Donor Program

Expanded Genetic Carrier Screening

Many people are carriers of recessive genetic conditions and don’t know it. Being a carrier means that you inherited a normal gene from one parent and a gene with an irregularity, also called a mutation, from the other. For recessive conditions, if you have one normal copy of a gene, you typically don’t have any symptoms.

Patients who wish to conceive using donor sperm are required to undertake genetic carrier screening if their donor is known to be a carrier of a recessive genetic condition. Reproductive carrier screening is a simple saliva DNA test that can determine if you and your donor are carriers of the same condition. If you are, this increases the chance of having an affected child.

You are not required to have expanded carrier screening if you have chosen a donor:

• who at the time of donation had limited genetic screening, or
• that was considered a non-carrier after expanded carrier screening

However, it should still be something you consider, as there are genetic conditions inherited only through the female line (see X-linked conditions diagram below) that you could be at risk of passing on. Our team can provide you with more information on this when you are choosing your donor.

What does expanded carrier screening test for?

Recessive Conditions:

Carriers of recessive conditions are typically healthy and show no signs of the condition. However, if both reproductive parents are carriers of the same condition, there’s a one-in-four chance their children could inherit it (see image below). Cystic fibrosis and spinal muscular atrophy are the most common examples of these recessive conditions.

X-linked Conditions:

We can also test for recessive conditions on the X chromosome in females. These have a slightly different inheritance pattern (see the image below). The most common example of this is a condition called fragile X syndrome.

The Eugene Comprehensive Carrier Screen

There are many carrier screen providers in the marketplace who offer a variety of panels. Reproductive carrier screening is an evolving field and our donors would have been screened with the most appropriate panel at the time of their donation. To encompass the various genes tested in our local and overseas donors, we have partnered with Eugene who have curated a specialised 550 gene panel. While this panel may not exactly match your donor's panel, it will include the gene(s) your donor is a carrier for.

Because it's likely that we are not testing you on the exact panel your donor had, you may discover through this process that you are a carrier for a condition that your donor was not tested for. In this situation, we will ensure that you have adequate genetic counselling to understand residual reproductive risk. We can also explore if we have any alternative donors who were tested for your condition.

Carrier screening process for the Flinders Fertility donor program:

• Our team will send Eugene a referral with your contact information.
• A Eugene representative will contact you via email/SMS with a link to pay for your test and complete the test education and consent.
• Eugene will post a saliva kit to your address with clear instructions on how to collect your saliva sample.
• Your kit will include a pre-paid postage bag to ship your sample back to Eugene. This can be dropped in an Australia Post mailbox or taken to your local post office.
• Results will be available in 4 – 6 weeks and a genetic counsellor from Eugene will be in touch to discuss you and your donor’s result.
• Our team at Flinders Fertility will receive a copy of your Lab report to check the compatibility with your chosen donor and provide alternative donor profiles if needed.
• Eugene will provide you with a donor-matched custom report alongside the Laboratory report for your result.
• Your Doctor will review these reports with you at your next appointment.