Preimplantation Genetic Diagnosis – PGD

PGD is a procedure for testing embryos resulting from IVF for the presence of specific single-gene disorders. Preimplantation Genetic Diagnosis reduces the risk of passing on hereditary diseases such as cystic fibrosis and sickle cell anaemia.

PGD is available for every hereditary disease with a known genetic mutation. So far, over 250 genetic diseases have been approved for testing, including Thalassaemia, Cystic Fibrosis, Muscular Dystrophy, etc.

When it is recommended

Preimplantation Genetic Diagnosis is recommended in the following cases:

  • Couples with a history of pregnancy termination due to serious genetic disease
  • Families with a child that suffers from a genetic disease
  • Couples with a family history of genetic diseases
  • Couples where one or both partners carry structural chromosomal abnormalities
  • Couples with a history of sex-linked genetic disease, such as haemophilia

How it is implemented

The procedure for preimplantation genetic diagnosis is the same as for preimplantation genetic screening, with the difference that in PGD only the genotype associated with the specific single-gene disease is tested, without chromosomal testing.