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

  • Hochstenbach R
  • Nikkels P
  • Elferink M
  • et al.
Clinical Case Reports (2015) 3(6) 489-491
DOI: 10.1002/ccr3.285
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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.

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Hochstenbach, R., Nikkels, P. G. J., Elferink, M. G., Oudijk, M. A., van Oppen, C., van Zon, P., … Page‐Christiaens, G. C. M. L. (2015). Cell‐free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case. Clinical Case Reports, 3(6), 489–491. https://doi.org/10.1002/ccr3.285

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