A gradual change of chromosome mosaicism from placenta to fetus leading to T18 false negative result by NIPS

ConclusionFor the reason of cell-free fetal DNA (cff DNA) in the maternal circulation originates from trophoblast cells of placenta, the level of placental mosaicism could cause false negative NIPS result in multiple aneuploidies. The present study proved that a discordant T5 positive and T18 negative NIPS result was caused by placental mosaicism. This study highlights placental mosaicism as a significant risk factor for discordant NIPS results. The result will be helpful for genetic counseling and clinical management of such pregnant woman.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research