Clinical Case Reports | |
Cell‐free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case | |
Ron Hochstenbach1  Peter G. J. Nikkels3  Martin G. Elferink1  Martijn A. Oudijk2  Carla van Oppen2  Patrick van Zon1  Jeske van Harssel1  Heleen Schuring-Blom1  | |
[1] Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands;Department of Obstetrics and Gynecology, University Medical Center, Utrecht, The Netherlands;Department of Pathology, University Medical Center, Utrecht, The Netherlands | |
关键词: Cell‐free fetal DNA (cfDNA); cytotrophoblast; mesenchyme; noninvasive prenatal testing; placenta; | |
DOI : 10.1002/ccr3.285 | |
来源: Wiley | |
【 摘 要 】
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.Key Clinical Message
【 授权许可】
CC BY-NC
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
【 预 览 】
Files | Size | Format | View |
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RO202107150002880ZK.pdf | 253KB | download |