There is no known cause of CDH. In most cases, CDH is an isolated finding, but in at least 20% of cases, there is an underlying genetic or chromosomal issue.

It is not fair for any baby or any parent to receive this diagnosis and it can be devastating to receive this news about your precious child. Please remember that it is not your or your partner’s fault. In some cases, there is an underlying genetic or chromosomal issue that causes the hole in the diaphragm – again this is not caused by something a parent has or hasn’t done. In most cases, for some unknown reason, while growing in-utero, the baby’s diaphragm simply does not form properly.

CDH is one of the more common congenital birth defects. In Australia, about 120 families receive a CDH diagnosis each year. This is around one in 2,500 babies born each year.

There is much research being done to further understand CDH, particularly in the United States and the United Kingdom. In the US, some doctors are performing in-utero surgery on very specific cases of babies with CDH. In Australia, many hospitals, researchers and doctors are working hard to better understand CDH – in particular the best way to ensure a baby has the best chance of survival during pregnancy and post birth. There is also much work being done to ensure the best level of care for both the baby and the family post-natally.

No, the rates of CDH are not related to being a twin. CDH can occur in one or both twins, just like it can in pregnancies with one baby.

While there is nothing you can do to ‘get rid of’ CDH, the thing you can do is take care of yourself and your baby. You can do this through: healthy eating, exercising if appropriate, seeking counselling or emotional support if you feel you would benefit from it, minimising stress, taking time out to meditate or journal, talk to those close to you, and remaining hopeful.

Yes, CDH pregnancies require more monitoring than a normal pregnancy where the baby has no issues detected. Your pregnancy will need to be managed through a specialised fetal clinic at a major obstetric hospital. This means you will have more scans and your baby will be regularly checked to see: what abdominal organs are in the chest, how the lungs are growing and developing, that the heart is performing and growing as it should be, the size and growth of your baby.

Usually doctors will recommend a planned induction for birth around 38–39 weeks. This is so that a team of medical professionals is prepared in advance for the arrival of the baby, and so that a NICU bed is secured in advance where possible. It is not compulsory to have a planned induction, and of course sometimes babies come early. It is important to discuss your birth plan with your medical team and to make decisions that you feel comfortable with.

A normal vaginal delivery is possible for many CDH pregnancies. Sometimes vaginal birth is recommended as it helps to compress fluid from a baby’s lungs. It is also worth considering that the recovery time from a vaginal birth may be shorter than that of a c-section – which can affect when a mother is able to visit her baby post birth.

When CDH is diagnosed prenatally, it is important to birth your baby at a hospital that has the equipment and medical staff that can best support the baby. If you are diagnosed prenatally, your doctors should be able to advise on this.

It is unlikely that you will be able to have your baby at a private hospital. CDH is a complex condition, and the best outcomes for mother and baby occur when the pregnancy and birth is managed in a specialist hospital for CDH. In Australia this is always a large teaching obstetric hospital in a major city. Unless your obstetrician or paediatrician work in such a hospital and have experience with CDH they will request that the specialist CDH team manage the birth. It may be possible for a private midwife to attend the delivery as your support person. This will need to be discussed with and approved by the specialist CDH team managing your birth. Your private midwife will not be able to deliver your baby.

It is unlikely that a baby with CDH can be held by the parents, or have skin to skin contact immediately after birth – it is important to ensure the baby’s body receives oxygen as soon as possible. This process should be discussed with your medical team while you are pregnant.

This is dependent on your hospital. In most cases, you will be able to have at least one support person at your birth, and in many cases you will be able to have two. There will be more than the normal number of health care professionals at the birth. In most cases a senior obstetrician will deliver your baby. There will be a specialist NICU team present to stabilise your baby after birth. This will consist of at least two NICU doctors (one a specialist) and two NICU nurses.

