Screening for Fragile X Syndrome (Murray et al.) - NIHR Journals ...

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Recommendations5. A central registry should be established forall diagnoses, based mainly on reports fromDNA laboratories. There are no officialstatistics for this country of the number ofindividuals born with fragile X syndrome.It is therefore not possible to monitor theeffect of screening or other interventionon the prevalence of this common seriousdisorder. The present voluntary system ofbirth defect notification to the Office ofNational Statistics is inadequate for thispurpose. One solution, as has happenedwith Down’s syndrome, would be to developa national register, starting with those casesascertained by DNA laboratories equippedto perform diagnostic testing.50
Health Technology Assessment 1997; Vol. 1: No. 4AcknowledgementsThe authors wish to thank Lyn Cookman forhelp with the manuscript and keeping track ofthe references, and Carol Wilson for organising theelectronic reference management system. We aregrateful to Professor Ted Brown, Professor MarcusPembrey, Professor Gillian Turner, Professor DavidBrock, Dr Wayne Miller and Dr Christine Spencefor providing us with unpublished information.Finally, we wish to thank Dr Jeremy Turk for hishelpful comments.51
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