Reproductive choices for couples at risk

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.