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.
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.affiliation: Department of Pathology, University Medical Center Utrecht, The Netherlands.
authors.forename: Peter G J
authors.initials: PG
authors.lastname: Nikkels
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.
authors.forename: Martin G
authors.initials: MG
authors.lastname: Elferink
authors.affiliation: Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands.
authors.forename: Martijn A
authors.initials: MA
authors.lastname: Oudijk
authors.affiliation: Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands.
authors.forename: Carla
authors.initials: C
authors.lastname: van Oppen
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.
authors.forename: Patrick
authors.initials: P
authors.lastname: van Zon
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.
authors.forename: Jeske
authors.initials: J
authors.lastname: van Harssel
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, The Netherlands.
authors.forename: Heleen
authors.initials: H
authors.lastname: Schuring-Blom
authors.affiliation: Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands.
authors.forename: Godelieve C M L
authors.initials: GC
authors.lastname: Page-Christiaens
keywords: Cell-free fetal DNA (cfDNA); cytotrophoblast; mesenchyme; noninvasive prenatal testing; placenta