Congenital Diaphragmatic Hernia (CDH) can be diagnosed during pregnancy, after birth, or in some rare cases well after birth. Around 120 families in Australia receive a CDH diagnosis each year.

Most of the time CDH is detected during pregnancy at a routine ultrasound – about 80% of CDH cases are diagnosed prenatally. Scans can detect CDH as early as 12 weeks, or as late as over 40 weeks, with most diagnoses occurring at the 20-week scan. CDH is detected when an ultrasound specialist finds an issue with lung growth and notices that abdominal organs are occupying space in the chest cavity.

Once CDH is detected, doctors will likely advise further scans. You may also be advised or provided the opportunity to undertake further testing such as an amniocentesis. An amniocentesis is where a needle is inserted via the mother’s abdomen to take cells from the amniotic fluid. This fluid is read to determine the likelihood of a genetic issue with the baby. An amniocentesis is not compulsory and parents should make an informed decision about what this involves.

If genetic testing such as an amniocentesis is undertaken, a result of high-risk or low-risk is provided. A high-risk of a genetic abnormality may mean other physical or developmental issues will affect the baby. This diagnosis needs to be discussed in depth with medical professionals. If a low-risk result is provided, then CDH is likely structural – meaning the CDH issue is likely isolated. This diagnosis also needs to be discussed with medical professionals.

A CDH diagnosis can have different results for different babies. CDH exists on a spectrum and all babies respond differently to CDH during pregnancy and post birth. If your baby has been diagnosed with CDH, it is important to talk to medical professionals who are experienced with this condition.

The prognosis for a baby with CDH is varied and dependent on factors such as: whether the CDH is structural or genetic, the size and placement of the hernia, whether the CDH diagnosis is on the mild or severe end of the spectrum, what abdominal organs are in the chest cavity, when the organs are likely to have moved into the chest cavity, the size and growth of the lungs, if there are any other congenital issues present. Your doctors and specialists may need to do a series of scans to better understand the prognosis.

The quality of life for babies that survive CDH is again varied – it depends on the severity of CDH, how long a baby requires special care in the hospital, and what level of intervention or assistance they require. For many CDH babies there are no, or few, long-term problems and the child will live a normal active life. For some babies there will be mild ongoing issues such as reflux or feeding problems, or being more prone to asthma. Other babies may have ongoing health issues. It is important to talk to your medical professionals in depth and to ask lots of questions.

A CDH diagnosis can be overwhelming; it is difficult to hear the news that your precious baby has this condition, but it is important to know that you are not alone and a variety of support services exist to help you

About 80% of Congenital Diaphragmatic Hernia (CDH) cases are diagnosed during pregnancy; most commonly at the 20-week scan. It is understandable that many parents will grieve the healthy pregnancy and birth they had envisaged. It is important to remain hopeful and feel assured that advances in CDH medical knowledge means a high level of care for babies and parents during the pregnancy and birth stages.

Pregnancy

If your baby is diagnosed with CDH during pregnancy, your pregnancy will be closely monitored and determined as high-risk. In actual fact, the baby is relatively safe while inside the mother’s womb as the baby isn’t required to use their lungs to breath in air.

During pregnancy mothers will have extra ultrasounds where doctors will: check what abdominal organs are in the chest cavity, monitor the size of the baby’s lungs, monitor the baby’s heart, measure the baby’s growth, and check positioning for birth. Depending on where you live, you may be required to have your pregnancy monitoring and care moved to a hospital that has experience dealing with CDH pregnancies.

Birth

 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.

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.

Once your baby is born, there will be a team of doctors who will put your baby straight onto a breathing machine. This is known as the process of intubation. It is unlikely that your baby can be held or have immediate skin-to-skin contact as 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. 

Coming to terms with a CDH pregnancy and birth is an emotional time for parents – especially mothers. It is understandable to feel sadness and grief and it is important to undertake self-care. This may be in the form of counselling or therapy, speaking to friends or family, getting in touch with our CDH community, journaling, or taking time away from work. For each mother, father, parent, and family, the feelings and needs will be different.

Because a baby with CDH has underdeveloped lungs, they need to be put onto a breathing machine straight after birth (this process is known as intubation). The baby is then stabilised and put on drugs such as morphine to keep them calm and out of pain.

