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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Medicina Clínicaarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Medicina Clínica
Article . 2017 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Recomendaciones para el uso de microarrays en el diagnóstico prenatal

Authors: Javier Suela; Isabel López-Expósito; María Eugenia Querejeta; Rosa Martorell; Esther Cuatrecasas; Lluis Armengol; Eugenia Antolín; +5 Authors

Recomendaciones para el uso de microarrays en el diagnóstico prenatal

Abstract

Resumen La tecnologia de microarrays, de reciente implantacion en el diagnostico prenatal internacional, se ha convertido en uno de los pilares de este diagnostico en cuanto a su capacidad de deteccion y objetividad de resultados. La presente guia comprende una exposicion general de la tecnologia, incluyendo aspectos tecnicos y diagnosticos a tener en cuenta. En concreto, se definen: los distintos tipos de muestras prenatales que se van a utilizar (biopsia de vellosidades corionicas, liquido amniotico, sangre procedente de cordon umbilical o material procedente de restos abortivos) asi como las particularidades de cada una de ellas; que puntos hay que tener en cuenta de cara a la elaboracion de un consentimiento informado y de la emision de un informe de microarray prenatal, especialmente en el caso de la posible definicion de variantes de significado incierto; las limitaciones inherentes a la tecnica que deben ser tenidas en cuenta a la hora de recomendar su uso diagnostico; asi como un algoritmo pormenorizado de situaciones clinicas, donde se recomienda el uso de microarrays y su incorporacion a la rutina clinica en el contexto de otras pruebas geneticas, incluyendo embarazos con antecedentes familiares o hallazgos sugerentes de un sindrome concreto, translucencia nucal incrementada en el primer trimestre o cardiopatia congenita en el segundo trimestre y hallazgos ecograficos no relacionados con un sindrome conocido o especifico. Esta guia ha sido coordinada por la Asociacion Espanola de Diagnostico Prenatal (AEDP), la Asociacion Espanola de Genetica Humana (AEGH) y la Sociedad Espanola de Genetica Clinica y Dismorfologia (SEGCyD).

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
12
Top 10%
Average
Top 10%
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