Pre-implantation genetic diagnosis (PGD) – single gene disorder
PGD for single gene disorder is a form of an assisted conception treatment to minimise the risk of transmitting genetic disorders. This can be autosomal dominant or recessive or X-Linked, from the parents to their children.
When a gene mutates or changes, it may no longer be able to function effectively or may altogether stop functioning. This may result in development of a genetic disease in the embryo.
PGD will initially involve screening or genetics testing of the affected family members. Then, we’ll proceed with an IVF or ICSI treatment as appropriate.
Like an IVF or ICSI treatment, we give patients fertility medications to stimulate ovaries to produce multiple eggs. These eggs will be collected under sedation when they are considered to be ready for retrieval.
The eggs will be fertilised either by IVF or injected with each sperm (ICSI). A few cells will be removed from each viable embryo at blastocyst stage (day-5) and tested for the genetic disorder. The embryo that is considered suitable will be replaced back into the womb.