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
收藏
页码：489 / 491
页数：3
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