By Dr Sandra Cabot

Screening for common genetic problems that could affect your child became available in November 2023 bulk billed on Medicare.

Common and devastating genetic conditions that can be passed onto your child include –

• Cystic Fibrosis (CF) is a severe lung and intestinal disease affecting approximately one in 2,500 people.
• Spinal Muscular Atrophy (SMA) is a severe disease of the muscles and nerves affecting approximately 1 in 6,000 people.
• Fragile X Syndrome (FXS) is the most common form of intellectual disability affecting 1 in 3,600 men and 1 in 6,000 women.

The genetic screening test is so worthwhile because –

• One in 20 people are carriers of one of these genes.
• 90% of carriers have no family history of these diseases.
• One in 160 couples are at risk of having an affected child.

Genetic carrier screening should be a routine test for pre and early pregnancy care and can be done by GPs. The test requires a simple blood sample, and results are available within weeks.

Ideally this genetic testing should be done before pregnancy as this offers more reproductive choices including donor eggs or donor sperm or pre-implantation genetic diagnosis through IVF.