominal cavity and the hole in the diaphragm is closed with stitches if the hole is small, or with a patch if the hole is large or if the diaphragm is missing.
After surgery
The baby will need to stay in the NICU for a while after surgery.
- Although the abdominal organs are now in the right place, the baby’s lungs and the blood vessels in the lungs are still underdeveloped.
- Babies usually need help breathing for a period of time after surgery.
- Even after babies no longer need help from a breathing machine, they may still need oxygen and medications to help them breathe for weeks, months, or years.
- Pulmonary hypertension (underdeveloped blood vessels in the lungs) may persist and require ongoing treatment.
- Nutrition is essential for your baby’s lungs and overall growth. Your baby will initially receive nutrition through a special IV drip, and once your baby has recovered from surgery, food will be given through a feeding tube placed through the nose that goes into the stomach or intestines.
- Some babies have difficulty feeding by mouth and require a long-term feeding tube to feed.
Before your baby leaves the hospital, healthcare providers will perform many tests to make sure all of their systems are working properly, including:
- ECG
- chest x-ray
- echocardiogram
- hearing test
Possible Complications
Complications of congenital diaphragmatic hernia may include:
Chronic lung disease
This serious condition may require the child to receive oxygen or medications after leaving the hospital.
Pulmonary hypertension
This is a condition in which the blood vessels in the lungs themselves are underdeveloped and do not take in oxygen as well from the air that is delivered to the lungs. This may be temporary or can be so severe that it is life-threatening.
Gastroesophageal reflux
This is a condition in which acid and fluid from the stomach rise into the esophagus and can cause heartburn, vomiting, eating, or lung problems.
Failure to thrive
Children with the most serious lung problems are most likely to have growth problems. Some need special feeding tubes to provide enough calories to grow adequately.
Developmental delay
These include delays in the ability to roll over, sit, crawl, stand, or walk. Babies almost always reach these milestones, just usually at a later age than most children.
Hearing disorders
Several cases have noted that congenital diaphragmatic hernia is associated with sensorineural hearing loss.
Prevention
Currently, there is no known way to prevent congenital diaphragmatic hernia . Early and regular prenatal care during pregnancy is important to help detect problems before birth. This allows for proper planning and care before, during, and after delivery.
Hopefully the information above is useful for you!
***
Republished with permission from theAsianParent Indonesia