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

Autor: González-González MC; Department of Genetics, Fundación Jiménez Díaz, Avda Reyes Católicos, 2, 28040 Madrid, Spain. cgonzalezg@megalab.es, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C
Jazyk: angličtina
Zdroj: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2008 Sep-Oct; Vol. 25 (9-10), pp. 477-81. Date of Electronic Publication: 2008 Oct 14.
DOI: 10.1007/s10815-008-9256-8
Abstrakt: 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.
Databáze: MEDLINE
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