Preconception Screening

Preconception carrier screening can identify individuals or couples at high risk of having a child with a serious heritable disorder. These people are carriers of autosomal recessive or X-linked recessive conditions.

We can offer a preconception carrier screening panel for three common disorders:

  • Cystic fibrosis (CF)
  • Spinal muscular atrophy (SMA)
  • Fragile X syndrome (FXS)

We also provide genetic screening for alpha-thalassaemia in people with haematological results that suggest they could be carriers.

The enclosed doctor brochure outlines the rationale and process for testing. We recommend that testing of both partners be performed prior to conception. The tests can also be done in early pregnancy.