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Erschienen in: Journal of Genetic Counseling 3/2017

07.10.2016 | Original Research

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

verfasst von: Ramona Alfaro Arenas, Jordi Rosell Andreo, Damián Heine Suñer, Group for the study of FXS in the Balearic Islands

Erschienen in: Journal of Genetic Counseling | Ausgabe 3/2017

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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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Metadaten
Titel
A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors
verfasst von
Ramona Alfaro Arenas
Jordi Rosell Andreo
Damián Heine Suñer
Group for the study of FXS in the Balearic Islands
Publikationsdatum
07.10.2016
Verlag
Springer US
Erschienen in
Journal of Genetic Counseling / Ausgabe 3/2017
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-016-0005-3

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