Congenital Diaphragmatic Hernia (Australia)

About this Priority Setting Partnership

Congenital Diaphragmatic Hernia (CDH) is a life-threatening condition caused by a baby’s diaphragm not forming properly during pregnancy, meaning abdominal organs can move into the space where the lungs and heart are.

This life-threatening condition affects 1 in every 2,500 babies and is one of the more common congenital birth defects. Australia’s current survival rate for babies diagnosed before birth is 50%.

There is currently no known cause nor cure for CDH.

The Congenital Diaphragmatic Hernia PSP Top 10 was published in June 2024.

PSP website

Read more on the Congenital Diaphragmatic Hernia (Australia) PSP website.

Articles and publications

Find out about related publications from the Congenital Diaphragmatic Hernia (Australia) PSP.

Top 10 priorities

  1. How can we optimise the neurodevelopmental outcomes of survivors of congenital diaphragmatic hernia?
  2. How does congenital diaphragmatic hernia impact feeding and gut health and how can these outcomes be improved?
  3. What follow-up and surveillance should patients with congenital diaphragmatic hernia receive (through childhood and adulthood)?
  4. How can we best support the immediate care (transition) of babies born with congenital diaphragmatic hernia?
  5. Which infants with congenital diaphragmatic hernia would benefit from ECMO and what is the optimal timing?
  6. What are the best strategies for managing pulmonary hypertension in congenital diaphragmatic hernia and when should they be used?
  7. What are the predictors of long-term outcomes in patients with congenital diaphragmatic hernia?
  8. How can we best support lung growth and function of patients with congenital diaphragmatic hernia during their initial hospital admission?
  9. What (if any) antenatal interventions improve outcomes?
  10. What are the long term respiratory outcomes of congenital diaphragmatic hernia?

The following questions were also discussed and put in order of priority at the workshop:

  1. How does congenital diaphragmatic hernia affect the growth and development of other organs before and after birth?
  2. How do we best support the mental health and wellbeing of parents and survivors of congenital diaphragmatic hernia?
  3. How do the lungs of babies with congenital diaphragmatic hernia grow and develop with time?
  4. Can stem cells improve the growth of the underdeveloped or affected lung in congenital diaphragmatic hernia?
  5. What are the best antenatal predictors of outcome in congenital diaphragmatic hernia and how are they best measured (e.g MRI, Ultrasound)?
  6. What is the best way to support the breathing of babies born with congenital diaphragmatic hernia before surgical repair?
  7. How should follow-up care be best coordinated for patients with congenital diaphragmatic hernia?
  8. How should labour and delivery best be supported for babies with congenital diaphragmatic hernia?
  9. What causes or worsens congenital diaphragmatic hernia antenatally?
  10. How can we optimise sedation and pain relief throughout the patients admission?
  11. Does choice of inotropic medication to support blood pressure affect outcome for patients with congenital diaphragmatic hernia?