Reproductive screening for fragile X, spinal muscular atrophy and cystic fibrosis to be added to MBS

Reproductive carrier screening for fragile X syndrome (FXS), spinal muscular atrophy (SMA) and cystic fibrosis (CF) will be listed on the Medicare Benefits Schedule (MBS). Available from 1 November 2023, the new items will support individuals who are pregnant or are planning a pregnancy, and their reproductive partners, to understand their risk of passing on these genetic conditions and inform decisions concerning the pregnancy.

HGSA is currently working with RCPA and others to develop best practice information for laboratories looking to offer this testing.