Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case
Publication date
2015-06
Authors
Hochstenbach, Ron
Nikkels, Peter G J
Elferink, Martin G
Oudijk, Martijn A.
van Oppen, Carla
van Zon, P
van Harssel, Jeske
Schuring-Blom, G. H.
Christiaens, G. C.M.Lieve
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Abstract
Noninvasive prenatal testing (NIPT) and direct karyotyping of cytotrophoblast were normal for a male fetus, but cultured chorionic villus mesenchymal cells and umbilical cord fibroblasts showed nonmosaic trisomy 18. This observation provides direct evidence for the cytotrophoblastic origin of cell-free fetal DNA and yields a biological explanation for falsely reassuring NIPT results.
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Journal Article
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Hochstenbach, R, Nikkels, P G J, Elferink, M G, Oudijk, M A, van Oppen, C, van Zon, P, van Harssel, J, Schuring-Blom, H & Page-Christiaens, G C M L 2015, 'Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast : proof from an unique case', Clinical case reports, vol. 3, no. 6, pp. 489-91. https://doi.org/10.1002/ccr3.285