Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism


  • Funding sources: None

  • Conflicts of interest: The co-authors, Fuman Jiang, Mei Ki Chan, Hongyun Zhang, Fang Chen, Lei Zhang and Wei Wang are employees of BGI.

Correspondence to: Wei Wang. E-mail: wangw@genomics.cn


What's already known about this topic?

  • Non-invasive prenatal testing by maternal plasma DNA sequencing is highly sensitive and specific in detecting fetal aneuploidies.

What does this study add?

  • We report a case of ‘false positive’ result of NIPT because of confined placental mosaicism.