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Genetic diagnosis before implantation

BMJ 1997; 315 doi: (Published 04 October 1997) Cite this as: BMJ 1997;315:828

Applications of the technique are growing

  1. Joy D A Delhanty, Professor of human geneticsa,
  2. Dagan Wells, Research fellowa,
  3. Joyce C Harper, Lecturer in human genetics and embryologyb
  1. a Galton Laboratory, University College London, London NW1 2HE
  2. b Department of Obstetrics and Gynaecology, University College London Medical School, London WC1E 6HX

    Research on the feasibility of preimplantation genetic diagnosis began in the 1980s as a result of pressure from patients. The couples concerned had experienced repeated termination of pregnancy, had moral objections to abortion, or were at risk of transmitting an X linked disorder for which the only available option was termination of all male pregnancies (of which half would be unaffected). These couples wanted to start a pregnancy with reasonable certainty that their child would be free of the familial inherited disorder. The first couples were treated in 1990 at Hammersmith Hospital and 55 couples have now been treated in Britain. This slow rate of application is about to change with the recent granting of two further treatment licences to University College London and Guy's/St Thomas's Hospital. Over the next year this will open up the opportunity for treatment to a far greater number of patients. So what can we offer in the way of genetic testing before implantation?

    Early research showed that it was possible at three days after fertilisation to remove one or two cells from an 8–10 …

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