Pregnancy & The Tay Sachs Test

Many genetic diseases can now be tested for, either privately or through the NHS, prior to conception. These tests are very beneficial for couples with a family history of genetic disease who are looking to conceive for the first time.

What is Tay-Sachs disease?

Tay-Sachs disease goes by a number of other names, and is a familial disease that is passed down parent to child by means of an aberrant gene. It is also referred to as hexosaminidase A deficiency or GM2 gangliosidosis. Tay-Sachs causes a gradual loss of mental ability and physical function that starts off at about 6 months of age and gradually worsens, eventually resulting in death by around the age of 4.

Tay-Sachs disease is an aggressive and debilitating genetic disorder, and is caused by an abnormal accumulation of parts of cells called gangliosides within cells of the brain. The first symptom of the illness is a characteristic red spot on the back of the eye (a part of the eye called the retina). The disease is one of those that is particularly common amongst the Ashkenazi Jewish population, and is one that is regularly tested for in genetic screens.

Testing for Tay-Sachs disease

Tay-Sachs can be tested for prior to conception. A child can only develop the disorder if he or she has two parents with the diseased gene. The parents themselves don’t need to suffer from the disease if they only carry one copy of the Tay-Sachs gene (everyone has two copies of each gene, and two copies of the faulty Tay-Sachs gene are needed to develop the illness), which is why both parents need to be tested during the screen.

The only thing needed for the Tay-Sachs test is a blood sample. You can receive tests from a number of private firms who specialise in genetic testing, or through the NHS regional genetics services.

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