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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.


