Fragile X
The UK NSC policy on Fragile X syndrome screening in pregnancy
More Information
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
Policy Position
Screening for fragile X syndrome in pregnancy is not recommended.
The current available test is labour intensive and unsuitable for high throughput screening purposes. The test would identify carriers of premutations and full mutations. In addition to identifying carriers of a full mutation, the phenotype of which in females is highly variable, the test would also identify premutation carriers for whom the epidemiology, natural history and clinical course is currently inadequately understood in both males and females.
This policy was reviewed in Dec 2011 but no significant changes were made. It is due to be considered again in 2014/15, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
See expert review.
Stakeholders
The Fragile X Society
Royal College of Obstetricians and Gynaecologists
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
