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Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of samples reported has been small. We developed a call...

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Detalles Bibliográficos
Publicado en:Am J Hum Genet
Autores principales: Lo, Kitty K., Karampetsou, Evangelia, Boustred, Christopher, McKay, Fiona, Mason, Sarah, Hill, Melissa, Plagnol, Vincent, Chitty, Lyn S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716686/
https://ncbi.nlm.nih.gov/pubmed/26708752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.016
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