Open AccessCell‐free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case
Author(s) -
Hochstenbach Ron,
Nikkels Peter G. J.,
Elferink Martin G.,
Oudijk Martijn A.,
Oppen Carla,
Zon Patrick,
Harssel Jeske,
SchuringBlom Heleen,
PageChristiaens Godelieve C. M. L.
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.285
Subject(s) - cytotrophoblast , cell free fetal dna , umbilical cord , fetus , medicine , chorionic villi , andrology , mesenchymal stem cell , trisomy , prenatal diagnosis , placenta , genetics , pregnancy , biology , pathology , anatomy
Key Clinical Message 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.