Pre-implantation Genetic Testing (PGT-M and PGT-SR)
Preimplantation Genetic Testing allows genetic testing of an embryo for inherited disease 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. PGT-M and PGT-SR are used during IVF treatment with the intention to identify embryos that do not have a genetic condition and to help families have healthy children.
How is PGT-M/PGT-SR 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.
Who might benefit from PGT-M and PGT-SR?
PGT-M for Monogenic/Single Gene Defects
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 PGT-M, 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 fetus was affected by the genetic condition, then the couple faced the difficult decision of whether or not to continue with the pregnancy. PGT-M can be used for diagnosis of a genetic disease in embryos prior to implantation and pregnancy.
PGT-SR for Chromosomal Structural Rearrangements
1/200 individuals is a carrier of a balanced chromosome rearrangement. PGT-SR 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. PGT-SR 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?
PGT-M 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 HFEA on your behalf, the licensing committee meet every few months when approval may be granted then.