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.

Betsy Peach, genetic counsellor, and I discuss testing options in early pregnancy for genetic conditions.

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)

The tests are NOT covered by Medicare*:

  • Genetic counsellors cost ~ $150 for a consultation and there are telehealth options

  • NIPT costs ~ $400

  • 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

    *costings accurate as of December 2018, Australian dollars