Basic Genetics for PGD

  • Frances Flinter
  • Fiona Stewart


Most couples planning a pregnancy can do so in the knowledge that they have only a small chance of having a baby with a genetic abnormality. A few are aware, that because one or both of them carry a mutation or chromosome rearrangement, they face a significant chance of conceiving a pregnancy that has inherited a serious genetic abnormality. Understanding basic genetics and the nature of genetic inheritance is key to appreciating the risk and evaluating the options that may be available to avoid transmission of genetic diseases to subsequent generations.


Down Syndrome Prenatal Diagnosis Spinal Muscular Atrophy Turner Syndrome Duchenne Muscular Dystrophy 
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Further Reading

  1. Bradley-Smith G, Hope S, Firth H, Hurst J. Oxford handbook of genetics. Oxford/New York: OUP; 2010.Google Scholar
  2. Firth H, Hurst J. Oxford desk reference: clinical genetics. Oxford/New York: OUP; 2005.Google Scholar
  3. Harper P. Practical genetic counselling. 7th ed. London: Hodder Arnold; 2010.Google Scholar
  4. National genetics education and development centre.
  5. Read A, Donnai D. New clinical genetics. Bloxham/Oxfordshire: Scion; 2007.Google Scholar
  6. Turnpenny P, Ellard S. Emery’s elements of medical genetics. 12th ed. Edinburgh/London/New York: Elsevier; 2005.Google Scholar

Copyright information

© Springer-Verlag London 2014

Authors and Affiliations

  1. 1.Clinical Genetics DepartmentGuy’s and St. Thomas Hospital NHS Foundation TrustLondonUK
  2. 2.N. Ireland Regional Genetics ServiceBelfast City HospitalBelfastUK

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