About this Presentation
The aim of modern genetic carrier screening is to identify genetic conditions that are severe, childhood onset and are difficult to treat, and to educate people who plan to conceive about these risks. This should ideally be done at the preconceptional stage, but all pregnant women need to be aware of the common genetic diseases that can now be tested. A negative family history of a genetic condition does not negate the need for screening for that condition, as recessive diseases are so common. It is now possible to test for hundreds of genetic conditions before or during pregnancy.
About the Expert
Dr Marina Berbic
Dr Berbic is an Adjunct Senior Lecturer in the School of Women’s and Children’s Health at the University of New South Wales, a member of the Mackenzie’s Mission (Reproductive Genetic Carrier Screening) Committee, and a member of the Splice ACORD (Australasian Consortium for RNA Diagnostics) Committee. She has a particular interest in reproductive genomics and is passionate about integrating sequencing technologies in clinical decision-making and personalised patient care.
