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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Lo, Kitty K., Karampetsou, Evangelia, Boustred, Christopher, McKay, Fiona, Mason, Sarah, Hill, Melissa, Plagnol, Vincent, Chitty, Lyn S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
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Article
Online Zugang: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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