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.