Family planning

If you, or a close relative, are living with a genetic sight loss condition, there may be a chance that your children will inherit it.

The likelihood of passing the condition on will vary considerably between families depending on inheritance pattern, and it can be helpful to discuss your own situation with a genetic counsellor. A genetic test result can also help to confirm the likelihood of children inheriting the condition. Your GP or ophthalmologist can refer you for free NHS genetic testing and genetic counselling.

If you are thinking of starting or expanding your family and you have concerns about your child inheriting a sight loss condition, there are choices available to you. A genetic counsellor can explain and discuss the options. Some options are only available if genetic testing has confirmed which genetic fault you are carrying; other choices do not rely on this.

Options include:

  • natural conception without testing during pregnancy;
  • natural conception with genetic testing of the foetus during pregnancy via amniocentesis or chorionic villus sampling (requires parent to have genetic test result);
  • egg / sperm donation;
  • Pre-Implantation Genetic Testing (PGT-M, also known as pre-implantation genetic diagnosis) – this is a special type of IVF where only those embryos not carrying the affected gene are selected for implantation (requires parent to have genetic test result; eligibility unrelated to fertility status);
  • considering the possibility of adopting.

Decisions around family planning are very individual; they can be complex and may cause considerable anxiety, but support is available. A genetic counsellor can spend time discussing your options and will help you reach a decision that is right for you. The following organisations also provide more detailed information:

Genetic Alliance (information on all testing options)

Antenatal Results & Choices (information mainly on testing during pregnancy, with decision-making support available): helpline 0207 713 7486

Gene People (information on all aspects of living with inherited conditions, with support available from genetic counsellors): genetic counsellor-led helpline 0800 987 8987

Human Fertilisation & Embryology Authority (UK authority governing procedures such as PGT-M, egg/sperm donation etc.)

With thanks for Jo Lowndes, Principal Genetic Counsellor at the Oxford Centre for Genomic Medicine, for her help in reviewing this information.