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, María Pía, Consuelo Fernández Yagüe, Catalina Cerdà, Jerónima Amengual, Margalida Lladó, Elena Pascual de Juan, Teresa Mariscal, Pilar López Redondo, Olga Román, Andrés Calvo Pérez, Sabine Rehkugler, Francisco Javier Agüera, Azucena Bande Seisdedos, Mª Jesús Fernández Castaño, Roser Gallardo Ferrer, Margalida Alomar Castell, Concha Manzanares MirCarmen Carrascosa Martín, Mª Teresa Sánchez-Puga Crusat, Joana Crespí Rullan, Catalina Serra Calafat, Catalina Artigues Mascaró, Antonia Cladera Riera, Joana Guardiola Martínez, Margalida Pujol Ferragut, Rocío Aguilar González, Miguel Juan Clar, Albert Tubau, Maria Antonia Ferragut, Elena Portells Miralles, Carmen Ribera Gómez, Jessica Holster, Elena Montes de Oca, Dolores García, Carmen Vallejo Burgada, Agustín Hernández, Juan Trias Rojas, Ines Pomar, Joana Boyeras, Eva Navarro, Yolanda Vives Fuster, María Maimó Vaquer, Mariana Garces Más, Matteu Taylor, Silvia Miralles Corrales, Marian García Baratas, María A. Blanco García, Group for the study of FXS in the Balearic Islands

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)501-510
Number of pages10
JournalJournal of Genetic Counseling
Issue number3
StatePublished - Jun 1 2017


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

ASJC Scopus subject areas

  • Genetics(clinical)


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