Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cf DNA by a demised trisomy‐14 cotwin

One of the confounders in noninvasive prenatal testing ( NIPT ) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell‐free DNA (cf DNA ) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false‐positive outcome for a normal, viable twin. We show t...

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Published in:Clinical case reports 2018-05, Vol.6 (5), p.788-791
Main Authors: Hochstenbach, Ron, Elferink, Martin G., van Zon, Patrick H. A., Lichtenbelt, Klaske D., van Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.
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Language:English
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Summary:One of the confounders in noninvasive prenatal testing ( NIPT ) is the vanishing twin phenomenon. Prolonged contribution to the maternal Cell‐free DNA (cf DNA ) 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 cf DNA for more than 2 weeks after demise.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1424