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

Author

Hochstenbach R, Elferink MG, van Zon PHA, Lichtenbelt KD, van Harssel J, Schuring-Blom H, and Page-Christiaens GCML

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.

Published
2018
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