If your baby was diagnosed with CDH prenatally, your baby is very likely to be put onto a breathing machine post birth. This is known as the process of intubation. It is unlikely that your baby can be held, or have skin to skin contact – it is important to ensure the baby’s body receives oxygen as soon as possible. This process should be discussed with your medical team while you are pregnant. For babies who have undiagnosed CDH, it is likely that post-birth breathing difficulties will be apparent – from here medical staff will intervene to ensure the baby’s body is oxygenated. From here, the baby is stabilised and given medications to ensure the baby is sedated and not in pain.

The hospital length of stay is very variable. For infants with mild CDH, who do not require mechanical ventilation before their surgery, they may be out of hospital by 2 weeks of age. However, many babies with CDH require more support than that, and some have needed to be in hospital for as long as six months. The average length of stay is approximately five to six weeks.

Some children’s hospitals will have on-site facilities or rooms for mothers who have a baby in NICU so that they are able to stay close by as they recover in the days after birth. This is not the case for all hospitals however, so you will need to discuss this with your doctors. As for visiting, or staying overnight in your baby’s NICU room, most parents will have 24-hour access to their baby, while other visitors will have to visit during the hospital's visiting hours. Again, each hospital can advise you of their specific rules.

In order for surgery to take place, the doctors need to ensure that the baby is stable and healthy enough to undergo the surgery. Therefore, surgery times can be very different from baby to baby. In general, many babies have the surgery in the few days or week after they are born.

The operation itself takes around one hour, however the pre and post operation preparation will mean the entire surgery will take around three to four hours.

You can do many things with your baby, such as talking to your baby, reading books, singing to, or touching your baby. In the first days after your baby’s birth and surgery you may not be able to pick up or hold your child, but this is dependent on how stable your baby is and what your medical professionals advise. You should be able to assist the nurses with your baby’s cares, which includes changing their bedding, wiping their face and body, and changing their nappies. Once your baby is more stabilised, you should be able to hold your baby, have skin-to-skin cuddles, give them a bath, and feed them.

As soon as it is safe for your baby to do so. This is dependent on each baby and what your baby’s doctors advise. Doctors and nurses recognise the importance of skin-to-skin contact and cuddles so will endeavour to make these things happen, provided it is in the best interest of the baby and doesn’t create any unnecessary risks.

Breast milk helps babies in NICU recover better. If you would like to breastfeed your baby, this is often possible. Again, each baby and mother is different and it is best to seek the advice of your medical team. Most babies will not be able to try feeding from the breast or bottle until after they recover from surgery. Therefore, if you are hoping to breastfeed, it is important to express regularly to maintain your milk supply after birth. A good lactation specialist, midwife or nurse will be able to assist new mothers with this process.

Most babies start on a nutrient drip after they are born and until they are able to undertake breathing on their own. After a baby can breathe on their own, they will likely be put on a feeding tube, where breast milk or formula can be given. Oral feeding via breast or bottle can likely be introduced after this. Often a mix of oral feeding and feeding tube takes place for a while, until the baby is capable of getting enough milk through oral feeding to steadily gain weight.

Losing a baby is one of the most painful experiences anyone can face. You are not expected to ‘come to terms’ with this loss – ever. As difficult as it is, one thing that often helps alleviate some pain is time. It is important that you know there is not one way, or a right way to navigate this journey of loss, and what works for some parents, will not work for others. It is rare that the Hospital will put any boundaries around how you spend this time with your baby. Some gentle suggestions are: if possible, spend time with your baby after they have passed – take photos and create memories; seek professional help through a counsellor or psychologist; seek medical help through your GP or doctor – they can refer you to a counsellor, psychologist, can provide a mental health plan or in some cases prescribe medication; allow your feelings to surface and do not feel you must endure pain without external help; journal and take time to do things that help you alleviate anxiety and stress such as exercising, walking with a friend, meditating, reading. You may also find it useful to talk to other parents who have lost their baby to CDH. We encourage you to join our private Facebook support group for bereaved parents. Please also review the grief and loss section of our website which provides useful information and links.

