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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Med
Prif Awduron: Pescia, Graziano, Guex, Nicolas, Iseli, Christian, Brennan, Liam, Osteras, Magne, Xenarios, Ioannis, Farinelli, Laurent, Conrad, Bernard
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Original Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5303761/
https://ncbi.nlm.nih.gov/pubmed/27362910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.72
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