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Genetic testing and reproductive choice in neurological disorders
  1. Omay Lee1,
  2. Mary Porteous1,2
  1. 1 Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, EH4 2XU, Edinburgh, Scotland, UK
  2. 2 South East Scotland Genetic Service, Western General Hospital, Crewe Road South, EH4 2XU, Edinburgh, Scotland, UK
  1. Correspondence to Mary Porteous, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital Campus, Edinburgh, EH4 2XU, Scotland, UK; Mary.Porteous{at}


Genetic testing is increasingly important for investigating suspected inherited neurological conditions. A genetic diagnosis can have a huge impact on patients and also their families. It is important for neurologists to appreciate the presymptomatic and prenatal testing options available to patients and their at-risk relatives once a genetic disorder is diagnosed. Asymptomatic family members can experience considerable psychological distress from the knowledge that they might have inherited a neurodegenerative condition. They may also be concerned about the risk of their children inheriting the condition. Information on reproductive options can provide hope and reassurance. This paper reviews the principles of genetic testing in neurological practice, and how they can be applied in prenatal and preimplantation genetic diagnosis. We explain the basis for direct and exclusion testing, use case examples to illustrate the process by which families are counselled and discuss the ethical implications of reproductive technologies.

  • genetic testing
  • pre-symptomatic testing
  • pre-implantation genetic diagnosis
  • prenatal testing
  • direct and exclusion testing

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  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed. This paper was reviewed by Simon Hammans, Southampton, UK.

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