Reproductive genetic carrier screening
Since 1 November 2023, Medicare has funded reproductive genetic carrier screening for three genetic conditions: cystic fibrosis, spinal muscular atrophy and fragile X syndrome.¹ It is a single blood or saliva sample, requested by your GP, and you only need it once in your lifetime.
Most people have never heard of it. It sits on the Australian preconception checklist for a reason, and this is the article that explains why.
What is reproductive genetic carrier screening?
Carrier screening tells you whether you carry a genetic change that could cause a serious condition in your child, even though you are completely healthy yourself.
Being a carrier means you have one altered copy of a gene and one working copy. The working copy does the job, so you have no symptoms and no reason to suspect anything. For most of these conditions, a child is only affected if they inherit an altered copy from both parents.
Fragile X syndrome works differently. It is passed on through the X chromosome, which means your carrier status is what determines the risk to your child, not your partner's.¹ That single difference explains most of how the Medicare test is designed, which we come to below.
The point of screening before pregnancy is not to find something wrong with you. It is to find out whether you and your partner happen to carry the same thing.
What the Medicare-funded test actually covers
The Medicare test screens three genes, in a set order, with no eligibility criteria beyond being pregnant or planning a pregnancy. Here is how each part works.
What does Medicare pay for, and will I be out of pocket?
Medicare covers two items: 73451 for the person who is pregnant or planning pregnancy, and 73452 for their reproductive partner.¹ Each has a scheduled fee of $400, with a Medicare benefit of $340, so a gap is possible depending on what your provider charges.¹
Item 73451 tests all three genes at once: CFTR for cystic fibrosis, SMN1 for spinal muscular atrophy and FMR1 for fragile X. Item 73452 tests your partner for cystic fibrosis and spinal muscular atrophy only, and only if you were found to be a carrier of one of them.¹
Both items are once per lifetime, because your genes do not change. If you have the test now and conceive in three years, the result still stands.
Ask your GP to request it by name. Not every GP raises it, and Medicare funding is recent enough that many still do not.
Why is my partner tested second rather than at the same time?
The Medicare rules require you to be tested first, then your partner only if needed.¹ This sequence is deliberate and it saves most couples a second test entirely.
The logic is straightforward. For cystic fibrosis and spinal muscular atrophy, a child is only at risk if both parents carry a change in the same gene. If you are not a carrier, testing your partner adds nothing, so most partners never need item 73452 at all.
For fragile X, your partner's status does not change your child's risk, so the funded partner test deliberately excludes it.¹
The practical consequence matters. If you and your partner test simultaneously through a private provider, the partner test may not attract a rebate, because the sequence Medicare requires has not been followed. Testing in order is the cheaper path.
Do I need a family history to be eligible?
No. Unlike most genetic tests Medicare funds, these two items have no family history or clinical criteria attached. Any Medicare-eligible person who is pregnant or planning pregnancy can have them.¹
This is the part worth sitting with, because it is where most people rule themselves out. In an Australian study of more than 12,000 people screened for these three conditions, 610 were carriers, about one in 20, and roughly 88% of those carriers had no family history of the condition.²
That is not a surprising finding once you understand what a carrier is. Carriers are healthy. The gene can pass quietly through several generations without anyone being affected, so there is nothing in the family story to notice.
RANZCOG recommends that information about carrier screening be offered to everyone planning a pregnancy or in the first trimester, regardless of family history.³
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What happens if you and your partner are both carriers
If you both carry a change in the same gene, each pregnancy has a one in four chance of being affected. Knowing this before conception is what gives you options.
In the same Australian study, 50 couples out of about 12,000 tests, roughly one in 240, were found to be at increased risk.² That is uncommon, and it is precisely why screening exists: the couples it finds would almost never have been identified any other way.
Being high risk does not decide anything for you. It opens a referral to a clinical genetics service, where the conversation covers your actual options: IVF with embryo testing, testing during a pregnancy, using a donor, adoption, or going ahead with the information in hand.
There is no correct answer here, and no one at the clinic is there to steer you toward one. The value of testing beforehand is having the conversation calmly rather than at 11 weeks pregnant.
Three genes or an expanded panel?
The Medicare test covers three conditions. Private expanded panels cover hundreds, and they are not funded, so you pay the full cost yourself.
Australia has unusually good data on what the wider panels find. Mackenzie's Mission, published in the New England Journal of Medicine in 2024, screened 9,107 couples across more than 1,200 genes. About 1.9%, roughly one in 52 couples, were newly identified as having an increased chance of having a child with one of the conditions screened.⁴
Compare that to about one in 240 couples from the three-gene study, and the wider panel clearly finds more.² ⁴ Both are research and screening programs rather than head-to-head trials, so the comparison is indicative, not a clean like-for-like.
The trade-off is cost, and a higher chance of an ambiguous result that needs a genetics appointment to interpret. Neither choice is wrong. The three-gene test is free or close to it, and it is a reasonable place to start.
What this means for you
Ask your GP for reproductive genetic carrier screening by name at your preconception visit, or at your first antenatal appointment if you are already pregnant. It fits neatly alongside your preconception blood tests, so both can be organised in one visit.
Have the test yourself first. Your partner only needs testing if you come back as a carrier for cystic fibrosis or spinal muscular atrophy, which most people will not.
Ask what the gap payment will be before you go, since it varies by provider. If you want an expanded panel, ask your GP what is available locally and what it costs.
And if you carry something, that is information, not bad news. Your GP can refer you to a clinical genetics service, and that is exactly the conversation those services exist for.
References
- Australian Government Department of Health and Aged Care. Reproductive carrier testing for cystic fibrosis, spinal muscular atrophy and fragile X syndrome, factsheet. Canberra: MBS Online; updated 22 November 2023.
- Archibald AD, Smith MJ, Burgess T, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018 May;20(5):513-523.
- Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Genetic carrier screening (C-Obs 63). Melbourne: RANZCOG.
- Kirk EP, Delatycki MB, Archibald AD, et al. Nationwide, couple-based genetic carrier screening. N Engl J Med. 2024 Nov 21;391(20):1877-1889.
Written by Bella Katahanas · BBiomedSc, MEpi · Clinical epidemiologist
I read pregnancy research so you do not have to. Australian evidence, no scare tactics. More about me
Published: 18 July 2026 · Last reviewed: 18 July 2026
How I review research: Editorial policy
Educational only, not medical advice. Full disclaimer
This article is for educational purposes only and does not constitute medical advice. Research findings describe patterns across populations and may not apply to you. Always discuss your own situation with your GP, midwife or obstetrician.
