학술논문
A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors
Document Type
Original Paper
Author
Alfaro Arenas, Ramona; Rosell Andreo, Jordi; Heine Suñer, Damián; Pía, María; Fernández Yagüe, Consuelo; Cerdà, Catalina; Amengual, Jerónima; Lladó, Margalida; Pascual de Juan, Elena; Mariscal, Teresa; López Redondo, Pilar; Román, Olga; Calvo Pérez, Andrés; Rehkugler, Sabine; Agüera, Francisco Javier; Bande Seisdedos, Azucena; Fernández Castaño, Mª Jesús; Gallardo Ferrer, Roser; Alomar Castell, Margalida; Manzanares Mir, Concha; Carrascosa Martín, Carmen; Sánchez-Puga Crusat, Mª Teresa; Crespí Rullan, Joana; Serra Calafat, Catalina; Artigues Mascaró, Catalina; Cladera Riera, Antonia; Guardiola Martínez, Joana; Pujol Ferragut, Margalida; Aguilar González, Rocío; Juan Clar, Miguel; Tubau, Albert; Ferragut, Maria Antonia; Portells Miralles, Elena; Ribera Gómez, Carmen; Holster, Jessica; Montes de Oca, Elena; García, Dolores; Vallejo Burgada, Carmen; Hernández, Agustín; Trias Rojas, Juan; Pomar, Ines; Boyeras, Joana; Navarro, Eva; Vives Fuster, Yolanda; Maimó Vaquer, María; Garces Más, Mariana; Taylor, Matteu; Miralles Corrales, Silvia; García Baratas, Marian; Blanco García, María A.; Torrens Grau, Catalina; Llinàs Alzina, Francisca; Arbós, Regina Sastre; Molina Gilfillan, Verónica; Nadal Casasnovas, Mª Paz; Vidal Llampurdanes, Mª Carmen; Santos Pons, Carmen; Hermoso García, Juan Carlos; Casal Moro, Jorge; Ribes Redondo, Miriam; Moreno Pons, Marcial; Pastor, Montserrat; Gastón, Raquel; Moreno Mira, Rodolfo; Cortés, Marta; Group for the study of FXS in the Balearic Islands
Source
Journal of Genetic Counseling. June 2017 26(3):501-510
Subject
Language
English
ISSN
1059-7700
1573-3599
1573-3599
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.