dc.creator | Fernández, Raquel María | es |
dc.creator | Peciña, Ana | es |
dc.creator | Lozano Arana, María Dolores | es |
dc.creator | Sánchez, Beatriz | es |
dc.creator | García-Lozano, Juan Carlos | es |
dc.creator | Borrego, Salud | es |
dc.creator | Antiñolo Gil, Guillermo | es |
dc.date.accessioned | 2021-06-21T16:38:03Z | |
dc.date.available | 2021-06-21T16:38:03Z | |
dc.date.issued | 2015-11-18 | |
dc.identifier.citation | Fernández, R.M., Peciña, A., Lozano Arana, M.D., Sánchez, B., García-Lozano, J.C., Borrego, S. y Antiñolo Gil, G. (2015). Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain. Biomed Research International, 2015, art.n.965839. | |
dc.identifier.issn | 2314-6141 (electrónico) | es |
dc.identifier.uri | https://hdl.handle.net/11441/114706 | |
dc.description.abstract | Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most common
monogenic cause of mental impairment. Reproductive options for the FXS carriers include preimplantation genetic diagnosis
(PGD). However, this strategy is considered by some centers as wasteful owing to the high prevalence of premature ovarian failure
in FXS carriers and the difficulties in genetic diagnosis of the embryos. Here we present the results of our PGD Program applied
to FXS, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Roc´ıo in Seville. A
total of 11 couples have participated in our PGD Program for FXS since 2010. Overall, 15 cycles were performed, providing a total
of 43 embryos. The overall percentage of transfers per cycle was 46.67% and the live birth rate per cycle was 13.33%. As expected,
these percentages are considerably lower than the ones obtained in PGD for other pathologies. Our program resulted in the birth of
3 unaffected babies of FXS for 2 of the 11 couples (18.2%) supporting that, despite the important drawbacks of PGD for FXS, efforts
should be devoted in offering this reproductive option to the affected families. | es |
dc.description.sponsorship | Fundación Pública Andaluza Progreso y Salud (Consejería de Salud) Junta de Andalucía (PI-0105-2011) | es |
dc.format | application/pdf | es |
dc.format.extent | 7 p. | es |
dc.language.iso | eng | es |
dc.publisher | Hindawi | es |
dc.relation.ispartof | Biomed Research International, 2015, art.n.965839. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Fragile X syndrome | es |
dc.subject | FXS | es |
dc.subject | PGD Program | es |
dc.title | Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/acceptedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.projectID | PI-0105-2011 | es |
dc.relation.publisherversion | https://www.hindawi.com/journals/bmri/2015/965839/ | es |
dc.identifier.doi | 10.1155/2015/965839 | es |
dc.journaltitle | Biomed Research International | es |
dc.publication.volumen | 2015 | es |
dc.publication.initialPage | art.n.965839 | es |