Current UK NSC recommendations > Tay Sachs disease

The UK NSC recommendation on Tay Sachs disease screening in pregnancy (archived)

This recommendation is no longer active

Date of deactivation 14 January 2014
Reason for deactivation The policy was deactivated from the policy review cycle following the review conclusions and agreement from stakeholders that testing target populations would be more appropriate than universal screening.
Recommendation Systematic population screening programme not recommended
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Universal screening is not recommended. Testing should be available to individuals who meet the relevant clinical criteria.


Why is screening not recommended by UK NSC?

A whole population, carrier screening programme for Tay Sachs Disease, Canavan Disease and Familial Dysautonomia is not recommended.

While these conditions represent serious inherited health problems, they are very rare and the risk of inheritance is concentrated in the UK's Jewish population. As such, test coverage in this small, high risk population is not within the remit of the UK NSC.

There is evidence that carrier information is valued by stakeholders and that carrier testing has been successful in preventing the birth of affected babies when targeted within this population.

The UK NSC is supportive of work to ensure that an NHS testing service is available to those wishing to access it.

More about Tay Sachs disease

Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease. Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. In this case the enzyme concerned is hexosaminidase A (hex-A). In its absence a lipid GM(2) ganglioside builds up abnormally in the body. The nerve cells in the brain are particularly affected.

» Read more about Tay Sachs on the Contact a Family website

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