Congenital Diaphragmatic Hernia: Causes, Symptoms & Treatment

Congenital Diaphragmatic Hernia in Newborn Baby

Diaphragmatic Hernia, also known as a congenital diaphragmatic hernia (CDH) is a very rare form of congenital disability that happens in about one in 3000 pregnancies. It is an abnormality that occurs in the foetus as it is developing in early pregnancy. An opening in the diaphragm which separates the abdomen from the chest causes organs in the abdominal cavity to move into the chest cavity. It results in underdeveloped lungs and related breathing problems once the baby is born. CDH can be detected early and treated during pregnancy or post-delivery.

What Is a Diaphragmatic Hernia?

The diaphragm is a flat and wide muscle that separates the abdomen from the chest cavity. It begins to form in the foetus when it is about 8 weeks old. When the diaphragm fails to form completely it leaves a hole behind which leads to a defect termed as a congenital diaphragmatic hernia. Most of the CDHs occur on the left side, and the gap allows the organs of the abdomen such as the intestine, stomach, liver, spleen and kidneys to be pushed into the chest of the foetus. When these organs move into the chest cavity, they occupy the space which the lungs would normally need, to develop fully. This affects the development of one or both lungs. The foetus doesn’t need lungs to breathe in the womb as the placenta provides all the oxygen. When the baby is born with CDH however, the lungs are too small to provide sufficient oxygen for the baby to survive. A diaphragmatic hernia in infants can be treated surgically with good chances of recovery.

How Common Is Diaphragmatic Hernia in Newborn Babies?

A diaphragmatic hernia is a relatively rare type of hernia in newborns. Numbers show that one in every 2500 to 3000 births have cases of a congenital diaphragmatic hernia.

Types of a Diaphragmatic Hernia

A diaphragmatic hernia can be divided into two types:

1. Bochdalek Hernia

The Bochdalek Hernia accounts for about 80 to 90 per cent of the cases and involves the side and back of the diaphragm. Organs such as the stomach, spleen, liver, and intestines normally move up into the chest cavity. In this type, the diaphragm may not develop completely, or the intestine may become trapped while the diaphragm is forming.

2. Morgagni Hernia

A Morgagni hernia is extremely rare and accounts for about 2 per cent of the cases. It involves a hole in the front part of the diaphragm. It is characterised by the liver and/or the intestine pushed up into the chest cavity.


A diaphragmatic hernia is a condition that involves multiple factors; both genetic and environmental. Some of the reasons for a diaphragmatic hernia in babies include:

  • Chromosomal and genetic abnormalities that lead to deformation during the formation of tissues
  • Nutritional problems that cause incomplete development of the diaphragm
  • In cases such as Morgagni hernia, there is the improper development of the tendon that runs along the middle of the diaphragm
  • 40% of babies with a diaphragmatic hernia have other problems such as underdeveloped lung tissue and blood vessels in the area. It is unclear whether a diaphragmatic hernia causes the underdeveloped tissues or it’s the other way around


A mother taking care of her unwell child

The signs of a diaphragmatic hernia in infants include:

  • Difficulty in breathing is the first sign of CDH. As soon as the baby is born its lungs can’t function properly as the chest cavity is overcrowded.
  • Rapid breathing, also known as tachypnea is seen in babies with CDH. As the oxygen levels are low, the lungs try to compensate by breathing at a faster rate.
  • Discolouration of the skin is also seen when there isn’t enough oxygen in the body. This makes it appear blue (cyanosis).
  • Rapid heart rate (tachycardia) is a symptom as the heart tries to pump harder to supply the body with oxygen.
  • Diminished or absent sounds of breath in the baby. This is common in a CDH as the baby’s lung would not have developed fully. The sound of breathing is almost absent or difficult to hear on the affected side.
  • Bowel sounds are heard in the chest cavity as a part of the intestine is in the chest.

Diagnosis and Tests

A congenital diaphragmatic hernia is often diagnosed before the baby is born. About half of the cases are discovered during a routine ultrasound exam of the fetus. Red flags such as an increased amniotic fluid in the uterus are often a sign. If it goes unnoticed in the ultrasound exams during pregnancy, there are signs and symptoms the babies show of CDH after they are born. Based on the symptoms the doctor may go for the following tests to diagnose CDH:

  • X-ray examination
  • Ultrasound scan for real-time imaging of the chest cavity
  • CT scans which offer a direct viewing of the abdominal and chest cavity
  • MRI scans that can give a precise evaluation of the organs

Risks and Complications

  • Depending on the severity, children can have a recurrence of CDH after treatment which might require subsequent surgeries.
  • Respiratory problems occur commonly in infants with CDH. They have pulmonary hypertension (restricted blood flow to the lungs) and might need oxygen at home. They are also susceptible to infections from viruses such as the Respiratory Syncytial Virus (RSV).
  • Babies also have gastrointestinal issues such as nutrition and oral aversion and Gastroesophageal reflux disease (GERD).
  • Bowel obstruction and constipation can also occur when the intestines are surgically moved back into the abdomen.
  • As they grow older, they also have problems related to skeletal development, hearing and developmental delays.


The treatment for CDH depends on how severe the condition is and what the safest options are which yield desirable results in the long run.

During Pregnancy

  • If the CDH in the baby is severe, it may be treated while still in the womb using a technique called percutaneous foetal endoluminal tracheal occlusion (FETO). Being a complicated procedure, it may only be available in certain multi-speciality hospitals
  • FETO uses keyhole surgery to place a tiny balloon in the baby’s windpipe. Done around 26-28 weeks of pregnancy, the balloon stimulates the baby’s lungs to develop. It is removed later during pregnancy or during birth
  • FETO being a complex operation carries the risk of ruptured membranes and premature labour. The specialist can advise and guide you on your options
  • If the CDH is not severe, waiting without intervening is a preferred option

After Birth

  • Surgery is the first step of how a diaphragmatic hernia is treated after birth. CDH requires urgent surgery and may be performed as early as 48 to 72 hours after the delivery.
  • Before the surgery, babies will have to be kept in Neonatal intensive care since CDH is life-threatening. To help them breathe, they will be placed on a breathing apparatus called a mechanical ventilator.
  • Once the baby’s condition is stable, surgery is performed to move the stomach, intestine and other organs back into the abdomen. The hole in the diaphragm is then repaired.

When Your Child Will Be Discharged

Most babies will have to stay under Neonatal intensive care after the surgery to help them breathe until they can do so on their own. Depending on the severity of the CDH, their stay may vary from about 3 to 12 weeks in intensive care.

How Will Your Child Recover?

The baby will remain on a ventilator after surgery until its lungs can recover enough to breathe. The intestines will also need time to recover and work properly. During this time the baby will be drip-fed the necessary food and nutrition. Once ready, they can have small amounts of breast milk or formula-fed through a tube that goes into their tummy. As they get better, they can be breast or bottle-fed directly.

Can You Prevent Diaphragmatic Hernia in Your Child?

The congenital diaphragmatic hernia has no known prevention. If it runs in the family, couples can seek genetic counselling.


1. Is there any possibility of having another baby with a Diaphragmatic Hernia?

It is highly unlikely that you may have another baby with CDH in a subsequent pregnancy. The chances of that happening are about 2 per cent.

2. Can Diaphragmatic Hernia be a problem in future?

Depending on the severity of the CDH, some babies can recover in the following years to live fully functional lives. Some children, however, will need oxygen and medication for a long time. Some are known to have gastrointestinal and growth and development problems.

A congenital diaphragmatic hernia is extremely rare but a treatable congenital disability with a positive prognosis in general.

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