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Hereditary Disease

Dr. Karen Fieggen | Clinical
Hereditary Disease: Planning for the next generation. Considerations for determining risk. Genetic counselling.

Topic / Title of the Talk Hereditary Disease
Field of Medicine Genetics
Length of the Talk 22 Mins
CPD Accreditation No. MDB015/MPDP/070/108
Category of the Talk Overview
CPD Type Clinical | Subscription CPD
Languages (Translations) & Subtitles Not Translated
Speaker Dr. Karen Fieggen
Talk Description
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.

Hereditary Disease | Genetics