Helping your patients make informed choices about family planning

Reproductive carrier screening

It is estimated that each individual is a carrier of 1-5 lethal autosomal recessive disorders, with approximately 1 in 20 individuals being health carriers of the three most common conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA) or fragile X syndrome (FXS)2.

This means around 1-2% of non-consanguineous couples have a 1 in 4 chance of having a child with severe autosomal recessive or X-linked recessive condition with each pregnancy2. Most carriers do not have a prior personal or family history of these conditions and are unaware they are carriers.

The RANZOG guidelines specifically recommend that reproductive carrier screening be offered to all women prior to pregnancy1.

Testing for the three core disorders (CF, SMA,FXS) as part of pregnancy planning is free as of 1 November 2023. In addition, PathWest offers expanded carrier screening at a cost of $850 per couple which tests approximately 1300 genes associated with around 750 conditions.

Screening is carried out via blood sample of buccal swab (if available) at any one of PathWest's 75 collection centres across the state.

Our genetic testing capabilities

The RACGP program "Beware the Rare" has recommended that carrier screening be performed by a specialist genetic testing laboratory3. PathWest has been at the forefront of genetic testing in Australia, performing specialised genetic testing for over 30 years. Choosing PathWest to support your patient through their genetic testing journey gives you access to experts in genetic testing based in WA.

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. Individual carrier reports will be issued for individual tests.

 

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 Australia for 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. A combined "couple report" will be issued as either "Low Risk" or "Increased Risk". Individual carrier status will NOT be reported.

 

 

References

1. Royal Australasian and New Zealand College of Obstetrics and Gynaecology. Genetic Carrier Screening. Accessed from: https://ranzcog.edu.au/wp­content/uploads/2022/05/Genetic-carrier-screeningC-Obs-63New-March-2019_ 1.pdf on 27 November 2023 

2. Delatycki M, Laing N, Moore Set al. AJGP. Preconception and antenatal carrier screening for genetic conditions. The Royal Australasian College of General Practitioners 2019. Vol 48, No. 3, March 2019 
3. Accessed from: https://bewaretherare.com.au/wp­
content/themes/bewaretherare/pdfs/Carrier-screening_How-to-be-tested.pdf Print (bewaretherare.com.au) on 27/11/2023. 

 

Last Updated: 13/02/2024