A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.,Molecular Genetics & Genomic Medicine

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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-05-28 , DOI: 10.1002/mgg3.1279
Jin Li _{1,

2} , Mingshui Xie ₃ , Fang Wang _{2,

4} , Jianhong Ma _{2,

4} , Jiafu Li _{2,

4} , Chen Chen _{5,

6} , Zhimin Li ₇ , Juan Wang ₇ , Yuanzhen Zhang _{2,

4} , Yirong Li _{1,

2}

Affiliation

Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false‐positive and false‐negative results in noninvasive prenatal testing.

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