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Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases

PURPOSE: Cell-free DNA (cfDNA) testing for fetal aneuploidies was broadly implemented for common trisomies and sex-chromosome anomalies (SCAs). However, such an approach identifies only 75 to 85% of clinically relevant aneuploidies. METHODS: We present a consecutive series of 6,388 cases, thus uncov...

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Detalles Bibliográficos
Autores principales: Pescia, Graziano, Guex, Nicolas, Iseli, Christian, Brennan, Liam, Osteras, Magne, Xenarios, Ioannis, Farinelli, Laurent, Conrad, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303761/
https://www.ncbi.nlm.nih.gov/pubmed/27362910
http://dx.doi.org/10.1038/gim.2016.72