NICU

Depending on where you are located during the birth, the baby will be transferred to a Neonatal Intensive Care Unit (NICU) so that they can be stabilised. CDH needs to be managed in a NICU with nurses, physicians and surgeons who specialise in the condition. In Australia this may mean your baby will need to be moved in the first 24 hours from a NICU in the birthing hospital to a NICU in a Children’s Hospital.

When in NICU, babies have one-to-one care where they are very closely monitored 24 hours a day by specialised medical and nursing staff. Babies will be placed in special humidicribs where they are kept warm. Babies will receive help from various machines, with a number of tubes and attachments to their body – these will likely include: breathing tube through their mouth that is connected to a breathing machine (ventilator), a nasogastric from their nose to their stomach to decompress gas in the stomach and later supply vital nutrients (CDH babies are not able to initially breast or bottle feed), a heart and breathing monitor, a number of different types of cannulas (small plastic tubes) placed into their veins and arterials for blood tests, giving fluids and medications.

Surgery

After a baby is stabilised, the next step to recovery is usually surgery. The average time for a baby to have surgery is 3–10 days. The surgery itself usually takes around one hour, however the entire process of preparing the baby and having the baby come out of surgery is around three to four hours. Parents are usually advised to remain close to the hospital during this time.

Surgery involves opening up the baby’s abdomen around the ribcage and moving the abdominal organs back to the abdominal region. Then the hole in the diaphragm will be repaired. Depending on the size and location of the hole, surgeons may either close the hole by suturing the ends of the diaphragm together, or use a patch made of a special material. Although uncommon, sometimes the abdomen may not have enough room to house the organs straight away. In these cases the baby will need to have abdominal organs outside of the body until the abdomen grows. A second surgery will then be conducted to replace the abdominal organs in the correct location.

Sometimes surgery is performed by making an incision (cut) along the skin under the ribs (called an open repair), at other times the surgery may be done via key-hole surgery with a smaller incision. There are pros and cons of each type of CDH repair, and your surgeon will discuss their choice and reasons with you before the surgery.

After surgery it is important that the baby has time to re-stabilise. Parents are usually able to visit their baby a few hours after surgery is complete.

Breathing

Once the baby’s organs are in the correct place after surgery, the next big step towards recovery is to have the baby breathe on their own. Again, each baby is unique and not all babies follow a standard path. Some babies may skip a step, some may go back and forward between steps, some babies will require long-term breathing assistance, some babies may require on and off breathing assistance. When your baby is in hospital, your medical team will be able to talk you through your baby’s requirements and situation in detail.

The most common steps to help a baby breathe on their own involve:

• Intubation / mechanical ventilation
  This is where a tube is inserted into the baby’s mouth and windpipe so that a special machine can move air in and out of the baby’s lungs. A baby will very likely be intubated straight after birth and this will remain post surgery. There are a number of different types of mechanical ventilators (breathing machines) that your baby may receive. The most common type is called conventional mechanical ventilation where the doctors try to support regular breathing patterns. Some babies will receive high-frequency oscillatory or high-frequency jet ventilation. These are specialised types of mechanical ventilators which give very small but very fast inflations (240–900 breaths a minute) to the lung (like a dog panting). They are usually used if the doctors are worried about lung injury or a baby needs a high amount of oxygen. The choices around breathing machines can be complex so make sure your doctors and nurses explain them and how your baby is responding.

• Continuous Positive Airway Pressure (CPAP)
  CPAP is breathing assistance that uses air pressure to keep airways open without a breathing tube. A soft face mask or small rubber prongs are placed in the nose and additional pressure and oxygen placed into the back of the mouth to help babies whilst they are breathing. This is the type of breathing assistance used during sleep by people with sleep apnoea. CPAP is usually used once a baby can breathe without a tube.

• High flow / Low flow oxygen
  Respiratory support usually through a small nose prong. This air support reduces the work of breathing and allows additional oxygen to be given.

• Breathing on their own
  No breathing support required by the baby. Some babies will continue to require ongoing breathing assistance after leaving hospital. If your baby requires this, the hospital will coordinate training and equipment.

Heart

Many babies born with CDH have heart problems in the first few weeks after birth. Your baby will have continuous monitoring of oxygen levels and blood pressure, and at least one heart scan (called an ECHO). If your baby has any heart problems it is likely that a group of medications called inotropes will be started. There are different types of inotropes that maybe used depending on the type of heart problem. All are given via a continuous intravenous infusion. Many babies also need to have a gas called nitric oxide added to the oxygen. Nitric oxide helps relax the blood vessels in the lungs.

