TY - JOUR
T1 - A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy
T2 - Implementation, Acceptance, Awareness, and Geographic Factors
AU - Alfaro Arenas, Ramona
AU - Rosell Andreo, Jordi
AU - Heine Suñer, Damián
AU - Pía, María
AU - Fernández Yagüe, Consuelo
AU - Cerdà, Catalina
AU - Amengual, Jerónima
AU - Lladó, Margalida
AU - Pascual de Juan, Elena
AU - Mariscal, Teresa
AU - López Redondo, Pilar
AU - Román, Olga
AU - Calvo Pérez, Andrés
AU - Rehkugler, Sabine
AU - Agüera, Francisco Javier
AU - Bande Seisdedos, Azucena
AU - Fernández Castaño, Mª Jesús
AU - Gallardo Ferrer, Roser
AU - Alomar Castell, Margalida
AU - Manzanares Mir, Concha
AU - Carrascosa Martín, Carmen
AU - Sánchez-Puga Crusat, Mª Teresa
AU - Crespí Rullan, Joana
AU - Serra Calafat, Catalina
AU - Artigues Mascaró, Catalina
AU - Cladera Riera, Antonia
AU - Guardiola Martínez, Joana
AU - Pujol Ferragut, Margalida
AU - Aguilar González, Rocío
AU - Juan Clar, Miguel
AU - Tubau, Albert
AU - Ferragut, Maria Antonia
AU - Portells Miralles, Elena
AU - Ribera Gómez, Carmen
AU - Holster, Jessica
AU - Montes de Oca, Elena
AU - García, Dolores
AU - Vallejo Burgada, Carmen
AU - Hernández, Agustín
AU - Trias Rojas, Juan
AU - Pomar, Ines
AU - Boyeras, Joana
AU - Navarro, Eva
AU - Vives Fuster, Yolanda
AU - Maimó Vaquer, María
AU - Garces Más, Mariana
AU - Taylor, Matteu
AU - Miralles Corrales, Silvia
AU - García Baratas, Marian
AU - Blanco García, María A.
AU - Group for the study of FXS in the Balearic Islands
N1 - Publisher Copyright:
© 2016, National Society of Genetic Counselors, Inc.
PY - 2017/6/1
Y1 - 2017/6/1
N2 - 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.
AB - 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.
KW - Awareness
KW - Fragile X syndrome
KW - Intellectual disability
KW - Neurogenetic disorder
KW - Reproductive genetics
KW - Satisfaction
KW - Screening
KW - Stress
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UR - http://www.scopus.com/inward/citedby.url?scp=84990838713&partnerID=8YFLogxK
U2 - 10.1007/s10897-016-0005-3
DO - 10.1007/s10897-016-0005-3
M3 - Article
C2 - 27714485
AN - SCOPUS:84990838713
SN - 1059-7700
VL - 26
SP - 501
EP - 510
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
IS - 3
ER -