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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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lo, Kitty K., Karampetsou, Evangelia, Boustred, Christopher, McKay, Fiona, Mason, Sarah, Hill, Melissa, Plagnol, Vincent, Chitty, Lyn S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Acesso em linha: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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