Prenatal diagnosis for huntington's disease: A molecular and psychological study |
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| Authors: | Amanda Spurdle Jennifer Kromberg Jennifer Rosendorff Trefor Jenkins |
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| Affiliation: | 1. MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, Johannesburg, South Africa;2. SA Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa |
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| Abstract: | Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband. |
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| Keywords: | Huntington's disease Prenatal diagnosis Molecular studies Psychological reactions |
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