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

Publication date

2018-05

Authors

Hochstenbach, RonISNI 0000000395817410
Elferink, Martin GISNI 0000000396955647
van Zon, Patrick H A
Lichtenbelt, KlaskeORCID 0000-0002-6370-9207ISNI 0000000390426699
van Harssel, Jeske
Schuring-Blom, G. H.
Christiaens, G. C.M.LieveISNI 0000000389494379

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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, vanishingtwin

Citation

Hochstenbach, R, Elferink, M G, van Zon, P H A, Lichtenbelt, K D, van Harssel, J, Schuring-Blom, H & Page-Christiaens, G C M L 2018, 'Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin', Clinical case reports, vol. 6, no. 5, pp. 788-791. https://doi.org/10.1002/ccr3.1424