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)

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