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Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case

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-f...

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Detalles Bibliográficos
Autores principales: Hochstenbach, Ron, Nikkels, Peter G J, Elferink, Martin G, Oudijk, Martijn A, van Oppen, Carla, van Zon, Patrick, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498868/
https://www.ncbi.nlm.nih.gov/pubmed/26185654
http://dx.doi.org/10.1002/ccr3.285
Descripción
Sumario: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.