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I have a genetic disease in my family

Embryo testing and treatments can help people with a serious inherited disease in their family avoid passing the disease onto any children they might have. They can also be used to treat an existing child with certain conditions. Find out more about embryo testing and treatments.

Your choices for having a healthy family

If you or a family member has a serious genetic condition, you may be worried about one or more of your children inheriting that condition. In these cases, you have several options available to try and make sure the condition isn’t passed down to the next generation.

You can have your embryos tested (or screened) during IVF so that only healthy embryos are placed back in the womb. You may be able to have mitochondrial donation treatment if you have mitochondrial disease.You can consider using donor sperm, eggs or embryos or exploring adoption. There is also the option of having one or two tests during pregnancy: a chorionic villus sampling (CVS) test or an amniocentesis test which can be used to test for hundreds of genetic conditions. If the tests come back positive you can then consider how you want to proceed with the pregnancy.

Find out more about screening in pregnancy from the NHS

Thinking through the issues

Having these kinds of treatments isn’t for everyone as in most cases it involves discarding embryos that carry the disease and only placing healthy embryos in the womb. Some people take comfort from knowing that their children won’t suffer from a serious disease, others prefer to let nature take its course. If you have any of these treatments, your clinic will give you counselling to help you think through all the issues, however, it’s worth exploring other avenues of information and support. The Genetic Alliance represents a network of charities supporting people with different genetic conditions and may be a good place to start.

Your treatment options

Pre-implantation genetic testing for monogenic disorders (PGT-M)

PGT-M, previously known as preimplantation genetic diagnosis (PGD), can be used with IVF to ensure people who have an inheritable condition in their family avoid passing it to their children. It can be used to find one of nearly 400 rare genetic conditions in embryos, including Haemophilia A and B, Macular Dystrophy, Downs Syndrome, Parkinson’s disease 1 and 4, sickle cell anaemia, Cystic Fibrosis and early onset Alzheimer’s. Patients then have the choice of only placing healthy embryos into the womb.

Find out more about PGT-M

Pre-implantation genetic testing for aneuploidy (PGT-A)

PGT-A (previously known as preimplantation genetic screening or PGS), is mostly used in cases where women have had several miscarriages or failed IVF treatment and want to test their embryos for any problems which might result in another failed treatment. It can also be used to check embryos for chromosome problems such as Down’s Syndrome.

Find out more about PGT-A

Pre-implantation tissue typing (PTT)

PTT is sometimes called ‘Saviour Sibling’ technology. It’s one of the best available treatments for families where an existing child has a life-limiting blood disorder such as beta thalassaemia, Fanconi’s anaemia or Diamond Blackfan anaemia and they need a donor that cannot be found from a tissue bank or existing relative. PTT offers parents the chance to have a child who is a tissue-match to their older sibling and can therefore be a donor in their treatment.

Find out more about PTT

Mitochondrial donation treatment

Mitochondrial donation treatment can be used by people who are at risk of passing on a serious mitochondrial disease to any children they might have. The treatment involves transferring nuclear genetic material (the genes that make you, you) from the mother’s eggs or embryos into the eggs or embryos of a donor with healthy mitochondria. Any children would still be the mother’s and father’s biologically but without the mitochondria that cause the disease.

Find out more about Mitochondrial donation treatment

Funding

Whether you can access NHS funding for embryo testing and treatments depends on a number of different factors, including how serious the condition is, what the likelihood is of a future child inheriting it and whether you meet eligibility criteria. If you’re thinking about having a family you should go and see your GP to discuss all your options and explore what’s available on the NHS. Alternatively you could consider having treatment privately. 

Find out more about funding and costs of treatment

Publication date: 1 September 2023

Review date: 1 September 2025