Screening
Screening for the HEXA mutation that causes Tay-Sachs disease is recommended if you are planning to start a family and you are in a high-risk group for developing Tay-Sachs disease.
In England, two main groups of people are thought to have a high-risk of developing the condition:
- people of Ashkenazi Jewish descent – this applies to most people of Jewish descent in England
- people with a known history of Tay-Sachs disease in their family
Screening involves testing both yourself and your partner for the HEXA mutation. If you both test positive, you have a 25% chance of conceiving a baby who develops Tay-Sachs disease. This can be confirmed by testing the unborn foetus at an early stage of the pregnancy. If the diagnosis is confirmed, you have the option of terminating the pregnancy.
In-vitro fertilisation
Some people are unwilling to terminate a pregnancy because they have ethical or religious objections to the practice of abortion. In such circumstances, an alternative option to conceiving naturally would be to surgically remove a number of eggs from the woman's ovaries and fertilise them with the man’s sperm in a laboratory. This is known as in-vitro fertilisation (IVF).
The resulting embryos can be tested and only healthy embryos selected for implantation back in the womb. However, IVF is only available free of charge on the NHS for women with fertility problems, so you would need to pay for treatment if you chose this approach. A course of IVF carried out privately can cost up to £7,000, and there is no guarantee that it will be successful.
