TY - JOUR
T1 - Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin
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
U2 - 10.1002/ccr3.1424
DO - 10.1002/ccr3.1424
M3 - Article
C2 - 29744057
SN - 2050-0904
VL - 6
SP - 788
EP - 791
JO - Clinical case reports
JF - Clinical case reports
IS - 5
ER -