Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

What's already known about this topic? Discordant NIPT results can rarely unravel maternal malignancies, especially when multiple chromosomal imbalances are reported. Both solid and hematological neoplasms have been described. What does this study add? This is the first case of a discordant NIP...

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Detalles Bibliográficos
Autores principales: Di Giosaffatte, Niccolò, Bottillo, Irene, Laino, Luigi, Iaquinta, Giovanni, Ferraris, Alessandro, Garzia, Mariagrazia, Bargiacchi, Simone, Mulargia, Claudia, Angelitti, Maria Rosaria, Palumbo, Fabiana, Grammatico, Barbara, Bartolelli, Cinzia, Salerno, Maria Giovanna, Rigacci, Luigi, Grammatico, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546086/
https://www.ncbi.nlm.nih.gov/pubmed/35506546
http://dx.doi.org/10.1002/pd.6158
Descripción
Sumario:What's already known about this topic? Discordant NIPT results can rarely unravel maternal malignancies, especially when multiple chromosomal imbalances are reported. Both solid and hematological neoplasms have been described. What does this study add? This is the first case of a discordant NIPT result due to Chronic Lymphocytic Leukemia associated with trisomy of the chromosome 12. Putative maternal malignancy should be considered and investigated through sensitive techniques even in presence of a single chromosomal anomaly. This must be considered especially when the imbalance is known to recur in hematological neoplasms.

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