title: Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.
abstract: Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic counseling, presymptomatic testing, and prenatal diagnosis of hereditary ataxias has been under development since 2001. Considering that the revision of the experience with prenatal diagnosis for SCA2 in Cuba would enable comparison of ours with international findings, we designed a descriptive study, based on the retrospective revision of the medical records belonging to the 58 couples that requested their inclusion in the program, during an 11-year period (2001-2011). Most of the participants in the prenatal diagnosis program were known presymptomatic carriers, diagnosed through the presymptomatic testing in the same period of study, for an uptake among them of 22.87 % (51 out of 223). In 28 cases, the fetuses were carriers, 20 of these couples (71.43 %) decided to terminate the pregnancy; the rest continued the pregnancy to term, this resulting in a predictive test for their unborn children. A predominance of females as the at-risk progenitor was observed. Except for a slightly lower average age, the results attained in the Cuban SCA2 prenatal diagnosis program resulted similar to the ones reported for Huntington disease in other countries. It is necessary to have easy access to the Cuban program through its expansion to other genetic centers along the island. Future research is needed to evaluate the long-term impact of both the predictive testing in unborn children and the selection of other reproductive options by the at-risk couples.
authors.affiliation: Center for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba, taniacruz@hotmail.ca.
authors.forename: Tania
authors.initials: T
authors.lastname: Cruz-Mariño
authors.forename: Luis
authors.initials: L
authors.lastname: Velázquez-Pérez
authors.forename: Yanetza
authors.initials: Y
authors.lastname: González-Zaldivar
authors.forename: Raúl
authors.initials: R
authors.lastname: Aguilera-Rodríguez
authors.forename: Miguel
authors.initials: M
authors.lastname: Velázquez-Santos
authors.forename: Yaimé
authors.initials: Y
authors.lastname: Vázquez-Mojena
authors.forename: Annelié
authors.initials: A
authors.lastname: Estupiñán-Rodríguez
authors.forename: Rubén
authors.initials: R
authors.lastname: Reynaldo-Armiñán
authors.forename: Luis Enrique
authors.initials: LE
authors.lastname: Almaguer-Mederos
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Laffita-Mesa
authors.forename: Victor
authors.initials: V
authors.lastname: Tamayo-Chiang
authors.forename: Milena
authors.initials: M
authors.lastname: Paneque