carter-offeringfragile-2013.pdf (1.44 MB)
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
journal contribution
posted on 2013-01-01, 00:00 authored by M Martyn, V Anderson, A Archibald, Rob CarterRob Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, Sandra YounieSandra Younie, S MetcalfeArticle focus
▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population. We are undertaking a programme evaluation approach using mixed methods to collect data about informed decisionmaking and predictors of test uptake, with a focus on psychosocial measures. We are also undertaking an economic appraisal.
Key messages
▪ Carrier screening for fragile X syndrome is the subject of debate because of concerns around education and counselling for this complex condition
and the potential for psychosocial harms.
▪ This study will inform policy and practice in the area of population carrier screening by examining psychosocial aspects of screening, including informed decision-making; models of screening, through antenatal care or other access points and health economics of carrier screening for fragile X syndrome.
Strengths and limitations of this study
▪ This study seeks to recruit 1000 women in total. This large sample size will give us sufficient power to address the aims of the study.
▪ Collecting quantitative and qualitative data will provide a more in-depth picture of screening for fragile X syndrome.
▪ A limitation of the study is that the data on models of screening may not be applicable to other countries that have different healthcare systems.
▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population. We are undertaking a programme evaluation approach using mixed methods to collect data about informed decisionmaking and predictors of test uptake, with a focus on psychosocial measures. We are also undertaking an economic appraisal.
Key messages
▪ Carrier screening for fragile X syndrome is the subject of debate because of concerns around education and counselling for this complex condition
and the potential for psychosocial harms.
▪ This study will inform policy and practice in the area of population carrier screening by examining psychosocial aspects of screening, including informed decision-making; models of screening, through antenatal care or other access points and health economics of carrier screening for fragile X syndrome.
Strengths and limitations of this study
▪ This study seeks to recruit 1000 women in total. This large sample size will give us sufficient power to address the aims of the study.
▪ Collecting quantitative and qualitative data will provide a more in-depth picture of screening for fragile X syndrome.
▪ A limitation of the study is that the data on models of screening may not be applicable to other countries that have different healthcare systems.
History
Journal
BMJ openVolume
3Issue
9Publisher
B M J GroupLocation
London, EnglandISSN
2044-6055Language
engPublication classification
C1 Refereed article in a scholarly journalCopyright notice
2013, B M J GroupUsage metrics
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No categories selectedKeywords
fragile X syndromeintellectual and developmental disabilitypsychosocial aspectspregnant womennon-pregnant womeninformed decision-makingpopulation carrier screeningScience & TechnologyLife Sciences & BiomedicineMedicine, General & InternalGeneral & Internal MedicineFMR1 GENEEXPANDED ALLELESCGG REPEATNEWBORNPREMUTATIONIDENTIFICATIONRISKINSTABILITYPREVALENCEEXPRESSIONGeneticsPublic Health
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