Pre-implantation genetic diagnosis (PGD) – single gene disorder

PGD for single gene disorder is a form of IVF treatment or fertility 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 at our London fertility clinic. Then, we’ll proceed with an IVF/ICSI treatment as appropriate.

At our IVF clinic London, 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. At embryo transfer, only mutation free embryos or those that may not manifest the disease will be replaced.

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