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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
by
Garcia-Hoyos, Maria
, Ramos, Carmen
, González-González, M. Cristina
, Diaz-Recasens, Joaquín
, Rodriguez de Alba, M.
, Trujillo-Tiebas, M. Jose
, Ayuso, Carmen
, Bustamante Aragonés, A.
, Alvarez, D. Diego
in
DNA - blood
/ DNA - genetics
/ Female
/ Fetuses
/ Genetics
/ Gynecology
/ Human Genetics
/ Humans
/ Huntington Disease - diagnosis
/ Huntington Disease - genetics
/ Male
/ Medicine
/ Medicine & Public Health
/ Microsatellite Repeats
/ Mutation
/ Plasma
/ Pregnancy
/ Prenatal Diagnosis
/ Reproductive Medicine
2008
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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
by
Garcia-Hoyos, Maria
, Ramos, Carmen
, González-González, M. Cristina
, Diaz-Recasens, Joaquín
, Rodriguez de Alba, M.
, Trujillo-Tiebas, M. Jose
, Ayuso, Carmen
, Bustamante Aragonés, A.
, Alvarez, D. Diego
in
DNA - blood
/ DNA - genetics
/ Female
/ Fetuses
/ Genetics
/ Gynecology
/ Human Genetics
/ Humans
/ Huntington Disease - diagnosis
/ Huntington Disease - genetics
/ Male
/ Medicine
/ Medicine & Public Health
/ Microsatellite Repeats
/ Mutation
/ Plasma
/ Pregnancy
/ Prenatal Diagnosis
/ Reproductive Medicine
2008
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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
by
Garcia-Hoyos, Maria
, Ramos, Carmen
, González-González, M. Cristina
, Diaz-Recasens, Joaquín
, Rodriguez de Alba, M.
, Trujillo-Tiebas, M. Jose
, Ayuso, Carmen
, Bustamante Aragonés, A.
, Alvarez, D. Diego
in
DNA - blood
/ DNA - genetics
/ Female
/ Fetuses
/ Genetics
/ Gynecology
/ Human Genetics
/ Humans
/ Huntington Disease - diagnosis
/ Huntington Disease - genetics
/ Male
/ Medicine
/ Medicine & Public Health
/ Microsatellite Repeats
/ Mutation
/ Plasma
/ Pregnancy
/ Prenatal Diagnosis
/ Reproductive Medicine
2008
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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
Journal Article
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
2008
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Overview
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.
Publisher
Springer US,Springer Nature B.V
Subject
/ Female
/ Fetuses
/ Genetics
/ Humans
/ Huntington Disease - diagnosis
/ Huntington Disease - genetics
/ Male
/ Medicine
/ Mutation
/ Plasma
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