These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
    Author: González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C.
    Journal: J Assist Reprod Genet; 2008; 25(9-10):477-81. PubMed ID: 18853247.
    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.
    [Abstract] [Full Text] [Related] [New Search]