A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.
Jin LiMingshui XieFang WangJianhong MaJiafu LiChen ChenZhimin LiJuan WangYuanzhen ZhangYi-Rong LiPublished in: Molecular genetics & genomic medicine (2020)
Overall, the complicated nature of our case underlines the importance of discussing with parents the possibility of both atypical and discordant results during preconfirmatory amniocentesis counseling and consent.