The UK NSC recommendation on Fragile X syndrome screening in pregnancy (currently under review)


This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.

The review process began in Apr 2018 and is estimated to be completed by Apr 2019.

Recommendation Systematic population screening programme not recommended
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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


• British Institute of Learning Disabilities
The British Society for Human Genetics
Faculty of Public Health
The Fragile X Society
Genetic Alliance UK
Royal College of General Practitioners
Royal College of Obstetricians and Gynaecologists
Royal College of Physicians
Royal College of Physicians and Surgeons of Glasgow
Royal College of Physicians of Edinburgh
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.

Related documents

icon Fragile X Syndrome (PDF document, 902KB, 29/07/15)
icon Fragile X Syndrome Recommendation (PDF document, 70KB, 29/07/15)
icon Fragile X Syndrome summary and consultation responses redacted (PDF document, 364KB, 29/07/15)

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