Screening for Fragile X Syndrome (Murray et al.) - NIHR Journals ...
Screening for Fragile X Syndrome (Murray et al.) - NIHR Journals ...
Screening for Fragile X Syndrome (Murray et al.) - NIHR Journals ...
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Recommendations5. A centr<strong>al</strong> registry should be established <strong>for</strong><strong>al</strong>l diagnoses, based mainly on reports fromDNA laboratories. There are no offici<strong>al</strong>statistics <strong>for</strong> this country of the number ofindividu<strong>al</strong>s born with fragile X syndrome.It is there<strong>for</strong>e not possible to monitor theeffect of screening or other interventionon the prev<strong>al</strong>ence of this common seriousdisorder. The present voluntary system ofbirth defect notification to the Office ofNation<strong>al</strong> Statistics is inadequate <strong>for</strong> thispurpose. One solution, as has happenedwith Down’s syndrome, would be to developa nation<strong>al</strong> register, starting with those casesascertained by DNA laboratories equippedto per<strong>for</strong>m diagnostic testing.50