genetic testing

3 August 2022

Read time: 4mins

Why all couples should consider Genetic Carrier Screening prior to conceiving

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If you’re starting to think about having a baby, there are several to-dos on the ‘pre-conception checklist’ for you and your partner to complete prior to trying -from visiting your GP for a pre-conception health check, ensuring immunisations are up to date, starting your pre-pregnancy supplements and more. But one thing that can be overlooked during this process is a preconception genetic carrier screening test, to identify potential genetic variations that could affect your baby’s health.

So let’s talk about it - Read more below to find out about frequently asked questions and our tips on why you should consider a genetic screening test before trying for a baby.

First things first - What are these genetic variations and why do they matter?

We all carry, in our 20,000 human genes, variations in our DNA that could affect the health of our children.  However, because we have two copies of most genes, most of the time the healthy gene over-rides the effect of the disease variation and there is no effect on your family’s health. 

Common variations of this sort include cystic fibrosis, haemophilia and sickle cell disease, just to name a few. It may be a surprise for many to learn that being a carrier of one of these genes is actually very common. It’s estimated that one in 20 Australians are a carrier for either cystic fibrosis (CF), SMA or fragile X syndrome (FXS).

However, there is no risk to your children from these variations unless your partner carries the same variation.   When that happens, your child have a 1 in 4 risk of inheriting the bad genes from both parents and being at risk of a serious disease.  It therefore makes sense to go through testing to make sure that you and your partner are not carrying the same genetic variations.

How is the genetic testing done?

It is safe and reliable and can be done on a cheek swab in the comfort of your home – no needles and no visits to a clinic.

Through Virtus Genetics, our clinics can now offer couples the chance to be informed about their genetic compatibility with their partner prior to conceiving. We have recently launched a new genetic carrier screening service, with comprehensive pre and post-test genetic counselling via telehealth.

What happens if I am identified as a carrier?

After arranging a genetic carrier screening test with Virtus Genetics, you can expect to receive your test results within 2-4 weeks via consult with a genetic counsellor. They will not only discuss your results with you, but also advise how to move forward to give you the best possible chance of having a healthy baby. Remember that, most of the time, these genetic variations will have no effect on your family.

If, however, both you and partner are carriers of a genetic variation and you are at risk of passing it on to your offspring, you may want to investigate alternative treatment options. This may include further testing in early pregnancy, using prenatal diagnostic tests such as Amniocentesis or Chorionic villus sampling (CVS). Another alternative is to perform preimplantation genetic testing in order  to select a genetically healthy embryo for transfer.

What if I am already pregnant?

Besides the genetic carrier screening tests, there are two main types of prenatal genetic tests to consider if you are already pregnant and would like to find out more about whether your baby has certain genetic disorders:

  • Prenatal screening tests: These tests determine the chances of chromosomal conditions (including down syndrome and Trisomy 18) as well as serious birth defects.
  • Prenatal diagnostic tests: These tests are performed on a cell sample from the amniotic fluid or placenta and can tell whether your fetus has the genetic condition being tested for.

It is important to remember that genetic carrier screening is still possible during pregnancy. However, you will require further tests to determine the genetic condition of your baby, if both partners are discovered to be carriers.

Let’s summarise:  

  • Genetic Carrier Screening for both partners is recommended if you are thinking of starting a family and would like to rule out the possibility of passing on a genetic condition
  • Genetic Carrier Screening is safe, reliable and can be done on a cheek swab in the comfort of your home
  • You can expect a follow-up from a Virtus Genetics genetic counsellor 2-4 weeks after performing the test to discuss your results and how to move forward
  • Genetic testing is possible during pregnancy, but it is encouraged to perform the test prior to conceiving
  • Genetic testing can help you conceive a healthy baby

To learn more or to book a genetic carrier screening test, call 1800 111 483

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