Feeding

Once a baby is able to breathe on their own, the next hurdle is to introduce feeding. 

Post birth and until surgery, your baby cannot feed – instead your baby receives vital nutrients via a Total Parental Nutrition (TPN) tube. After surgery, your baby is monitored to see when it is appropriate to introduce feeding – usually once the intestines appear to be ready. Once ready, a tube via mouth or nose will be inserted that leads directly to the baby’s stomach. It is through this tube that breast milk or formula can be given to the baby. This feeding tube is necessary while the baby requires respiratory support or if they are having trouble feeding orally. 

Again, each baby is different. Feeding can be a difficult process for some babies; it can be very tiring for them and patience is required. Breastfeeding, bottle feeding with expressed breast milk, formula or feeding tube are all ways for your baby to get the vital nutrients they require. Hospitals will have staff to assist parents with the feeding process. 

In many cases, breastfeeding is possible if the mother is able to, and chooses to do so. After giving birth, midwives at the birth hospital should assist in teaching mothers how to express milk from the breasts by hand and by machine. Hospitals should be able to supply mothers with the equipment they will need for this, but it may be worth looking into hiring or purchasing a breast pump if you are wanting to breastfeed or provide expressed breast milk. If you would like to breastfeed or use breast milk, it is important to keep milk supply up by regularly expressing milk. Please talk to a lactation consultant or midwife at the hospital about this. It is important to remember all women are different and breastfeeding is not always viable or the right option for every mother.

Parental care and interaction while at hospital

Depending on how stable your baby is, you will likely only be able to look at, sit next to and touch your baby with your hands when they are first taken to NICU. Holding your baby will be dependent on how stable they are and what your medical team thinks is best for the baby at various stages of their journey. 

It is a great idea to interact with your baby as best you can while they are in hospital. To begin with, touching may be limited but you can still talk to your baby, read your baby books and be present for them. Most hospitals will work closely with parents to ensure parents are actively involved in their baby’s care – this may mean cuddles, skin to skin contact, feeding, changing diapers, changing bedding, washing and cleaning your baby, or undertaking milk therapy. 

Many babies will not open their eyes for the first while as they will be sedated and likely bloated or puffy from medication and surgery. Due to their breathing tube, babies will not be able to use their vocal chords, so you will not hear your baby crying to begin with. But your baby will know you are there with them and will be comforted by your presence and love. 

Discharge

At various stages above, as your baby progresses they might be moved from one-to-one NICU care to less intensive care. Your hospital team will talk you through this process. In order for your baby to be discharged and taken home, the hospital team will be looking to ensure the baby is feeding and gaining weight, breathing comfortably and generally doing well. 

Going home

This is usually as daunting as it is exciting. When the time comes to finally take your baby home, it could be any variation of scenarios: no breathing assistance and no feeding tube to some assisted breathing or feeding. If any assistance is required your hospital team will ensure you are fully trained to handle your baby’s needs. Follow up care will be coordinated between the hospital staff and parents. This could include at-home visits and scheduled hospital follow ups. 

The organisations listed below provide specialised support for children who need special care at birth and beyond.

Life’s Little Treasures Foundation
Australian charity dedicated to providing support, friendship and information, specifically tailored for families of premature or sick babies. 

Miracle Babies Foundation
Miracle Babies Foundation provides vital programs and resources to support and enhance a family’s experience from a threatened pregnancy, hospital journey with a premature or sick newborn, the transition to home and beyond.

What do I need at home?

To get your baby home from the hospital you will need a professionally fitted baby seat in your car, or a suitable pram/bassinet for other modes of transport. At home you will need the same set up as any other baby – a safe sleep environment, feeding equipment (if not exclusively breastfeeding), clothing, change table etc. If any medical equipment is required, this will be discussed and coordinated before your baby is discharged from the hospital. 

Children with CDH

The outcomes for children with Congenital Diaphragmatic Hernia (CDH) are varied and depend on factors such as the severity of their CDH. Most babies with CDH will meet their developmental milestones like other babies and children, but will require regular check-ups with their doctors.

It is very important that your baby is fully vaccinated with the current Australian Schedule. Your doctor will likely also organise additional vaccinations against influenza and other viruses beyond the normal vaccination schedule.

