Screening for fragile X syndrome

Murray J, Cuckle H, Taylor G, Hewison J
Record ID 31998008149
Authors' objectives:

Aims to provide the information needed to decide whether to use DNA testing to screen for the fragile X syndrome, a common cause of learning disability.

Authors' recommendations: Limited paediatric screening for fragile X syndrome and some cascade screening in affected families is currently being carried out at many UK centres. This is of clinical value and should continue. However, more research will be needed before any active screening programmes should be considered for implementation in the NHS. Studies should be carried out to assess the current practice of paediatric screening when there is developmental delay. There should be a national audit of the current practice of screening in affected families. Research should be commissioned into the psychosocial implications of being identified as having a PM. The feasibility of routine antenatal screening should be assessed. A central register for all diagnoses should be established, based mainly on reports from DNA laboratories.
Authors' methods: Review
Project Status: Completed
URL for project:
Year Published: 1997
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: England, United Kingdom
MeSH Terms
  • Fragile X Syndrome
Organisation Name: NIHR Health Technology Assessment programme
Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK
Contact Name:
Contact Email:
Copyright: 2009 Queen's Printer and Controller of HMSO
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.