Genetic testing options to consider in early pregnancy
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. Finding out that your baby has a significant medical condition which means their life will be shortened or more complicated than most is always difficult. Some people may not be able to decide what to do with this information. Other people want to know and are very clear about what they would do with that information. Please consider what you would do with what you find BEFORE you have any testing.
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
Ideally, we would know this before you fall pregnant, but if not, the sooner we decide on what, if any, testing would be appropriate for you, the better
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
The Non-Invasive Prenatal Test (NIPT):
NIPT, a blood test, can be done from 10 weeks
Does not tell us about structural issues such as heart defects or certain skull, spine and tummy troubles
It is still recommended to have a detailed anatomy scan at the end of the first third of your pregnancy, even if you are having the NIPT
Is very good at detecting Down Syndrome
Is not as accurate for identifying Trisomy 13, Trisomy 18, Turner or Klinefelter Syndrome
If it detects a high risk pregnancy, further testing to confirm the diagnosis is always recommended
Some of the conditions we can test to see if you and your partner 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
NIPT costs ~ $425
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