Ongoing medical check ups 

From the time your baby is discharged from hospital and allowed to go home, you will need to work with your hospital and medical experts to ensure ongoing, regular health checks for your baby. At first, this may be weekly or monthly depending on your baby’s medical needs and health.

In the first two years of life, many babies will have hospital check ups every 3–6 months. After your baby is two, they will likely only require annual hospital check ups. If there are any issues or if you have any concerns, it is always best to consult your healthcare professional for next steps. Once your child is an adult (18 and over), they will no longer be seen at a children’s hospital. It is important to communicate with your CDH child as they grow up, to make them aware of how they can best take care of their bodies and what signs to be conscious of, so that as adults they will feel confident looking after their health and knowing when to seek help.

Your child’s medical history

Keeping an accurate medical history record for your child is important to ensure your child gets appropriate ongoing care.

The beginning of your medical history records is your baby’s discharge summary, which you are given when you are discharged from the hospital, whether from the NICU or a ward. The discharge summary is important as it will let any doctor, nurse or allied health professional know what happened to your baby during their stay in hospital. A copy of the discharge summary may also be sent to your GP and it’s recommended that you bring a photocopy to your child health nurse on your first visit, so they too know what occurred in hospital. It’s recommended that you take a copy of your child’s medical history with you when you see a health professional who is not familiar with your child’s background.

It is also possible to obtain a copy of your child’s hospital records through Freedom of Information (FOI). Most hospitals will have a form you can complete to send to their records department. Call your hospital or search on their website for FOI details.

Some complications faced by CDH children  

Feeding issues and Gastro-Oesophageal Reflux Disease (GORD)
Some CDH children will face issues with reflux and vomiting after feeding. This can be due to a sensitive gag reflex after having a feeding tube for a period of time. This may require anti-reflux medications. Other babies may have some sensory issues around feeding due to the medical machinery and tubes they have had in their mouth and nose while in hospital. 

Bowel obstructions
Intestines do not particularly like being handled, which is often needed during CDH repair surgery. This is not common, but your child’s intestines may form scar tissue which could lead to a kinking of the bowel. A bowel obstruction can be very serious and may require surgery. Signs of a bowel obstruction are similar to those of a baby with a stomach bug – nausea, stomach ache or cramps, vomiting, constipation, and diarrhea. Any of these symptoms should be checked with medical professionals.

Re-herniation
Rarely, a child’s diaphragm may re-herniate. This will require further surgery. Signs of re-herniation include your child feeling very sick, frequent vomiting or vomiting up green bile, a temperature, pain or lethargy. Sometimes there may be no signs at all to begin with. It is important to keep attending regular follow-up appointments with doctors and to seek medical assistance if your child has signs of re-herniation or of general sickness. The only way to confirm re-herniation is through an x-ray or scan.

Respiratory issues
Due to their smaller and underdeveloped lungs, CDH children can face increased risk of asthma or may be at higher risk for respiratory infections such as Respitory Syncytial Virus (RSV) or chest infections. A baby’s lungs will continue to grow and strengthen in the first years of life after their CDH surgery, so this is when babies and young children are most at risk. As with many young children, it’s important to try and keep them safe by practicing regular hygiene, asking family and friends to not visit if they are unwell, and avoiding situations where your baby is more likely to pick up viruses.

Adults with CDH

Adults with Congenital Diaphragmatic Hernia (CDH) can, and do, live normal and full lives. Throughout childhood, lungs will grow and strengthen. Children with CDH have regular medical follow-up appointments, which may include breathing tests to examine the strength and capacity of lungs, as well as x-rays or ultrasounds. The goal is for CDH survivors to understand the condition they were born with so that as adults they are aware of any complications, or limitations they may face, and to know when to seek medical advice and help. 

Currently, there is not a great deal of research or data available to understand the long-term outcomes for adults who suffered CDH as babies. Qualitative data from CDH survivors indicates the long-term effects to be dependent on the severity of CDH at birth, and any complications experienced during the early stages of life. 

You can read about our CDH ambassadors – each is a CDH survivor. 

Or, read the profile of James Paull who is a CDH survivor and a previous CDH Australia Board Member. 

Congenital Diaphragmatic Hernia (CDH) has a 50–60% survival rate in Australia. Unfortunately, not all babies and children diagnosed with this condition survive, and grief and loss can be a very difficult part of a family’s CDH journey.  