There is no known cause for CDH. Please do remember that there is nothing you did that caused this, or that could have fixed this. It is not fair for any baby or family to be diagnosed with this condition, and it is not fair for any baby to pass away, nor for any parent to lose their child.

There is no data to indicate that CDH is hereditary, or that parents who previously had a baby with CDH will have another baby with the same condition.

Please visit our resource library where you will find a fact sheet created by members of our community for ways in which you can support your friend or family member after a loss. You can also visit the grief and loss section of our website for useful links.

This is dependent on each child and the strength of their lungs. In general, CDH children will be able to play games with their friends that involve running around. There is an increased likelihood for CDH children to have asthma, however this won’t necessarily stop your child from being able to play sport. For some inspiration, read about our CDH ambassadors, who are strong and active CDH survivors.

Because CDH children have smaller and less developed lungs, they are not necessarily more susceptible to ‘catching’ a virus or illness, but, if they do get sick they have the potential to become much sicker than a child who was born with two full-sized healthy lungs.

It is very important that your baby has all the normal immunisations because CDH children are at greater risk of being sicker after any infection. Some babies and children are recommended the immunisation for Respiratory Syncytial Virus (RSV), this is case by case and needs to be discussed with your child’s doctor. Generally speaking most CDH survivors will not require extra immunisations, only the standard health vaccinations that are recommended for all babies and children. It is also recommended that children have their annual flu shots.

Again, this will vary based on individual children and their health. If you have a CDH child who is healthy and thriving, then they should be able to attend childcare. Many parents (even those of children who have never had CDH nor any serious condition or illness) will find that their child contracts many illnesses in the first months at a childcare centre.

It is important to remember that you know your child better than anyone. If you have concerns regarding your child’s health, always seek professional medical advice. Reherniation, or a bowel obstruction will commonly have the same symptoms of stomach bugs and general illnesses – such as vomiting, a temperature, lethargy or abdominal pain. If you think your child is suffering from an obstruction or reherniation, keep a very close eye on your child and seek medical help as soon as possible.

Your child’s scars should have no lasting physical impact.

Most adults require no check ups if they are well and healthy. If someone enters adulthood with lung problems, pulmonary hypertension or any disability they will need to be followed up by a specialist. Your paediatrician will organise this for your young adult.

Are adults with CDH likely to have children with the same condition? There is no data to indicate that CDH is hereditary, or that survivors have a higher chance of themselves having children with the same condition.

No. People born with CDH should never smoke or be exposed to passive smoking. Smoking is a high health risk for those with fully-formed, healthy lungs. Not only does it cause cancer, emphysema and heart disease, but it causes the lungs to stop growing properly. Our lungs do not stop growing until near adulthood, and lung function improves until well after we turn 20. Because CDH children are born with less lung tissue they need to ensure their lungs have every opportunity to grow.

The scars have no impact on health. Your surgeon will make the incision just under the ribs so to minimise the cosmetic impact of any scar. Sometimes the scar needs to be revised in older children or adults for cosmetic reasons. Your surgeon will discuss this with you if appropriate.

Yes it is possible for an adult CDH survivor to re-herniate, but it is uncommon. It is important for anyone born with CDH to be aware of what is normal and abnormal for their body. Re-herniation can often present the same symptoms as a stomach bug or generally being unwell. If you or someone you know thinks something is wrong, it is always best to see a doctor or to discuss your health with medical professionals.

There are few reliable studies of the long-term effects in adults of being born with CDH. That is because these studies take a long time to complete and until recently we did not have reliable ways of following people’s health long-term in the community. Long-term follow up studies are currently being conducted around the world. Many of the treatments now available for CDH babies were not available to the current adults born with CDH.

