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 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
- British Institute of Learning Disabilities
- Faculty of Public Health
- 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
- The British Society for Human Genetics
- The Fragile X Society
- UK Genetic Testing Network
If you think your organisation should be added, please contact us.