Reproductive Carrier Screening

Reproductive carrier screening is aimed at identifying couples at a high chance of having a child with an inherited genetic condition. This has previously been available at a cost to couples planning pregnancy or in early pregnancy. New Medicare rebates from November 2023 will change this to cover or significantly decrease the out-of-pocket costs. With testing becoming more accessible and public knowledge increasing, requests and referrals are predicted to increase.

Reproductive carrier screening involves testing couples to identify healthy ‘carriers’ of heritable genetic conditions. Options for screening vary in the number of conditions screened, cost, and time to results. While many people are carriers for at least one heritable genetic condition, this screening seeks to identify couples who are both carriers of the same condition. If both partners are carriers for the same autosomal recessive condition, there is a 1 in 4 chance of each pregnancy being affected. This screening also often includes X-linked conditions, where carrier mothers are at a 1 in 4 chance of having an affected son.

For those found to be at a high chance of having a pregnancy affected by these conditions, options exist both pre-pregnancy (pre-implantation genetic testing in IVF, use of donor egg or sperm) and during pregnancy (diagnostic testing through chorionic villus sampling or amniocentesis). These couples can be referred on to clinical genetic services to meet with genetic counsellors to understand, adapt, and make informed decisions based on these results.

While clinical genetic services are specially equipped to counsel patients on high chance results, general population screening and counselling for low chance results is likely to occur through primary care physicians. Choosing the right test for each patient, interpreting and conveying results are likely to be new considerations for many in this space.

Please see RANZCOG Reproductive Carrier Screening leaflet for more information.

Specialist Outpatient Clinic Referrals:

GP referrals are an important aspect of our service. Mercy Hospital for Women accepts referrals via HealthLink SmartForms, containing complete clinical information as per the Statewide Referral Criteria for Specialist Clinics. Incomplete referrals are not accepted and will be sent back to the referring practitioner. This can delay the required treatment for your patient and further increase their waiting time.

To ensure your referral is accepted, please include all current and relevant:

• Pathology and imaging results
• Past medical, gynaecological and obstetric history
• Findings from a physical examination
• Weight and height
• Menstrual history
• Management of condition to date, i.e. medications, etc.
• If applicable, impact on quality of life and activities of daily living
• Any other information as specified in the Statewide Referral Criteria

Visit our Genetics Services or Refer a Patient website for more information, or call us on 8458 4346.