Yes! Many babies and children with CDH go on to live normal, healthy, physical, and happy lives. It is amazing just how resilient CDH survivors are and to see how little bodies heal to become healthy and capable adults. You can read about our CDH Ambassadors – each is a CDH survivor who has gone on to achieve many accomplishments.

It is unlikely that CDH pre-disposes adults to significant later lung disease unless they smoke. Most adults are not expected to have any issues. We don’t yet know enough about how lungs grow in late childhood and adult life after birth with CDH. It is possible that there maybe lung or heart problems in some adults, this is one reason why doctors follow up babies born with CDH throughout childhood.

We have a private Facebook group for adult survivors of CDH. This group is a great support and sounding board. You can join by emailing us hello@cdh.org.au, or messaging us on Facebook.

At this stage, parents are usually in a great deal of shock and distress. Often, they need time and space to navigate what is often a very big surprise to a diagnosis that they have likely never heard of. 

• Allow the parents space – don’t inundate them with communication and questions. 
• Send a thoughtful message without the pressure for them to send a response. 
• It may be helpful to only have a couple of people in contact with the parents (perhaps their immediate family members or a close friend) who can then be in charge of dispersing information to their wider network of family and close friends.
• Do not share their diagnosis, news or updates without their express consent or request to do so. 
• Do not give unsolicited advice. Unless you have been in that situation, you do not know what it is like. 
• Drop a meal off on their doorstep. 
• Listen to them. If they decide to open up and talk to you – listen more than you speak. Allow them the space to talk about how they are feeling without trying to offer a solution or remedy.

This stage is exhausting and scary for any parent, let alone when your child is not with you, is in NICU and is facing surgery. Parents are understandably worried for their baby and may also have other children or responsibilities they need to take care of. As well as the tips supplied in Diagnosis and Pregnancy, you could: 

• Offer to help take care of any other children they have.
• Offer to walk their dog or take their pets.
• Prepare food that is easy for them to eat on the run (e.g. individual slices of banana bread that parents can freeze, eat in the car on the way to the hospital, or can put in their bag to eat while visiting their baby). 
• Buy a children’s book for them to read to their baby in hospital. 

Going home with their baby is an exciting, but also daunting time for parents with a CDH child. Some parents may require space for themselves to settle into their new lives, and some may want visitors and people to meet their child. Remember each family is different and to respect that the parents are still navigating a new world.

• Any newborn is more susceptible to illness, but this is especially true for babies who have spent time in special care. Respect that parents will be concerned about the health of their baby. Even though the baby is well enough to be discharged from hospital, they may not feel comfortable having visitors. Wait to be asked to come and visit. 
• If visiting the baby, make sure you are healthy and have not been around anyone who is unwell for the last two weeks. Wash or sanitise your hands before handling the baby. Ensure you have had any necessary vaccinations. 
• Listen to the parents and their journey and concerns if they choose to share this information with you. 
• Do not minimise what the family have gone through or expect that they will be fine. They would have faced much stress, anxiety and trauma. 
• Bring a meal for the family – cooking is often the last thing on their mind when they are tending to a newborn. 

Unfortunately, losing a baby with CDH is not uncommon. This is one of the greatest pains a parent will ever face, whether they lose their child in-utero or after the baby has been born. When a baby passes away, their parents are left living life with unimaginable pain. The support of family and friends is invaluable. Below are some ways to support your friend or family member. 

• Acknowledge the baby and the loss. 
• Say the baby’s name if you know it, and if the parents seem comfortable talk to them about their baby. 
• Don’t stop talking about their baby in their future. Try to remember important dates such as the baby’s birthday or the day they passed. 
• Listen to the parent if they choose to share their feelings with you. 
• Keep in contact. Even if the parent doesn’t want to see you, or doesn’t always respond to your phone calls or messages, keep in contact and ensure there is no expectation for them to respond. A simple message saying ‘I’m thinking of you and sending you love’ can help show your friend/family member that you are still there for them if they need you. 

Download: supporting bereaved parents.