The UK National Screening Committee (UK NSC) has opened a consultation on evidence relating to antenatal and newborn screening for fragile X syndrome (FXS).
FXS is one of the health conditions the committee reviews regularly for evidence relating to antenatal screening.
Evidence maps are typically the first step in the UK NSC process of reviewing evidence and we are asking individuals and organisations to provide feedback on the findings and conclusions of a 2025 evidence map on screening for FXS.
This evidence map was commissioned to review literature on the topic published since a 2019 evidence review.
The 2025 evidence map reaffirms the conclusions of the 2019 review. It therefore concluded that:
- there was not enough evidence in relation to newborn screening for FXS to commission further synthesis work on this topic
- UK NSC should not review the topic again until new evidence becomes available that is likely to have a significant effect on the recommendation
- any future requests to review the evidence for newborn screening for FXS should be submitted through the UK NSC’s open call for topics
To take part in the consultation, download the consultation documents by clicking on the grey ‘View documents’ button on the UK NSC’s fragile X recommendation page. Then submit your response by clicking on the green ‘Submit comments’ button.
The deadline for responses is 11.59pm GMT on Monday 16 February 2026.
About FXS
FXS is the most common inherited cause of intellectual disability and a leading cause of autism spectrum disorder. It results from a genetic mutation that affects brain development and function. Individuals with FXS can have a range of developmental, behavioural, and physical features, including attention and learning problems, anxiety, seizures, and gastrointestinal problems.
The latest evidence
The 2025 evidence map identified a low volume of evidence published since the 2019 review. It found:
- 5 guidelines or recommendations related to antenatal or newborn screening for FXS, with limited support for either
- no studies reporting on the accuracy of available screening tests to detect FXS in pregnant women
- one study reporting on the technical feasibility of newborn screening for FXS
- no studies reporting on the benefits and harms of early screening interventions in infants and children identified with FXS through screening
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