Pregnancy loss
Some babies diagnosed with CDH pass away in-utero.

Loss after birth
Each baby with CDH is different and it is not known how a baby will respond once they are born. Some babies cope very well outside the womb while others struggle. 

Creating memories for your baby 

Below are links to organisations that help create special memories for your angel. 

Heartfelt
A volunteer organisation of professional photographers dedicated to giving the gift of photographic memories to families who experience stillbirth or have children with serious or life-threatening illness. All services are free of charge. 

Angelgowns
A not-for-profit charity that specialises in supplying angel gown garments to families that have sadly had a baby pass away.

Navigating the loss of your baby

 The loss of a baby is a unique and painful grief. Each person will deal with their grief in their own way. Below are links to organisations which provide dedicated support for grief and loss.

• Hospital to Home by SANDS - a program operating throughout Australia, providing outreach support within three months of loss to bereaved parents who have experienced the death of a baby or infant through stillbirth (including TFMR), neonatal death or the sudden unexpected death of an infant (SUDI). Support can be provided face-to-face, by phone or videoconference and is tailored to individual needs. Parents decide how they would like to be supported. 
• SANDS 24/7 phone support – 1300 308 307 - Sands is a volunteer-based organisation that provides individualised care from one bereaved parent to another. You don’t need to know what you’re going to say before you call, and you don’t need to wait until you feel more ‘together’. The person answering your call will give you all the time, space and support you need to find your voice.
• Rednose grief and loss - Rednose have over 40 years’ experience supporting grieving individuals and families. Access their 24/7online support line or resources.
• Griefline - Griefline provides free counselling support to anyone experiencing grief and loss.
• The Compassionate Friends Victoria - This organisation is dedicated to supporting grieving parents, siblings and grandparents in the event of the death of a child –– of any age or from any cause.

Ways we can help: 

• Private online peer-support groups: We have a private Facebook group available for bereaved parents of CDH angels. Contact us via email or direct message us on Facebook to be added to this group. 
• Care packages: Beautiful care packages are available as a free service for parents who have lost a child to CDH. Email us and we will post a care pack to you, or your family member. 
• Honour your CDH angel: On our Facebook page, we honour and remember CDH angels on their date of birth and the date of their angelversary each year. The CDH community sends messages of love and comfort on these special dates. If you would like us to honour your CDH angel, please email us.
• Share your story: Your story may help another CDH family navigate their own journey. If you choose to share your story, we have a dedicated section of our website for stories of love and loss. You may also choose to simply share a photo as a tribute to your CDH angel. Please contact us by email if you’d like to honour your child in this way.

Information for family and friends 

Visit our Information for family and friends page

Your child’s medical record 

You may request a copy of your child’s hospital records through Freedom of Information (FOI). Most hospitals will have a form you can complete to send to their records department. Call your hospital or search on their website for FOI details. You are also able to obtain your child’s hospital records if your child did not survive. This information can help you process all that’s happened and can be another way to remember the short time you had with your baby.

Financial assistance 

You may be eligible for a financial support payment from the Australian government if you have lost a child to CDH. For more information visit the Financial support page. 

Professional counselling

Discuss how you are feeling with your GP and ask about The Better Access initiative which gives Medicare rebates to eligible people, so they can access the mental health services they need. Support is available from eligible GPs and other medical practitioners, psychologists, social workers and occupational therapists. Eligible people can receive up to 10 individual and up to 10 group allied mental health services each year. Ask your GP for more information. You can also visit health.gov.au

Crisis support

Lifeline services are available for all Australians experiencing emotional distress with access to free 24/7 crisis support and suicide prevention services. If you, or someone you know, is experiencing emotional distress and would like to access immediate support, contact Lifeline.

Lifeline phone support: Phone 13 11 14 Australia’s largest crisis support line. Anyone in Australia can speak to a trained Crisis Supporter over the phone, any time of the day or night 24 hours / 7 days.

Lifeline Text: Text 0477 13 11 14 Australia’s first SMS-based Crisis Support service, any person in Australia can receive support from a Crisis Supporter by text message, any time of the day or night 24 hours / 7 days.

Lifeline Online Chat: The online chat service is available for people who prefer to type than talk. Any person in Australia can chat with a Crisis Supporter through the Lifeline Australia website, any time of the day or night 24 hours / 7 days.