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Journal of Genetic Counseling

, Volume 26, Issue 3, pp 501–510 | Cite as

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors

  • Ramona Alfaro Arenas
  • Jordi Rosell Andreo
  • Damián Heine Suñer
  • Group for the study of FXS in the Balearic Islands
Original Research

Abstract

We report herein results of a study performed in the Balearic Islands which had the following goals: 1) Determine the proportion of pregnant or non-pregnant women planning pregnancy, who would choose to undergo a screening test for Fragile X Syndrome (FXS), if it is accompanied by the appropriate information; 2) Assess satisfaction and any increase in stress among women who participate in screening; 3) Collect epidemiological information about the incidence of the disease in our population; and 4) Collect demographic and health history data and assess participants’ awareness of the disease. Screening was performed on 3,731 pregnant and non-pregnant women of childbearing age and the results indicate: a very high voluntary rate of participation; a high level of self-reported satisfaction and low levels of stress because of the test; a very high incidence of premutation (1/106) in our population; and a low level of awareness about the existence of FXS (25 %). Additional findings indicate no significant correlation between self-reported health history and premutation detection, and the high premutation incidence does not seem to be specific to the indigenous Balearic population. Based on these results, we discuss the pros and cons of an implementation of preconception and pregnant women screening for FXS within a public health screening program.

Keywords

Fragile X syndrome Intellectual disability Neurogenetic disorder Screening Reproductive genetics Stress Satisfaction Awareness 

Notes

Acknowledgments

We thank participants and professionals who contributed to this study. We also thank Natalia Marlowe, John Norton, Birgit Reinhardt, Koldo Aurrekoetxea and Judy H Yu from Abbott Molecular for their help.

Compliance with Ethical Standards

Conflict of Interest

Authors Ramona Alfaro Arenas, Jordi Rosell Andreo and Damián Heine Suñer have been funded by an Abbott Laboratories Inc. grant.

Human Studies and Informed Consent

‘All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.’

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Ramona Alfaro Arenas
    • 1
    • 2
  • Jordi Rosell Andreo
    • 1
    • 3
    • 4
  • Damián Heine Suñer
    • 1
    • 2
    • 3
    • 4
  • Group for the study of FXS in the Balearic Islands
  1. 1.Sección Genética Hospital Universitario Son EspasesPalma de MallorcaSpain
  2. 2.Institut d’Investigacions Sanitaries de Palma (Idispa)Palma de MallorcaSpain
  3. 3.Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Palma de MallorcaSpain
  4. 4.Department of GeneticsHospital Universitario Son EspasesMallorcaSpain

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