Journal of assisted reproduction and genetics · 2008
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
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González-González M Cristina, Garcia-Hoyos Maria, Trujillo-Tiebas M Jose, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens Joaquín, Ayuso Carmen, Ramos Carmen
Аннотация
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.
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.