Genetic Carrier Screening

Reproductive genetic carrier screening provides you with information about your chance of having children with inherited genetic conditions. This information can be useful for reproductive planning.

At No.1 Fertility, genetic carrier screening is arranged through our accredited test laboratory Victorian Clinical Genetics Services (VCGS). VCGS is a not-for-profit genetic testing provider.

Key things to know

  • Carrier screening is relevant to everyone, including those with no family history
  • Most people find out they have a low chance of having children with an inherited genetic condition. However 1 in 50 (2%) couples will find out they have an increased chance
    • For these couples there is usually a 1 in 4 (25%) chance of having children with that condition
    • There are reproductive options available to couples with an increased chance
• 1 in 50 (2%) couples will find out they have an increased chance of having children with an inherited genetic condition

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Genes are instructions that tell our bodies how to grow and function. We all carry changes in our genes, some changes can cause genetic conditions. Genetic carrier screening tests prospective biological parents to look for gene changes that may cause serious genetic conditions in their children. This can occur when a child inherits a copy of the gene change from each parent.

• 1 in 50 (2%) couples will find out they have an increased chance of having children with an inherited genetic condition

Is this screening right for me?

Choosing to have genetic carrier screening is a personal choice. Here are some points to consider. It may help to discuss these with your partner and/or health professional before having screening.

Thinking about carrier screening

Would you use this information for reproductive planning or decision-making? Some people with an increased chance of having children with an inherited genetic condition choose to:

  • Use IVF with genetic testing of embryos to avoid having children with the condition
  • Use a donor (sperm, egg or embryo) to avoid having children with the condition
  • Adopt a child
  • Do nothing differently, with the option to test the baby after birth
  • Test during pregnancy (prenatal diagnostic testing via chorionic villus sampling or amniocentesis) with the option to continue or end an affected pregnancy

The decision to have screening is a personal choice. It is not mandatory. Every couple will make different choices. It can be helpful to speak to a Genetic Counsellor to help make this decision. Our team is here to support your decision-making.

Choose your prepair test option

prepair 3 testing and couple testing for prepair 500+ and prepair 1000+ are performed by VCGS based in Melbourne. Individual prepair 500+ testing is performed by an overseas partner lab in USA.

^ From the time the lab receives your samples
* If female receives a carrier result for CF or SMA, carrier testing for biological male is bulk billed if Medicare eligible ($220 non-Medicare eligible)

How to arrange carrier testing

If you are a current patient of No.1 Fertility and would like to arrange genetic carrier screening, contact us and we will get in touch with you

Frequently asked questions

Information for people using donors

  • Carrier screening is for the people who are, or will be, the genetic parents (male and female biological parents) of the planned or future pregnancy.
  • We understand that families come in all shapes and sizes. Our team is here to help you navigate carrier screening for your family. Contact our genetics team to discuss your specific circumstances.

What if I/we have no family history of a genetic condition?

  • Approximately 90% of individuals who are carriers of a genetic condition, do not have a family history of the genetic condition(s). Therefore, people without a family history of a genetic condition should still consider carrier screening.

What if I or my reproductive partner are ‘carrier/s’?

  • Most individuals are carriers of at least one genetic condition, even if they don’t display any symptoms. Being a carrier doesn’t necessarily mean your child will have the condition. In most cases, both partners must be carriers of the same condition for there to be an increased risk of passing it on to their children.
  • All biological females undergoing testing will find out if they are a carrier for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Fragile X (FXS).
  • Couple testing for prepair 500+ and prepair 1000+ report carrier status for other conditions only if the couple are at increased chance of having a child affected with a genetic condition.

What does an ‘increased chance’ result mean?

  • ‘Increased chance’ results mean the reproductive couple have an increased chance of having children with a genetic condition. They can choose to conceive naturally, or through IVF.
  • If they choose to conceive naturally, there are specific tests during pregnancy that can determine if the developing baby has inherited the genetic condition.
  • If they choose to have IVF treatment and create embryos, often a test can be developed for testing embryos via preimplantation genetic testing for monogenic conditions (PGT-M). This testing can determine if they are suitable for transfer (unaffected or some carriers), to reduce the chance of the genetic condition.
  • Both pathways are personal decisions and can be discussed in detail with your Fertility Specialist or Genetic Counsellor.

Can I start my IVF treatment with my carrier screening results pending?

  • Yes. However, you need to be aware there is always a small chance your results will show that you have an increased chance of having children with a genetic condition.
  • For people undertaking carrier screening, only a small proportion (about 1-2%) of people will receive an increased chance result.

Talk to us

Our genetic counselling team are here to help with any questions.

Contact us on +61 (03) 9132 9609 or

The information provided above is intended for educational purposes only and should not be used as a substitute or replacement for medical advice received from a medical professional. It is important to discuss your individual circumstances and situation with your treating doctor.

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