Article
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.
Prenatal diagnosis - 1 Aug 2016
Janssens Katrien, Deiteren Kathleen, Verlinden Anke, Rooms Liesbeth, Beckers Sigri, Holmgren Philip, Vermeulen Katrien, Maes Marie-Berthe, Mortier Geert, Blaumeiser Bettina
Abstract excerpt
OBJECTIVE: Non-invasive prenatal tests (NIPTs) interrogating the complete genome are able to detect not only fetal trisomy 13, 18 or 21 but additionally provide information on other (sub)chromosomal aberrations that can be fetal or maternal in origin. We demonstrate that in a subset of cases, this information is clinically relevant and should be reported to ensure adequate follow-up. METHOD: Genome-wide NIPT was...
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