Abstract
Individuals from families in which inherited disorders have been identified frequently wish to know whether they have their family’s disease, the risk of passing the disease to their children, and the genetic status of their children including their unborn children. The guilt associated with passing the family disease to offspring, and the stress and worry for parents wondering if the child they are watching grow will later have a family disorder is incomprehensible to those who have not experienced it. The vast majority of couples at risk of passing a serious inherited disorder to their children do not wish to do so. They do not wish to subject their child to being handicapped by, or slowly or rapidly dying from, the family disease. However, one of the things frequently associated with being a couple is a desire to have one’s own children. Genetic counselling is ‘a communication process, the intent of which is to provide individuals and families having a genetic disease or at risk of such a disease with information about their condition and to provide information that would allow couples at risk to make informed reproductive decisions’ (Gelehrter and Collins, 1990). Successful genetic counselling may perhaps be defined as facilitating couples to have the pregnancy outcomes they wish including not having affected children if they do not wish to do so. The accuracy of the information provided to those seeking counselling is crucial.
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Laing, N.G. (1993). Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy. In: Partridge, T. (eds) Molecular and Cell Biology of Muscular Dystrophy. Molecular and Cell Biology of Human Diseases Series. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-1528-5_3
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