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

Autor: Hochstenbach R; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Nikkels PG; Department of Pathology, University Medical Center Utrecht, The Netherlands., Elferink MG; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Oudijk MA; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands., van Oppen C; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands., van Zon P; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., van Harssel J; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Schuring-Blom H; Department of Medical Genetics, University Medical Center Utrecht, The Netherlands., Page-Christiaens GC; Department of Obstetrics and Gynecology, University Medical Center Utrecht, The Netherlands.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2015 Jun; Vol. 3 (6), pp. 489-91. Date of Electronic Publication: 2015 Apr 29.
DOI: 10.1002/ccr3.285
Abstrakt: 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.
Databáze: MEDLINE
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