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Maternal Cell free DNA based screening for fetal microdeletion and the importance of careful diagnostic follow up

BACKGROUND: Noninvasive prenatal screening (NIPS) by next-generation sequencing of cell free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21, in high risk pregnancies. NIPS can identify fetal genomic microdeletions, however sensitivity and specificity have...

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Publicado en:Genet Med
Autores principales: Yatsenko, Svetlana A., Peters, David, Saller, Devereux, Chu, Tianjiao, Clemens, Michelle, Rajkovic, Aleksandar
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4496325/
https://ncbi.nlm.nih.gov/pubmed/25569438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.197
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