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

Clinical Case Reports

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 】

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.

【 授权许可】

CC BY-NC   
© 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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