Reproductive genetic carrier screening (RGCS) aims to identify couples of reproductive age who have a high chance of having children with severe or life-threatening inherited genetic disorders.

This information can be useful in guiding reproductive decision-making, pregnancy management and neonatal care. 

Professional bodies recommend that RGCS be offered to all women planning pregnancy, or in the early stages of pregnancy. To support this, MBS items for three-gene RGCS for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) were introduced in November 2023. 

This article focuses on the principles and utility of RGCS, MBS-funded testing performed so far, and practical tips for using the three-gene screen.