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

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 cytotrophobla...

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Bibliographic Details
Published in:Clinical case reports 2015-06, Vol.3 (6), p.489-491
Main Authors: Hochstenbach, Ron, Nikkels, Peter G. J., Elferink, Martin G., Oudijk, Martijn A., Oppen, Carla, Zon, Patrick, Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C. M. L.
Format: Article
Language:English
Subjects:
Biopsy
Case Reports
Cell‐free fetal DNA (cfDNA)
Chromosomes
Clinical medicine
cytotrophoblast
Deoxyribonucleic acid
DNA
Fetuses
Fibroblasts
mesenchyme
noninvasive prenatal testing
Placenta
Umbilical cord
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.285