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

Ron Hochstenbach; Martin G Elferink; Patrick H A van Zon; Klaske D Lichtenbelt; Jeske van Harssel; Heleen Schuring-Blom; Godelieve C M L Page-Christiaens

doi:10.1002/ccr3.1424

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

Ron Hochstenbach
, Martin G Elferink
, Patrick H A van Zon
, Klaske D Lichtenbelt
, Jeske van Harssel
, Heleen Schuring-Blom
, Godelieve C M L Page-Christiaens

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	788-791
Number of pages	4
Journal	Clinical case reports
Volume	6
Issue number	5
DOIs	https://doi.org/10.1002/ccr3.1424
Publication status	Published - May 2018

Keywords

Cell-free DNA
false-positive result
noninvasive prenatal testing
vanishingtwin

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10.1002/ccr3.1424

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

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.",

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author = "Ron Hochstenbach and Elferink, \{Martin G\} and \{van Zon\}, \{Patrick H A\} and Lichtenbelt, \{Klaske D\} and \{van Harssel\}, Jeske and Heleen Schuring-Blom and Page-Christiaens, \{Godelieve C M L\}",

year = "2018",

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AU - Hochstenbach, Ron

AU - Elferink, Martin G

AU - van Zon, Patrick H A

AU - Lichtenbelt, Klaske D

AU - van Harssel, Jeske

AU - Schuring-Blom, Heleen

AU - Page-Christiaens, Godelieve C M L

PY - 2018/5

Y1 - 2018/5

N2 - 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.

AB - 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.

KW - Cell-free DNA

KW - false-positive result

KW - noninvasive prenatal testing

KW - vanishingtwin

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DO - 10.1002/ccr3.1424

M3 - Article

C2 - 29744057

SN - 2050-0904

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SP - 788

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JF - Clinical case reports

IS - 5

ER -

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

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Keywords

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