A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Abstract Background 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. Methods Next‐generatio...

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Autores principales: Jin Li, Mingshui Xie, Fang Wang, Jianhong Ma, Jiafu Li, Chen Chen, Zhimin Li, Juan Wang, Yuanzhen Zhang, Yirong Li
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley 2020-08-01
Colección:Molecular Genetics & Genomic Medicine
Materias:
chromosomal abnormalities
confined placental mosaicism
NIPT
prenatal diagnosis
trisomy
Acceso en línea:https://doi.org/10.1002/mgg3.1279
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