Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA 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 (cfDNA) pool by cytotrophoblasts representing a demised, aneuploid cotwin may lead to a false‐positive outcome for a normal, viable twin. We show that...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930198/
https://www.ncbi.nlm.nih.gov/pubmed/29744057
http://dx.doi.org/10.1002/ccr3.1424
Descripción
Sumario: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.

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