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Kátia Valdrez, Susana Silva, Teresa Coelho and Elisabete Alves Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers Prenatal Diagnosis 34

Version of Record online: 13 MAY 2014 | DOI: 10.1002/pd.4388

What's already known about this topic?

  • Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, hereditary autosomal dominant disease.
  • An option for medical-assisted reproduction, preimplantation genetic diagnosis (PGD), became available to Portuguese-type FAP (type I) mutation carriers in 2001.
  • It is important to take into account different cultural, economic, and political contexts that influence access and quality of care in reproductive medicine and, in particular, real-world decisions on PGD use.

What does this study add?

  • This study indicates gaps in awareness of PGD among Portuguese FAP mutation carriers and shows the importance of cognitive dimensions, particularly financial costs, technical distrust, and time to get pregnant.
  • Awareness and motives for use and non-use of PGD reveal socioeconomic inequalities, with younger, richer, and childless participants being more likely to report being aware of PGD.
  • It is important to provide accurate information and improve accessibility.

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