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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Detalles Bibliográficos
Autores principales: Yatsenko, Svetlana A., Peters, David, Saller, Devereux, Chu, Tianjiao, Clemens, Michelle, Rajkovic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496325/
https://www.ncbi.nlm.nih.gov/pubmed/25569438
http://dx.doi.org/10.1038/gim.2014.197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496325/
https://www.ncbi.nlm.nih.gov/pubmed/25569438
http://dx.doi.org/10.1038/gim.2014.197

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