This presentations examines the issues of hereditary disease and looks at the myths around these conditions. For instance, they are not as rare as thought, with 3 – 5% of pregnancies being affected; that these conditions are not untreatable on the whole; that 90% of the burden lies in low and middle income countries; and, that prenatal diagnosis is about a lot more than just termination.

Dr Fieggen looks at considerations for determining risk. These include looking at the state of health of the father; the teratogen risk; risks associated with consanguinity; the broader family; risks of targeted populations; and, risks within the general population.

Fieggen stresses that genetic counselling is a communication process, which involves information gathering, management options, decision making and adjustment.

Dr Fieggen discusses preconception considerations, including understanding risk; optimising heath; optimising therapy; making reproductive choices; and, preparation.

She also discusses considerations to be taken into account at conception, such as pre-implantation genetic diagnosis, which is practised widely; and, nuclear transfer or ‘3 parent embryo’.

Dr Fieggen provides information on screening available during pregnancy and the prenatal diagnoses which can be done for structural abnormalities; chromosomal abnormalities; and, metabolic/infection/ molecular genetic diagnosis.

She concludes by discussing the ethical considerations and warns against eugenics.