Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin. Issue 5 (7th March 2018)

• Record Type: Journal Article
• 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.
• Is Part Of: Clinical case reports. Volume 6:Issue 5(2018)
• Page Start: 788
• Page End: 791
• Publication Date: 2018-03-07
• Subjects: Cell‐free DNA -- false‐positive result -- noninvasive prenatal testing -- vanishing twin; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1424
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.