title: A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
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.
authors.affiliation: Sección Genética Hospital Universitario Son Espases, Palma de Mallorca, Balearic Islands, Spain.|Institut d'Investigacions Sanitaries de Palma (Idispa), Palma de Mallorca, Balearic Islands, Spain.
authors.forename: Ramona
authors.initials: R
authors.lastname: Alfaro Arenas
authors.affiliation: Sección Genética Hospital Universitario Son Espases, Palma de Mallorca, Balearic Islands, Spain. Jordi.rosell@ssib.es.|Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Palma de Mallorca, Spain. Jordi.rosell@ssib.es.|Department of Genetics, Hospital Universitario Son Espases, Ctra. de Valldemossa, 79, PC 07012, Mallorca, Balearic Islands, Spain. Jordi.rosell@ssib.es.
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell Andreo
authors.affiliation: Sección Genética Hospital Universitario Son Espases, Palma de Mallorca, Balearic Islands, Spain. damian.heine@ssib.es.|Institut d'Investigacions Sanitaries de Palma (Idispa), Palma de Mallorca, Balearic Islands, Spain. damian.heine@ssib.es.|Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Palma de Mallorca, Spain. damian.heine@ssib.es.|Department of Genetics, Hospital Universitario Son Espases, Ctra. de Valldemossa, 79, PC 07012, Mallorca, Balearic Islands, Spain. damian.heine@ssib.es.
authors.forename: Damián
authors.initials: D
authors.lastname: Heine Suñer
mesh_terms: D000328:Adult; D005193:Family Planning Services; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D005843:Geography; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D010342:Patient Acceptance of Health Care; D010865:Pilot Projects; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013030:Spain
keywords: Awareness; Fragile X syndrome; Intellectual disability; Neurogenetic disorder; Reproductive genetics; Satisfaction; Screening; Stress