Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.
OBJECTIVE
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.
González-González
M Cristina
MC
Department of Genetics, Fundación Jiménez Díaz, Avda Reyes Católicos, 2, 28040 Madrid, Spain. cgonzalezg@megalab.es
Garcia-Hoyos
Maria
M
Trujillo-Tiebas
M Jose
MJ
Bustamante Aragonés
A
A
Rodriguez de Alba
M
M
Diego Alvarez
D
D
Diaz-Recasens
Joaquín
J
Ayuso
Carmen
C
Ramos
Carmen
C
D004247:DNA / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004247:DNA