Genetic testing options to consider before falling pregnant
Genetic testing in 2018
There are lots and lots of new tests becoming available, so much so that it is hard to keep up with the pace of change.
Don’t ask a question if you don’t want to know the answer. Sometimes knowing that you are at an increased risk of passing along a significant medical condition to your children just makes you worry. Some people may not be able to decide what to do if they find out that their baby is affected. Other people want to know and are very clear about what they would do with that information.
History matters:
Your pregnancy history is important
Have you had recurrent miscarriages or a stillborn baby?
Any history of babies born with medical conditions?
Your family history is important
This includes your siblings, your parents, your cousins, aunts, uncles and grandparents
Your ethnicity is important
We can’t test for everything:
Lots of relatively common conditions including autism, learning disorders, cerebral palsy, speech and hearing troubles simply don’t show on any tests we can do now
Some of the conditions we can test to see if you might be a carrier for include:
Thalassaemia
Cystic Fibrosis
Spinal muscle atrophy
Fragile X syndrome
Lots of rare but important conditions (too many to list)
Tests that are covered by medicare:
Cystic Fibrosis (CF) Spinal muscle atrophy (SMA) and Fragile X syndrome (FXS) testing is covered ONCE in a lifetime if you are planning a pregnancy or pregnant. If the female partner tests positive, there is funding for the male partner and if both are positive, there is some (limited) funding for IVF
If you forget that you have had this test, it costs more than $400 to repeat it. As the result will never change (you either are a carrier or you are not), please don’t forget!!
These tests are NOT covered by Medicare*:
Genetic counsellors cost ~ $180 - $250 for a consultation and there are telehealth options
The larger panels which test for more than 500 conditions cost ~$750-1500
Genetic counsellors may have access to more cost-effective options
There are a number of excellent online resources e.g. VCGS, Sonic, Pregnancy, birth & baby
*costings accurate as of February 2024, Australian dollars