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

30 Jun 2016

Abstract excerpt

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 uncovering a broader array of aneuploidies, including the rare autosomal trisomies (RATs) and the maternally inherited...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 27362910
DOI: 10.1038/gim.2016.72

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