antenatal screening programme

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.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in April 2019.

Screening is not currently recommended for this condition.

Screening during pregnancy for fragile X syndrome is not recommended. This is because:

  • the test is not accurate- some babies with a positive result will never have symptoms
  • some mothers may have to make difficult decisions on their pregnancy without knowing if their baby will develop symptoms
  • the test is labour intensive and not suitable for use in a screening programme
  • there is a lack of evidence that screening would improve outcomes in children compared to usual health care

Supporting documents from the 2019 review

Evidence map Fragile X (2019)
This document investigates whether a more detailed review can be conducted based on the available evidence.

UK NSC coversheet & consultation responses Fragile X (2019)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2019

Next review estimated to be completed: 2022 to 2023.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Fragile X

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us. More information for organisation can be found in appendix C of the UK NSC evidence review process.