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Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. C...

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Detalhes bibliográficos
Publicado no:N Engl J Med
Main Authors: Snyder, Matthew W., Simmons, LaVone E., Kitzman, Jacob O., Coe, Bradley P., Henson, Jessica M., Daza, Riza M., Eichler, Evan E., Shendure, Jay, Gammill, Hilary S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4411081/
https://ncbi.nlm.nih.gov/pubmed/25830323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1408408
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