Pre-implantation genetic diagnosis for aniridia

It is possible to avoid passing on aniridia to children using pre-implantation genetic diagnosis (PGD)

What is PGD?

PGD is a treatment available to partners who want to have a child and have a risk of passing on a serious inherited illness, such as aniridia, to their child. It involves:

  1. collecting ovum and sperm from both the female and male parents
  2. in a laboratory, using in vitro fertilisation (IVF) and growing the resulting embryos (also known as a test-tube baby)
  3. testing the embryos for the genetic condition
  4. selecting embryos that do not have the genetic condition
    1. placing one in the mothers womb to hopefully continue to develop, leading to pregnancy
    2. usually freezing any others for use in future if desired

Who can have PGD?

PGD may be offered to anyone who:

  • has ended previous pregnancies because of a serious genetic condition
  • already has a child with a serious genetic condition and want to avoid this happening again
  • has a family history of a serious genetic condition, or
  • has a family history of chromosome problems.

Most cases of aniridia are caused by a mutation in a gene known as PAX6. This gene has what is a dominant inheritance pattern which means that an individual with aniridia will have a 50% chance of passing on the gene to each child they have. This is the case regardless of whether they inherited aniridia (familial) or it happened sporadically.

People who do not have aniridia gene mutation cannot pass it on to their children.

Therefore most couples who might be considering PGD for aniridia would be those where one or both members of the couple have aniridia.

Anyone who would like to understand more about their individual risk of passing on aniridia to their child or having a second child with aniridia should speak to their GP and ask to be referred to a genetic counsellor. Genetic counsellors can arrange for genetic testing to confirm if your own or your child’s aniridia is inherited or sporadic and to confirm the gene responsible. They can explain the results and the likelihood of passing on aniridia.

Is PGD available in the UK on the NHS?

Whether you can get PGD through the National Health Service can depend on your circumstances and where you live. Your GP or genetic counsellor can advise you further.

Is PGD available in Ireland?

A small number of private clinics do offer a PGD service. The genetic screening of the embryos is carried out overseas.

Is PGD necessary for people affected by aniridia?

This is entirely a personal decision.

As with any medical procedure, the possible benefits and risks should be discussed with your doctor, including that a cycle of IVF including PGD is not guaranteed to lead to a pregnancy.

The decision to allow PGD for aniridia was taken by the Human Fertilisation & Embryology Authority (HFEA) with input from Aniridia Network UK.

At Aniridia Network UK we believe people with aniridia can have fulfilling lives and contribute to society. We also believe that people should have accurate and up-to-date information about all aspects of aniridia. We hope the details here help you to make the right decision for you.

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