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.
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:
Spinal muscle atrophy
Fragile X syndrome
Lots of rare but important conditions (too many to list)
The tests are NOT covered by Medicare:
Genetic counsellors cost ~ $150 for a consultation and there are telehealth options
Cystic Fibrosis (CF) Spinal muscle atrophy (SMA) and Fragile X syndrome (FXS) together cost ~ $400
The larger panels which test for more than 500 conditions cost ~$750-1000
Genetic counsellors may have access to more cost-effective options