Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.
Ivonne Alexandra BedeiTascha GehrkeKarl-Philipp GloningMatthias Meyer-WittkopfDaria WillnerMartin KrappAlexander ScharfJan DegenhardtKai-Sven HelingPeter KozlowskiKathrin TrautmannKai M JahnsAnnegret GeipelJan-Erik BaumüllerLucas WilhelmIngo GottschalkAndreas SchröerAlexander GrafAline WolterJohanna SchenkAxel WeberIgnatia B Van den VeyverRoland Axt-FliednerPublished in: Prenatal diagnosis (2023)
Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.