Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers

Authors

  • Kátia Valdrez,

    1. Department of Clinical Epidemiology, Predictive Medicine and Public Health, University of Porto Medical School, Porto, Portugal
    2. Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, Porto, Portugal
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  • Susana Silva,

    1. Department of Clinical Epidemiology, Predictive Medicine and Public Health, University of Porto Medical School, Porto, Portugal
    2. Institute of Public Health, University of Porto (ISPUP), Porto, Portugal
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  • Teresa Coelho,

    1. Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, Porto, Portugal
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  • Elisabete Alves

    Corresponding author
    1. Department of Clinical Epidemiology, Predictive Medicine and Public Health, University of Porto Medical School, Porto, Portugal
    2. Institute of Public Health, University of Porto (ISPUP), Porto, Portugal
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  • Funding sources: This study was partly supported by FEDER funding from the Operational Programme Factors of Competitiveness – COMPETE and by national funding from the FCT – Foundation for Science and Technology (Portuguese Ministry of Education and Science) within the project ‘Health, governance and accountability in embryo research: couples' decisions about the fates of embryos’ (FCOMP-01-0124-FEDER-014453).

  • Conflicts of interest: None declared

ABSTRACT

Objective

To assess awareness of preimplantation genetic diagnosis (PGD) and to identify the reasons surrounding its use and non-use by familial amyloidotic polyneuropathy (FAP) carriers.

Method

Between January and May 2013, a self-administered questionnaire was applied to a representative sample of Portuguese FAP carriers, aged between 18 and 55 years and followed at the Northern surveillance unit. Odds ratios (OR) and respective 95% confidence intervals (95% CI) were estimated using multivariate logistic regression.

Results

Those who reported being aware of PGD (75.4%) were younger (age ≥ 35 years: OR = 0.51; 95% CI 0.26–1.01), had higher household income (>€1000/month: OR = 2.18; 95% CI 1.14–4.14), and were less likely to have children (OR = 0.35; 95% CI 0.16–0.76) and to have an individual diagnosis after 2001 (OR = 0.40; 95% CI 0.20–0.80). The main reasons for use of PGD were to avoid offspring suffering (48.9%), more frequently reported by men, more educated and wealthier, and the ability to raise a healthy child (39.4%). The main reasons for non-use of PGD were financial costs (29.6%), technical distrust (29.1%), and the time to get pregnant (17.3%).

Conclusion

The results reveal the importance of cognitive dimensions and mutation carriers' socioeconomic position in the assessment of PGD, highlighting the need to disseminate accurate information and improve accessibility to this technique. © 2014 John Wiley & Sons, Ltd.

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