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This chapter deals with the issues that are discussed at an initial preimplantation genetic diagnosis (PGD) consultation, and describes the relevance and benefits of genetic counseling at this stage in the referral process. Chromosomal rearrangements initially believed to carry reproductive risk in the form of miscarriage or physical or mental disability, where family members may have considered prenatal testing, may be reevaluated and thus now represent normal variants without reproductive risk. The reproductive options for couples at risk of genetic disease will usually have been addressed by the genetic clinician prior to the referral for PGD. For many patients the time between taking a positive pregnancy test and undertaking prenatal diagnosis (PND) is a huge emotional burden that they know may end unsuccessfully. Many centers offering PGD are now able to do so for genetic disorders that may not affect an individual until adulthood, for example Huntington disease.
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