Below is some basic information about CDH which I have obtained from the CHERUBS website including some extracts taken from an article written by Lesli A. Taylor, MD.
CDH is caused by the diaphragm not closing or not forming at around 8 weeks gestation. Organs that should have been in the abdominal cavity (for example the stomach, bowel, liver, etc.) can then float freely into the chest cavity, taking up valuable lung space.
"The diaphragm is a broad muscle that creates respiration of the lungs by contracting and relaxing." Lesli A. Taylor, MD
What causes CDH is not yet known. It can run in families with genetic problems but it can also happen to other families. Studies also show that certain environmental factors might cause CDH; such as exposure to chemicals like Nitrofen or pesticides, excessive Vitamin A and Folic Acid.
Because the cause is not yet known there is not anything that can be done to prevent CDH. Taking pre-natal vitamins is a plus- but taking too much can be harmful. There is just no way of knowing how to prevent CDH right a way and parents can't blame themselves for not knowing how to prevent it.
"Surgery is required to return the abdominal organs to the abdomen and to repair the diaphragm. There is no surgery at present to repair the lung insufficiency. Lung transplant has been used to replace deficient lungs in diaphragmatic hernia, but this is experimental and obtaining donor lungs for newborns is extremely difficult." Lesli A. Taylor, MD
CDH occurs in about 1 in every 2500 babies. This birth defect is therefore not rare but it is still not considered a "common" birth defect.
Without a family history of CDH or genetic abnormality in the baby, the chances of having a sibling also born with CDH is as low as 2%.
With today's technology CDH is being detected by ultrasound in some cases earlier than 16 weeks gestation, however it is more likely to be detected from 18 weeks onwards. Unfortunately, CDH still goes undetected until birth in a large number of cases.
The survival rate of CDH babies is approximately 50%. Each baby is different and encounters different problems at birth. Unfortunately there are no guarantees with CDH.
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