Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population

INTRODUCTION: Fragile X syndrome (FXS) is the leading cause of inherited intellectual and developmental disability. Policy development relating to carrier screening programmes for FXS requires input from large studies examining not only test uptake but also psychosocial aspects. This study will comp...

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Autori principali: Martyn, M, Anderson, V, Archibald, A, Carter, R, Cohen, J, Delatycki, M, Donath, S, Emery, J, Halliday, J, Hill, M, Sheffield, L, Slater, H, Tassone, F, Younie, S, Metcalfe, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2013
Soggetti:
Genetics and Genomics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3773647/
https://ncbi.nlm.nih.gov/pubmed/24022395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2013-003660
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