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

Prenat Diagn. 2014 Sep;34(9):886-92. doi: 10.1002/pd.4388. Epub 2014 May 13.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amyloid Neuropathies, Familial / diagnosis*
  • Amyloid Neuropathies, Familial / genetics
  • Cross-Sectional Studies
  • Female
  • Genetic Testing / statistics & numerical data*
  • Health Knowledge, Attitudes, Practice*
  • Heterozygote*
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Motivation*
  • Multivariate Analysis
  • Odds Ratio
  • Patient Acceptance of Health Care / psychology
  • Patient Acceptance of Health Care / statistics & numerical data*
  • Portugal
  • Pregnancy
  • Preimplantation Diagnosis / psychology
  • Preimplantation Diagnosis / statistics & numerical data*
  • Socioeconomic Factors
  • Surveys and Questionnaires
  • Young Adult