Congenital Diaphragmatic Hernia

What is Congenital Diaphragmatic Hernia (CDH)?

CDH is a condition where the baby’s diaphragm does not form as it should. The diaphragm is a thin sheet of muscle that helps us breathe. It also keeps the heart and lungs separate from the organs in the abdomen (tummy).

A baby whose organs have developed as expected
CDH happens very early in the baby’s development. The lungs have less space so they cannot grow and develop properly.
In some babies with CDH the organs in the abdomen, such as the stomach, bowels and liver, go through the hole in the diaphragm. This is called a hernia. These organs take up space where the lungs and heart should be, and this means the lungs do not grow as expected.

A baby with congenital diaphragmatic hernia

Many babies with CDH will also have a problem called pulmonary hypertension, caused by high blood pressure in the lungs. This might mean the heart cannot pump blood into the lungs. This makes it more difficult for the lungs to take in oxygen. Organs need oxygen to work. Not getting enough oxygen causes serious problems.

The baby’s lungs do not need to work in the womb because the baby gets oxygen from the mother’s bloodstream through the placenta. After birth, the baby’s lungs need to supply the body with oxygen. If the lungs are small or not developed as expected they may not work properly.

2.1 Causes

We do not know exactly what causes CDH. It is not caused by something you have or have not done. It is sometimes linked to other medical conditions, like those affecting your baby’s chromosomes (genetic information) and heart. You will be able to discuss your individual circumstances with a specialist team.

CDH happens in about 4 babies out of every 10,000 (0.04%).

3. How we find congenital diaphragmatic hernia

We screen for CDH at the ’20-week scan’ (between 18⁺⁰ to 20⁺⁶ weeks of pregnancy). Sometimes we notice it during a later scan or after the baby is born.

4. Follow-up tests and appointments

As the result of the scan suggests your baby has CDH, we are referring you to the fetal medicine team who are experts in caring for pregnant mothers and their babies before they are born. They may be based at the hospital where you are currently receiving antenatal care, or in a different hospital. You will need a second scan to find out for sure if your baby has the condition. The specialist fetal medicine team will be able to confirm if your baby has CDH and what this might mean.

It may be useful to write any questions down that you want to ask before you see the fetal medicine team.

This team may offer you extra tests, such as amniocentesis.

5. Treatment

The team looking after you and your baby will involve specialists such as neonatologists and paediatric surgeons, who will help care for your baby. They will talk to you about the condition, possible complications, treatment and how you can prepare for the birth of your baby.

Babies with CDH will need specialised medical attention in a unit that is experienced in caring for babies with CDH to help with their breathing. Babies with CDH will also need an operation after they are born. This is usually to close the hernia and can be performed once your baby is well enough.

The length of time your baby needs to spend in hospital depends on the baby and varies from weeks to month. This depends on things like the kind of operation your baby needs, the recovery time, if there are any complications or associated conditions, how your baby is feeding and whether they need any extra help with their breathing. The specialist team will be able to give you more information depending on your individual circumstances.

6. Longer term health

CDH is a wide and varied condition. It can be straightforward to treat, or complicated (and more serious) if there are other health issues as well. About 5 in 10 (50%) babies born with CDH will survive. The chance of them doing well depends on how the lungs have developed and if they have any other conditions. The possible outlook for you and your baby will depend on your individual circumstances. The specialist team will support you whatever the situation.

CDH can sometimes be linked with other conditions such as Down’s syndrome, Edwards’ syndrome, Patau’s syndrome or heart conditions. This happens in up to 1 in 10 (10%) cases.

The specialist team looking after your baby will do their best to:

answer your questions
help you plan the next steps

7. Next steps and choices

You can talk to the team caring for you during your pregnancy about your baby’s CDH and your options. These will include continuing with your pregnancy or ending your pregnancy. You might want to learn more about CDH. It can be helpful to speak to a support organisation with experience of helping parents in this situation.

If you decide to continue with your pregnancy, the specialist team will help you:

plan your care and the birth of your baby
prepare to take your baby home

If you decide to end your pregnancy, you will be given information about what this involves and how you will be supported. You should be offered a choice of where and how to end your pregnancy and be given support that is individual to you and your family.

Only you know what the best decision for you and your family is. Whatever decision you make, your healthcare professionals will support you.

8. Future pregnancies

If you decide to have another baby, they are unlikely to have CDH.

For women who have a baby with CDH there is a 2 in 100 (2%) chance of CDH in another pregnancy.

9. More information

www.cdhuk.org.uk is a UK based registered charity which offers information and advice to patients, families, clinicians and other organisations on CDH (including eventration) from diagnosis to childhood and beyond.