Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offerin...

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Udgivet i:Eur J Hum Genet
Main Authors: Huijsdens-van Amsterdam, Karin, Page-Christiaens, Lieve, Flowers, Nicola, Bonifacio, Michael D, Ellis, Katie M Battese, Vogel, Ida, Vestergaard, Else Marie, Miguelez, Javier, de Carvalho, Mario Henrique Burlacchini, Sistermans, Erik A, Pertile, Mark D
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6138668/
https://ncbi.nlm.nih.gov/pubmed/29899373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0188-1
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