Genetic carrier screening gives individuals and couples information about their risk of having a child with one of three inherited genetic conditions, including Cystic Fibrosis (CF), Fragile X Syndrome (FXS) and Spinal Muscular Atrophy (SMA).
Many people are carriers of CF, FXS and SMA even though they do not have anybody in their family who has the condition. These conditions are not usually diagnosed during routine pregnancy testing, and a baby may be born with one of these conditions despite having a normal pregnancy and no family history.
A blood test can determine whether you or your partner are carriers for these genetic conditions. For couples at risk of having an affected child, genetic counselling is recommended. Additionally, it may be possible to test for these conditions through genetic testing of embryos (in IVF), or in the first trimester of pregnancy.
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