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Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience

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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.

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Acknowledgments

The authors are deeply indebted to the SCA2 Cuban families that participated in the prenatal diagnosis program and to the Cuban Ministry of Health. We would like to praise the work of BsC Nieves Santos Falcón, MD Karell Escalona Batallán, MD Humberto Jorge Cedeño, MD Mercedes Velázquez, BsC Nalia Canales Ochoa, BsC Arnoy Peña Acosta, BsC Roberto Rodríguez Labrada, and BsC Rafael Bestard. We are thankful to José Luis Guisao Martínez for the language corrections.

Compliance with ethical guidelines

The prenatal diagnosis procedures are in compliance with the laws existing in Cuba.

Conflict of interest statement

Authors declare no conflicts of interest.

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Authors and Affiliations

  1. Center for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba

    Tania Cruz-Mariño, Luis Velázquez-Pérez, Yanetza González-Zaldivar, Raúl Aguilera-Rodríguez, Miguel Velázquez-Santos, Yaimé Vázquez-Mojena, Annelié Estupiñán-Rodríguez, Luis Enrique Almaguer-Mederos & José Miguel Laffita-Mesa

  2. Medical University of Holguín, Holguín, Cuba

    Rubén Reynaldo-Armiñán

  3. Provincial Center of Medical Genetics, Holguín, Cuba

    Victor Tamayo-Chiang

  4. Center for Predictive and Preventive Genetics IBMC, Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal

    Milena Paneque

  5. Calle 4 de Abril #6, Entre Final y Carretera de Gibara, Reparto Luz, Holguín, 80100, Cuba

    Tania Cruz-Mariño

  6. Carretera Vía Habana. Reparto Edecio Pérez,, Holguín, 80100, Cuba

    Luis Velázquez-Pérez

Authors
  1. Tania Cruz-Mariño
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  2. Luis Velázquez-Pérez
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  3. Yanetza González-Zaldivar
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  4. Raúl Aguilera-Rodríguez
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  5. Miguel Velázquez-Santos
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  6. Yaimé Vázquez-Mojena
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  7. Annelié Estupiñán-Rodríguez
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  8. Rubén Reynaldo-Armiñán
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  9. Luis Enrique Almaguer-Mederos
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  10. José Miguel Laffita-Mesa
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  11. Victor Tamayo-Chiang
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  12. Milena Paneque
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Corresponding authors

Correspondence to Tania Cruz-Mariño or Luis Velázquez-Pérez.

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Cruz-Mariño, T., Velázquez-Pérez, L., González-Zaldivar, Y. et al. Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience. J Community Genet 4, 451–460 (2013). https://doi.org/10.1007/s12687-013-0147-z

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