Pre-Implantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis (PDG) is used when one or both partners are known carriers of a genetic condition and wish to ensure that any children they have are not affected with the genetic condition.

PGD allows us to check a specific gene of an embryo to ensure that it is normal, prior to transfer of the embryo into the uterus. To be able to do this, we need to conduct IVF and grow the embryos in the incubator for 5 days. A day 5 embryo consists of around 100 cells, the highly skilled embryologists at Genea are then able to biopsy a few of these cells from the embryo without damaging it. The embryo is then frozen whilst analysis of the biopsied cells takes place.

The difference between pre-implantation genetic screening (PGS) and pre-implantation genetic diagnosis (PGD) is that in PGS we are checking that the correct number of each chromosome is present in the embryo, whilst with PGD we are checking one specific gene to make sure it does not contain a harmful mutation. We only conduct PGD when we know that one or both partners have a genetic mutation of a gene. By using PGD techniques, we can ensure that a baby born will not be affected by the genetic mutation carried by one or both of his/her parents. We can use PGD to exclude a large number of genetic conditions including cystic fibrosis, spinal muscular atrophy, thalassaemia, fragile X and Huntingtons disease.

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