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The UK NSC recommendation on Fragile X syndrome screening in pregnancy

 
Recommendation Systematic population screening programme not recommended
Last review completed July 2015
Next review due in 2018/19
 
Key downloads
 

 

 

Find general information about population health screening.

Why is screening not recommended by UK NSC?

Systematic population screening is not recommended because: -

• Problems with the accuracy of the pre-natal genetic test, which would not give enough information about whether the baby would go on to develop Fragile X symptoms or not.

 

• The test is labour intensive and therefore unsuitable for a screening programme. There are alternatives, including specially designed kits, but the evidence for these is very limited.

 

• There is no good evidence that screening during pregnancy would mean that treating or managing the condition in the infant would improve compared to a diagnosis in childhood.

 

• There are no curative or preventative treatments that could be offered to those identified through screening.

More about Fragile X

Fragile X is one of the most common identifiable forms of inherited intellectual disability. It has a prevalence of about 1 in 4,000 males and 1 in 8,000 females. 

» Read more about fragile X on the Contact a Family website

Stakeholders

• British Institute of Learning Disabilities
The British Society for Human Genetics
The Fragile X Society
Genetic Alliance UK
MENCAP
Royal College of Obstetricians and Gynaecologists
UK Genetic Testing Network

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

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