Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners

Abstract

Background General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child. Genetic carrier screening can identify the chance of couples having children with recessively inherited genetic conditions. The 2018 federal budget announced Mackenzie's Mission, a $20 million Medical Research Future Fund project investigating how such screening could be offered to all couples who wish to access it. Objectives The aim of this paper is to discuss historical and current screening methodologies, options for individuals and couples identified as having a high chance of having a child with a genetic condition, ..