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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

  • GENETICS
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Abstract

Purpose

We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease.

Methods

We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs.

Results

Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not co-segregate with the disease, thus the fetus was healthy.

Conclusions

This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders.

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Acknowledgements

F.I.S. supported this project (PI040218). We thank Foundation Conchita Rábago for their support to MC González-González and Ana Bustamante Aragonés. F.I.S. and Foundation Conchita Rábago approved and agreed to be named in the acknowledgments of this paper.

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Authors and Affiliations

  1. Department of Genetics, Fundación Jiménez Díaz, Avda Reyes Católicos, 2, 28040, Madrid, Spain

    M. Cristina González-González, Maria Garcia-Hoyos, M. Jose Trujillo-Tiebas, A. Bustamante Aragonés, M. Rodriguez de Alba, D. Diego Alvarez, Carmen Ayuso & Carmen Ramos

  2. Department of Gynecology and Obstetrics, Fundación Jiménez Díaz, Avda Reyes Católicos, 2, 28040, Madrid, Spain

    Joaquín Diaz-Recasens

Authors
  1. M. Cristina González-González
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  2. Maria Garcia-Hoyos
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  3. M. Jose Trujillo-Tiebas
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  4. A. Bustamante Aragonés
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  5. M. Rodriguez de Alba
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  6. D. Diego Alvarez
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  7. Joaquín Diaz-Recasens
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  8. Carmen Ayuso
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  9. Carmen Ramos
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Corresponding author

Correspondence to M. Cristina González-González.

Additional information

Capsule Prenatal diagnosis of single gene disorders such as Huntington disease are possible using maternal blood and different simple laboratory techniques.

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González-González, M.C., Garcia-Hoyos, M., Trujillo-Tiebas, M.J. et al. Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease. J Assist Reprod Genet 25, 477–481 (2008). https://doi.org/10.1007/s10815-008-9256-8

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  • DOI: https://doi.org/10.1007/s10815-008-9256-8

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