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


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.

SUBMITTER: Gonzalez-Gonzalez MC 

PROVIDER: S-EPMC2582097 | biostudies-other | 2008 Sep-Oct

REPOSITORIES: biostudies-other

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