Pre-implantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is a technique which allows genetic testing of an embryo prior to implantation and before pregnancy occurs.

This allows families affected by an inherited disease to reduce the risk of passing the condition on to the next generation. PGD is used during IVF treatment and the intention is to identify embryos that do not have the condition and use them to help families have healthy children.

How is PGD carried out?

Cells are removed from embryos created in an IVF cycle and genetic material from these cells are tested for a known specific genetic condition which exists in the family. Only embryos diagnosed as free from the genetic condition are transferred into the womb.

Pre Implantation Genetic Diagnosis
Who might benefit from PGD?

PGD for single gene disorder

Some couples or individuals are at risk of transmitting an inherited disease to their children – such as Cystic Fibrosis, Beta Thalassaemia and Fanconi Anaemia. Until PGD, if couples wished to avoid having a child with a life threatening or severely debilitating disorder, their options were limited. They could decide not to become pregnant and therefore not to have children.

Alternatively they could undergo pre-natal diagnosis between 11 – 16 weeks of pregnancy using either chorionic villus sampling (CVS) or amniocentesis. If the foetus was affected by the genetic condition, then the couple faced the difficult decision of whether or not to continue with the pregnancy. PGD can be used for diagnosis of a genetic disease in embryos prior to implantation and pregnancy.

PGD for chromosomes rearrangements

1/200 individuals is a carrier of a balanced chromosome rearrangement. PGD is available for carriers of balanced reciprocal translocations, Robertsonian translocations, inversions, and other complex chromosome rearrangements. Though carriers of balanced chromosome rearrangements are typically healthy, they are at increased risk for producing embryos with the incorrect amount of chromosomal material, resulting in reduced viability or potential for genetic disease. PGD can help identify embryos with the correct amount of chromosomal material that are most likely to lead to a successful pregnancy and healthy live birth.

What conditions can be tested for?

PGD is licensed by the HFEA… for a full list of the conditions that have currently been licensed please contact us or contact HFEA

What if the condition has not been licensed?

There are criteria for licensing a genetic condition which is listed by the HFEA. CARE Fertility can apply for a license to the JHFEA on your behalf, the licensing committee meet every few months when approval may be granted then.