Oxford Women’s Health recommends the Prepair test, which provides information about the chances of having a child with one of three life-changing, genetically inherited conditions - Cystic Fibrosis, Fragile X syndrome (FXS) and Spinal Muscular Atrophy. The test, developed by the Victorian Clinical Genetics Services (VCGS), is a simple saliva swab that can be taken by individuals or couples who are considering getting pregnant, or are in the early stages of pregnancy.
This is a life-threatening condition, which affects the cells that produce mucus, sweat, and digestive juices. As part of the condition, these fluids become thick and sticky, blocking the affected person’s airways and allowing viruses and bacteria to be trapped under the mucus. People with Cystic Fibrosis have a much higher risk of developing infections and serious complications from viruses that are less harmful to others.
Fragile X Syndrome (FXS)
Fragile X Syndrome causes a range of developmental problems including cognitive impairment and learning disabilities. Other features of the condition include anxiety; attention deficit; hyperactivity; autism; and epilepsy. Education, medication and behavioural therapy are used in treating Fragile X Syndrome.
Spinal Muscular Atrophy
This condition is characterised by a weakness or wasting (atrophy) of the muscles. The nerves in the spinal cord are weakened, meaning those affected typically have limited mobility, breathing problems and delayed gross motor skills. Treatments are available for managing these symptoms and improving the quality of life for those affected.
Most people are unaware that they carry the gene for any of these disorders, as there is often no family history of the conditions.
If you are considering the Prepair test, it is recommended that the female member of the couple is screened first, as FXS testing is not necessary for the male partner.
You can find out more about genetic carrier screening by making an appointment to see one of our specialists on 03 379 0555
If you are interested in non-invasive pre-natal screening, we suggest you ask your midwife or obstetrician about Illumiscreen, which is available through Southern Community Laboratories.