What is Standard Carrier Screening?
Standard screens one person, usually the female partner, for the three conditions Medicare funds: cystic fibrosis, spinal muscular atrophy and fragile X syndrome. Here’s what that means and how your partner fits in.
What it looks at
Genes are pieces of DNA that help tell our bodies how to grow and work. We all have small differences in our genes. Most do not cause any problems.
Sometimes, a difference in a gene can cause an inherited condition if it is passed on in a particular way. Carrier screening looks for these specific differences.
For example, screening commonly includes:
Cystic fibrosis, which mainly affects the lungs and digestive system.
Spinal muscular atrophy, which affects the nerves that control muscles and can cause serious muscle weakness.
Fragile X syndrome, which can affect learning, development and behaviour.
Different carrier screens look at different numbers of conditions. Expanded screening looks across many more genes than the standard three-condition screen.
How your result works
Standard tests one of you first, usually the female partner.
Cystic fibrosis and SMA only affect a pregnancy when both partners carry a change in the same gene, so if you carry one, your partner can be tested next, and Medicare covers that too.
Fragile X is passed on through the mother, so her result tells you what you need to know on its own.
If you and your partner show an increased chance, a genetic counsellor talks you through what it means for your plans, at no extra cost.
What a result tells you
A carrier result does not mean your child will have a condition.
For many conditions, your partner’s result helps show whether there is an increased chance for a future child.
A clear result also does not rule out every genetic condition.
A clearer place to start.
Carrier screening helps you know where you stand and plan for your family with peace of mind.