Reproductive Carrier Screening (RCS)

Reproductive Carrier Screening (RCS) aims to identify if a couple is at risk of having a child with a serious childhood genetic condition that has a significant impact on lifespan and/or quality of life.

RCS involves testing you and your reproductive partner to find out if you are carriers for the tested genetic conditions. These genetic conditions can either be either Autosomal Recessive or X-linked. Cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA) are among the most common genetic conditions in Australia.

1 in 240 Australian couples have a one in four (25%) chance of having a child with either CF, FXS or SMA. These three genes are included in our AssureUs 3 Gene Carrier Screening Test, which is funded by Medicare. An extended screen is also available and includes carrier testing for these three conditions plus approximately 750 other genetic conditions.

Why is RCS important?

Current Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) guidelines recommend that screening for common genetic disorders be offered to all women prior to pregnancy. Choosing to have RCS is optional and a personal choice. It may help to discuss this with your partner and doctor before deciding whether to proceed with screening. RCS can be useful in helping to make informed reproductive choices in line with your personal wishes and values.

Most couples who have had an affected child have no known family history of the condition and were not aware they had an increased risk of having an affected child due to being carriers for that genetic condition.

Testing at a glance

AssureUs 3 Gene Carrier Screening (FGX, CTFR, SMA)

AssurePlus Expanded Carrier Screening (~1300 genes)

Conditions screened: 3 of the more common inherited conditions: cystic fibrosis, fragile X syndrome and spinal muscular atrophy.

When to test: Allow for adequate family planning decisions. Ideally before pregnancy but no later than 11+6 weeks if pregnant.

Turnaround time: 2-3 weeks

Cost: Fully rebated by Medicare. $0 out-of-pocket for Medicare-eligible Australians.

Arranging: Can be ordered by registered healthcare providers.

Collection: Blood sample (or buccal swab if available) at PathWest collection centres.

Testing: Biological female is screened first and if found to be a carrier, a free-of-charge test (Medicare) of the relevant gene will be offered to her partner (full details will accompany the test report).

Results: Delivered to the requesting healthcare provider. Visit our website to learn more about what the results may mean for you and your reproductive partner.

Conditions screened: Cystic fibrosis, fragile X syndrome, spinal muscular atrophy, plus approximately 750 serious childhood onset conditions across over 1300 genes based on the Mackenzie's Mission Reproductive Carrier Screening Panel. Refer to Panel App Australiafor the full list of genes.

When to test: Allow for adequate family planning decisions. Ideally before pregnancy but no later than 11+6 weeks if pregnant.

Turnaround time: 3-4 weeks

Cost: $850 out-of-pocket per reproductive couple. There is no Medicare rebate for this test.

Arranging: Order through private genetics clinic provider.

Collection: Blood sample (or buccal swab if available) at PathWest collection centres.

Testing: Both partners are screened at the same time.

Results: Delivered to the requesting healthcare provider from the private genetics clinic. Visit our website to learn more about what the results may mean for you and your reproductive partner.

What are the possible results of RCS?

A high-risk result means that you and your reproductive partner are carriers for the same genetic condition, or that the female partner is a carrier for an X-linked condition. Genetic counselling is recommended to discuss the results and the options available.

A low-risk result means that you and your reproductive partner are not at increased risk of having a child affected with the genetic conditions that were screened. However, this does not mean that there is no risk of having a child affected by a genetic condition, as Reproductive Carrier Screening (RCS) is a screening test, and only looks at the conditions included in the list of genes.

RCS is different from, and does not replace other screening tests used during pregnancy, such as Non-invasive prenatal testing (NIPT), which assesses the risk of a baby having Down syndrome or other chromosomal conditions.

Last Updated: 13/02/2024