Non-invasive prenatal aneuploidy testing at chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

OBJECTIVE: Develop a non-invasive prenatal test based on analysis of cell-free DNA in maternal blood to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y. METHODS: 166 samples from pregnant women, including eleven trisomy 21, three trisomy 18, two trisomy 13, two 45,X, and two 47,XXY sampl...

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Autori principali: Zimmermann, Bernhard, Hill, Matthew, Gemelos, George, Demko, Zachary, Banjevic, Milena, Baner, Johan, Ryan, Allison, Sigurjonsson, Styrmir, Chopra, Nikhil, Dodd, Michael, Levy, Brynn, Rabinowitz, Matthew
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548605/
https://ncbi.nlm.nih.gov/pubmed/23108718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.3993
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