Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

ABSTRACT: OBJECTIVE: Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic dis...

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Detalles Bibliográficos
Autores principales: Chitty, Lyn S, Mason, Sarah, Barrett, Angela N, McKay, Fiona, Lench, Nicholas, Daley, Rebecca, Jenkins, Lucy A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657458/
https://www.ncbi.nlm.nih.gov/pubmed/25728633
http://dx.doi.org/10.1002/pd.4583

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