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Reproductive choices for couples at risk

Options available for couples at risk for having a child affected with an autosomal recessive disease.
© Wellcome Genome Campus Advanced Courses and Scientific Conferences
For couples like Lee and Lucy at risk of having a child affected by an autosomal recessive condition such as CF they have several options.

These would be discussed at a pre-conception counselling session.

  • Pregnancy and prenatal testing as described previously.
  • Pregnancy with neonatal testing.
  • Sperm and egg donation.
  • Adoption.
  • Pre-implantation Genetic Diagnosis (PGD)

PGD involves creating embryos through IVF and at an early stage in vitro the removal of a cell to be tested for the known genetic abnormality. Embryos that are unaffected are then transferred back to the mother’s uterus. In the case of a couple who are both carriers of an autosomal recessive condition such as CF this would be embryos with either no copies or one copy of a pathogenic variant.

Details of what conditions have been approved for PGD by the Human Fertilisation and Embryology Authority (HFEA).

The PGD commissioning policy for England.

© Wellcome Genome Campus Advanced Courses and Scientific Conferences
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Genomic Scenarios in Primary Care

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