Current UK NSC recommendations > Familial dysautonomia

The UK NSC recommendation on Familial dysautonomia 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This recommendation is no longer active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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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 Familial dysautonomia

Familial Dysautonomia (FD) is one example of a group of disorders known as hereditary sensory and autonomic neuropathies (HSAN). The various HSAN disorders are believed to be genetically distinct from each other. Unlike other HSAN, Familial Dysautonomia has been only noted in individuals of Ashkenazi Jewish extraction causing dysfunction of the autonomic and sensory nervous systems. Dysfunction is a result of an incomplete development of the neurons (nerve fibres) of these systems.

» Read more about familial dysautonomia on Contact a Family

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