Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin

Ron Hochstenbach; Martin G Elferink; Patrick H A van Zon; Klaske D Lichtenbelt; Jeske van Harssel; Heleen Schuring-Blom; Godelieve C M L Page-Christiaens

doi:10.1002/ccr3.1424

Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin

Clin Case Rep. 2018 Mar 7;6(5):788-791. doi: 10.1002/ccr3.1424. eCollection 2018 May.

Authors

Ron Hochstenbach¹, Martin G Elferink¹, Patrick H A van Zon¹, Klaske D Lichtenbelt¹, Jeske van Harssel¹, Heleen Schuring-Blom¹, Godelieve C M L Page-Christiaens²

Affiliations

¹ Department of Genetics University Medical Centre Utrecht Utrecht The Netherlands.
² Department of Obstetrics and Gynecology University Medical Centre Utrecht Utrecht The Netherlands.

Abstract

One of the confounders in noninvasive prenatal testing (NIPT) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell-free DNA (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false-positive outcome for a normal, viable twin. We show that a vanishing trisomy-14 twin contributes to cfDNA for more than 2 weeks after demise.

Keywords: Cell‐free DNA; false‐positive result; noninvasive prenatal testing; vanishing twin.

Publication types

Case Reports