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

Ron Hochstenbach; Peter G J Nikkels; Martin G Elferink; Martijn A Oudijk; Carla van Oppen; Patrick van Zon; Jeske van Harssel; Heleen Schuring-Blom; Godelieve C M L Page-Christiaens

doi:10.1002/ccr3.285

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

Ron Hochstenbach, Peter G J Nikkels, Martin G Elferink, Martijn A Oudijk, Carla van Oppen, Patrick van Zon, Jeske van Harssel, Heleen Schuring-Blom, Godelieve C M L Page-Christiaens

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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.

Original language	English
Pages (from-to)	489-91
Number of pages	3
Journal	Clinical case reports
Volume	3
Issue number	6
DOIs	https://doi.org/10.1002/ccr3.285
Publication status	Published - Jun 2015

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

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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AU - Hochstenbach, Ron

AU - Nikkels, Peter G J

AU - Elferink, Martin G

AU - Oudijk, Martijn A

AU - van Oppen, Carla

AU - van Zon, Patrick

AU - van Harssel, Jeske

AU - Schuring-Blom, Heleen

AU - Page-Christiaens, Godelieve C M L

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N2 - 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.

AB - 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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SP - 489

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JO - Clinical case reports

JF - Clinical case reports

IS - 6

ER -

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

Abstract

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