Information for people with a faulty BRCA or TP53 gene
If you or your partner has been found to carry a faulty BRCA1, BRCA2 or TP53 gene, there is a 50:50 chance that the faulty gene will be passed on to each child you have.
This chance of passing on an increased risk of breast cancer is a concern for some prospective parents. Most choose to conceive naturally. Other options include:
- In vitro fertilisation (IVF) using a donor egg or sperm
- A specialist form of IVF called pre-implantation genetic diagnosis which ensures the baby will not have the faulty gene
- Prenatal testing (chronic villus sampling or amniocentesis) which checks to see if the baby has inherited a BRCA1, BRCA2 or TP53 gene mutation
Your GP or genetics specialist can explain the options available to you and let you know where you can get more advice and information. We explain pre-implantation genetic diagnosis below.
Pre-implantation genetic diagnosis for prospective parents with a BRCA1, BRCA2 or TP53 gene fault
In some areas of the country, it is now possible for prospective parents to make use of a specialist form of IVF to ensure that a faulty BRCA1, BRCA2 or TP53 gene is not passed down to their children. This is called pre-implantation genetic diagnosis.
It involves a couple’s embryos being tested for a specific gene fault, so that only embryos free from a particular genetic condition are implanted in the womb.
It requires prospective parents to have IVF treatment, where the eggs are harvested and fertilised outside the body. The fertilised embryos are grown in the laboratory for a couple of days until they consist of eight or 10 cells. At this point an embryologist will remove one or two of the cells from each embryo and test them for the particular gene fault running in the family. Embryos without the gene fault can then be then implanted in the mother’s womb.
If this option is not available to you or is not the action you wish to take, an alternative is to use a sperm or egg donor. If you take this route, your child will share the genes of only one of you.
Unfortunately, pre-implantation genetic diagnosis will not be successful in leading to a child in every case. Your fertility specialist can let you know the chances of it leading to a child in your case. Most couples can have two or three cycles of IVF with pre-implantation genetic diagnosis on the NHS.
Making a decision
The decision to screen embryos to see whether they have a faulty breast cancer gene or to use egg or sperm donation is a complex and very personal choice for you and your partner. What might be right for one couple may not be right for another.
Remember that there are other options too, such as conceiving naturally or adopting. It’s important for anyone affected to have appropriate information and support so they can make the right choice for them.
If you’re considering pre-implantation genetic diagnosis or egg or sperm donation, talk to your GP or genetics specialist about the options available. Your GP can also refer you to see a specialist at a hospital or fertility clinic.
Finding a clinic offering pre-implantation genetic diagnosis
Not all fertility clinics have a licence to perform the procedure, so you will need to check with them. The Human Fertilisation and Embryology Authority also has a useful guide. Depending on where you live, you may have to travel some distance to visit a clinic that offers pre-implantation genetic diagnosis.
To be eligible for pre-implantation genetic diagnosis on the NHS a potential parent must have had a positive genetic test for a BRCA1, BRCA2 or TP53 fault. There are some other eligibility criteria too, such as the mother’s age, weight and whether or not you have children already. The technique is not recommended on frozen eggs.