Reproductive genetic carrier screening can show whether you or your reproductive partner carry genetic changes that could increase the chance of a child having certain genetic conditions. It may be offered before pregnancy or during early pregnancy. Screening is a personal choice. Understanding what the test may tell you, what it cannot tell you and what support or follow-up may be available can help you decide whether it is right for you.
If a genetic condition or specific genetic change has already been identified in you, your partner or a relative, a general carrier screen may not look for that particular change.
If possible, bring a copy of the genetic report to your GP, fertility specialist, obstetrician or genetic counsellor. The team can use the specific result to work out whether targeted testing, genetic counselling or another assessment is needed.
A general carrier-screening result should not be used to rule out a condition that is already known or suspected in your family.
A carrier is someone who has a genetic change associated with a condition but usually does not have the condition themselves. Many people are carriers without knowing it, and there may be no history of the condition in their family.
Carrier screening looks for genetic changes that could increase the chance of a child having certain genetic conditions. For some conditions, the chance is increased when both reproductive partners carry a genetic change linked to the same condition. Other conditions, including some conditions linked to the X chromosome, are inherited differently.
Carrier screening can therefore be relevant even if you are healthy and there is no known genetic condition in your family. Carrier screening does not test for every genetic condition, and a low-chance result cannot rule out all genetic conditions in a future child.
Centre for Genetics Education: reproductive carrier screening fact sheet
Genetic Carrier Screening Australia: understanding carrier screening →
Queensland Health Genomics Resource Hub: Before a Pregnancy →
Medicare rebates are available for reproductive carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome for eligible people who are planning a pregnancy or already pregnant. The screening can be requested through your GP, as well as through an obstetrician, genetic counsellor or other relevant healthcare provider.
The person planning the pregnancy or pregnant is usually tested first. If they are found to be a carrier of cystic fibrosis or spinal muscular atrophy, their reproductive partner may then be offered testing. Fragile X screening is approached differently because of the way the condition is inherited.
Ask whether the test will be bulk billed and whether any consultation, collection or other fees may apply.
Expanded carrier screening looks for genetic changes associated with a broader range of conditions than the Medicare-funded screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome. Expanded carrier screening is not currently covered by Medicare and is usually paid for privately.
The number and type of conditions included vary between providers. A broader panel still does not test for every genetic condition.
Add link regarding expanded carrier screening – CGE?
Your family history, ancestry, health or other circumstances may mean that different testing or genetics advice is useful.
Screening for genetic conditions that affect haemoglobin, the protein in red blood cells, such as thalassaemia and sickle cell disease, is separate from the three-condition carrier screen.
If you and your reproductive partner have blood relatives in common, you may have some additional questions about genetics and pregnancy.
Centre for Genetics Education: information about family planning when parents are related →
The next step depends on the condition and the result.
Ask for a copy of your result and keep it with your important health information. It may remain relevant for future pregnancies and for biological relatives.
A carrier result is not the same as a diagnosis in a future child. If screening identifies an increased chance for a pregnancy, a genetic counsellor or other appropriately qualified healthcare professional can explain what the result means and the options available.
Add a line here about new treatments being available for Spinal Muscular Atrophy and Cystic Fibrosis
Genetic Carrier Screening Australia: if you find out you are a carrier →
You can take these questions to your GP, obstetrician, genetic counsellor or the healthcare professional arranging your screening.
Carrier screening may also be relevant when donor eggs, sperm or embryos are used, or when planning surrogacy. Ask the clinic what screening has been completed, whether it covers any condition known in your family, and what genetic counselling is available.
If a particular condition becomes relevant, a condition-specific organisation can provide further information and peer support.
Fragile X Association of Australia
Find a condition-specific organisation through Genetic Alliance Australia
A Genetic Health Navigator can help you work out a practical next step, prepare questions and connect with relevant information and services. GAA does not recommend tests or interpret individual results.
