DiGeorge syndrome is caused when part of a gene is missing from a person's DNA.
Normally a bit of DNA was missing from the egg or sperm that led to the pregnancy. This is known as 22q11 deletion. This happens by chance when sperm and eggs are made.
It is not a result of anything you do before or during the pregnancy.
In these cases, there's usually no family history of DiGeorge syndrome. The risk of it happening again to other children is very small.
Sometimes the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome.
Some adults are only diagnosed after their child is diagnosed. This can happen because they have not had many medical issues, and awareness of the condition is still low.
Risks for future pregnancies
If neither parent has DiGeorge syndrome, the risk of having another child with it is less than 1 in 100.
If 1 parent has the condition, they have a 1 in 2 chance of passing it on to their child. This applies to each pregnancy.
Non-urgent advice: Contact your GP if
you're planning a pregnancy and you have a:
- family history of DiGeorge syndrome
- child with DiGeorge syndrome
Your GP may refer you for genetic counselling and advice.
They will also talk to you about your level of risk and discuss your options.
Diagnosis
The following tests are available to diagnose DiGeorge syndrome.
Blood test
A blood test can show if you or your partner have the genetic change that causes DiGeorge syndrome.
Tests during pregnancy
You can have tests during pregnancy to check if your baby has the genetic change that causes the condition.
These tests include:
Testing as part of specialist fertility treatment
Pre-implantation genetic diagnosis is a type of IVF. Eggs are fertilised in a laboratory and embryos are tested for genetic changes before they are placed in the womb.
But you have to pay for this. It is not offered as part of free public maternity services. If it's not available in your hospital, you can get the tests done privately.