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

• 发表时间: Jun 2015
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.285
• PMID: 26185654
• 文章类型: Case Reports
• 作者列表: Hochstenbach R,Nikkels PG,Elferink MG,Oudijk MA,van Oppen C,van Zon P,van Harssel J,Schuring-Blom H,Page-Christiaens GC

关键词: Cell-free fetal DNA (cfDNA); cytotrophoblast; mesenchyme; noninvasive prenatal testing; placenta

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.