The annual call for new topics in now open
We welcome you to propose a new health condition for a screening programme that is not already considered by the UK NSC.
Please download the form and read the guidance at the end of this link to make a proposal.
The deadline for submissions is 16th December 2018. For more information please see this blog.
 

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

 

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.

» Download the expert review for Fragile X (PDF document, 347KB)

The UK NSC welcomes comments and feedback on the expert review during the consultation period that lasts from 22/10/2018 until 17/01/2019. Please send comments to Screening Evidence by e-mail using this feedback form.

Please note that all consultation submissions will be published on this page when the review is complete. Full details can be found in the confidentiality and disclosure section at the bottom of this page.

Recommendation Systematic population screening programme not recommended
 

 

 

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
Faculty of Public Health
The Fragile X Society
Genetic Alliance UK
MENCAP
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)

Confidentiality and disclosure

Information provided in response to this consultation, including personal information, may be subject to publication or release to other parties or to disclosure in accordance with the access to information regimes (these are primarily the Freedom of Information Act 2000, the Data Protection Act 1998, and the Environmental Information Regulations 2004). If you want information, including personal data that you provide to be treated as confidential, please be aware that, under the FOIA, there is a statutory Code of Practice with which public authorities must comply and which deals, amongst other things, with obligations of confidence.

In view of this it would be helpful if you could explain to us why you regard the information you have provided as confidential. If we receive a request for disclosure of the information we will take full account of your explanation, but we cannot give an assurance that confidentiality can be maintained in all circumstances. An automatic confidentiality disclaimer generated by your IT system will not, of itself, be regarded as binding on the UK National Screening Committee.

Any request for information to be treated in confidence will be taken into consideration in the publication of responses to the consultation. The UK National Screening Committee intends to publish all responses following the closure of the consultation period, however we will not publish responses from respondents who request that any of the information in their response, including personal data, should be handled in confidence. The UK National Screening Committee reserves the right not to publish or take into account any representations which are openly offensive or defamatory.

More options

Go to top