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07.10.2016 | Original Research | Ausgabe 3/2017

Journal of Genetic Counseling 3/2017

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

Zeitschrift:
Journal of Genetic Counseling > Ausgabe 3/2017
Autoren:
Ramona Alfaro Arenas, Jordi Rosell Andreo, Damián Heine Suñer, Group for the study of FXS in the Balearic Islands
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10897-016-0005-3) contains supplementary material, which is available to authorized users.
Group for the study of FXS in the Balearic Islands: Sector Levante: María Pía, Consuelo Fernández Yagüe, Catalina Cerdà, Jerónima Amengual, Margalida Lladó, Elena Pascual de Juan, Teresa Mariscal, Pilar López Redondo, Olga Román. Hospital de Manacor: Andrés Calvo Pérez, Sabine Rehkugler, Francisco Javier Agüera. Sector Migjorn: Azucena Bande Seisdedos, Mª Jesús Fernández Castaño, Roser Gallardo Ferrer, Margalida Alomar Castell, Concha Manzanares Mir, Carmen 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, Hospital Son Llatzer: Miguel Juan Clar, Albert Tubau, Maria Antonia Ferragut. Sector Inca: Elena Portells Miralles, Carmen Ribera Gómez, Jessica Holster, Elena Montes de Oca, Dolores García, Carmen Vallejo Burgada. Hospital Inca: Agustín Hernández, Juan Trias Rojas; Ines Pomar, Joana Boyeras. Sector Poniente: Eva Navarro, Yolanda Vives Fuster, María Maimó Vaquer, Mariana Garces Más, Matteu Taylor, Silvia Miralles Corrales, Marian García Baratas, María A. Blanco García, Catalina Torrens Grau, Francisca Llinàs Alzina, Regina Sastre Arbós, Verónica Molina Gilfillan, Mª Paz Nadal Casasnovas. Sequencing service : Mª Carmen Vidal Llampurdanes, Carmen Santos Pons. Menorca/Hospital Mateu Orfila: Juan Carlos Hermoso García, Jorge Casal Moro, Miriam Ribes Redondo, Marcial Moreno Pons. Ibiza/Hospital Can Misses: Montserrat Pastor, Raquel Gastón, Rodolfo Moreno Mira, Marta Cortés.

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.

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Zusatzmaterial
High resolution image (TIF 407 kb)
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Table S1 (DOC 132 kb)
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ESM 1 (XLS 61 kb)
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Literatur
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