Preconception Genetics

At First Light Genetics we provide preconception genetic screening and counselling to people who:

  • Would like to know if they are a carrier of a serious genetic condition that could be passed down to their children. A genetic carrier is a person who has a change (variant) in one copy of a gene that can cause a health condition but is showing no signs of the condition.
  • Have a family history of a genetic condition and would like to know if they have a genetic variant that may be passed down to their children.

About reproductive carrier screening

Reproductive carrier screening is a genetic test that is done before or during the early stages of pregnancy. This testing can detect variants in the genetic makeup of one or both partners that could be passed down to their children and cause a serious health condition.

Even if there is no family history of a genetic condition, a baby may still develop a genetic condition if one or both of their parents are genetic carriers. Most people are not aware they are carriers of a genetic condition that could be passed down to their baby.

Genetic conditions may be passed down via autosomal recessive or X-linked inheritance. For more information about genetic conditions and inheritance, see the FAQs below.

Results of reproductive carrier screening

The results of reproductive carrier screening can show if a couple has an increased likelihood of having a child with a specific genetic condition. For most couples, the results reassure them that their baby is unlikely to develop the conditions included in the screening test.

If the test indicates one or both partners are a carrier of a genetic condition, this information can help the couple:

  • Prepare for the possibility they may have a child with a genetic condition
  • Decide whether to have testing once they are pregnant, to see if their baby is affected by the condition
  • Consider other options for having a baby, such in vitro fertilisation (IVF) and preimplantation genetic diagnosis, egg or sperm donation, or adoption.

This fact sheet gives more information about reproductive carrier screening.

Types of reproductive carrier screening

There are three main types of reproductive carrier screening:

  • A test called the 3 gene panel that detects changes in the genes (the basic units of inheritance) that cause cystic fibrosis, Fragile X syndrome, and spinal muscular atrophy.
    • Around 1 in 20 people in Australia are carriers of cystic fibrosis, Fragile X syndrome or spinal muscular atrophy.
    • Around 1 in 240 couples have an increased chance of having a child with one of these conditions.
    • In Australia, the cost of the 3-gene reproductive carrier screening test for cystic fibrosis, Fragile X syndrome and spinal muscular atrophy is now covered by Medicare*.
  • A wider test that can detect changes in around 400 genes.
  • A more comprehensive  test that can detect changes in more than 1,000 genes.

*Note: Medicare covers the cost of the test only

Reproductive carrier screening at First Light Genetics

At First Light Genetics we will support you across your entire journey, by:

  • Helping you decide if reproductive carrier screening is right for you
  • Helping you understand and choose from the available tests
  • Organising testing and explaining the results
  • Providing information and counselling both before and after testing

Frequently asked questions

Usually either a blood sample or cheek swab (light scrape of the skin inside the cheek) is taken.

Screening is best done before becoming pregnant, as this offers more time to make informed choices.

These tests look at the health of the baby. Reproductive carrier screening is usually done before pregnancy. It looks at whether the parents are carriers of genetic variants that may cause a genetic condition in their future children.

Inheritance is a word used to describe the way genes are passed from a parent to their child. Two types of inheritance are relevant for reproductive carrier screening: autosomal recessive and X-linked.

  • Conditions with autosomal recessive inheritance develop when both parents are carriers of that condition.
  • Conditions with X-linked inheritance can develop when only oneparent – the mother – is a carrier of that condition.

Usually both partners are tested. However, the male partner does not always need to be tested. Dr Mohammad and his team can discuss this with you at your first appointment.

No. Not all babies born to parents who are carriers will develop the condition. It depends on the condition and how the gene is passed down (inherited) from the parent. For example, for cystic fibrosis and spinal muscular atrophy, there is a 1 in 4 chance (25%) that two carriers will have a baby with the condition.

It means your baby is unlikely to develop the genetic conditions that were screened for. There are many other genetic conditions that we cannot screen for. The likelihood of your baby being born with one of these conditions is the same as for the general population.

In Australia, the 3 gene panel is free for people who are covered by Medicare. The wider tests cost $500 or more per person. We can provide exact costs at your first appointment.

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