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

被引：12

作者：

Hochstenbach, Ron ^{[1
]}

Nikkels, Peter G. J. ^{[2
]}

Elferink, Martin G. ^{[1
]}

Oudijk, Martijn A. ^{[3
]}

van Oppen, Carla ^{[3
]}

van Zon, Patrick ^{[1
]}

van Harssel, Jeske ^{[1
]}

Schuring-Blom, Heleen ^{[1
]}

Page-Christiaens, Godelieve C. M. L. ^{[3
]}

机构：

[1] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

[2] Univ Med Ctr, Dept Pathol, Utrecht, Netherlands

[3] Univ Med Ctr, Dept Obstet & Gynecol, Utrecht, Netherlands

来源：

CLINICAL CASE REPORTS | 2015年 / 3卷 / 06期

关键词：

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

D O I：

10.1002/ccr3.285

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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.

引用

页码：489 / 491

页数：3

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