Genetic disorder screening

PGD is a technique used to assess embryos for genetic diseases and chromosomal abnormalities. It involves the removal of one or more cells from embryos before they are transferred. The cells are then screened for any genetic disease that is known to be carried in the family. PGD can be used to look for single-gene disorders (inherited diseases caused by a single faulty gene) and chromosomal translocations. Unaffected embryos can then be selected for re-implantation. This protects resulting children from inheriting the disease.

What are the advantages of PGD?

  • It reduces the risk of passing on inherited disease: PGD allows individuals/couples with known inherited disease to have a child who is likely to be free from disease.
  • It improves IVF success rates: Genetically healthy embryos are more likely to implant and result in birth.
  • It can be used to diagnose Down Syndrome: Down syndrome is caused by an extra copy of a particular chromosome. In PGS the number of chromosomes is examined and likely cases of Down Syndrome can be identified.

Who is PGD suitable for?

PGD is primarily used for individuals/couples who are known carriers or suffers of inherited disease. There are over 4000 conditions caused by single-gene mutations which can be tested for using PGD. Some of the most common are Huntington’s disease, cystic fibrosis and sickle-cell anaemia.



Dr Tugce Pehlivan
Laboratory Manager Wimbledon

Dr Tugce Pehlivan

Tugce graduated from Istanbul University Medical Faculty in 1997 after which she pursued a career in reproductive endocrinology, clinical embryology and pre- implantation genetic diagnosis (PGD....