Anna Doffini

Single‐cell‐based non‐invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis

Tamara Stampalija, Claudio Forcato, F. R. Grati, P. Volpe et autres

OBJECTIVE: Pathogenic or likely pathogenic copy-number variants (p/lpCNVs) are a significant cause of perinatal morbidity and mortality. Current prenatal screening based on cell-free DNA (cfDNA) fails to detect the majority of microimbalances (microdeletions/microduplications), leaving a significant residual risk of undetected chromosomal abnormalities. …

it, jp (code pays fourni par la source)

P815: Single-cell sequencing of circulating trophoblasts for non-invasive fetal pathogenic copy number variant screening: First large-scale clinical validation study results

Francesca Romana Grati, Tamara Stampalija, Claudio Forcato, Paolo Volpe et autres

it (code pays fourni par la source)

P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood

Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada et autres

Introduction: Congenital anemias are a rare genetic cause of nonimmune hydrops fetalis (NIHF).Congenital anemias might be amenable to blood transfusions.Our objective was to review the spectrum of congenital anemias in cases of NIHF diagnosed by exome sequencing (ES).Methods: A systematic review of …

it, sg (code pays fourni par la source)

Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling

Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada et autres

OBJECTIVE: To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection. METHODS: Determination of …

it, sg (code pays fourni par la source)

Digital Sorting of Pure Cell Populations Enables Unambiguous Genetic Analysis of Heterogeneous Formalin-Fixed Paraffin-Embedded Tumors by Next Generation Sequencing

Chiara Bolognesi, Claudio Forcato, Genny Buson, Francesca Fontana et autres

Precision medicine in oncology requires an accurate characterization of a tumor molecular profile for patient stratification. Though targeted deep sequencing is an effective tool to detect the presence of somatic sequence variants, a significant number of patient specimens do not meet the …

nl, it (code pays fourni par la source)

Abstract 371: Longitudinal genetic characterization of circulating tumor cells in metastatic breast cancer patients

Valeria Sero, Francesca De Luca, Anna Doffini, Francesca Galardi et autres

Abstract Background: Little is known about the evolution of genetic aberrations during metastatic cancer progression and in response to systemic treatment. Obtaining repeated tissue biopsies is often impractical. On the other hand, it has been shown that circulating tumor cells (CTCs) can …

it, de (code pays fourni par la source)

Abstract 1552: Image-based microchip sorting of pure, immuno-phenotypically defined subpopulations of tumor cells from tiny formalin-fixed paraffin embedded (FFPE) samples reveals their distinct genetic features

Chiara Bolognesi, Anna Doffini, Genny Buson, Rossana Lanzellotto et autres

Abstract Background: We provide a solution of pressing needs in preparation of FFPE samples for genomic analysis: small sample size, unwanted admixture of normal cells, analysis of tumor rare-cell subpopulations present at low percentages in the tumor fraction. Methods: We disaggregated into …

nl (code pays fourni par la source)

Molecular profiling of single circulating tumor cells with diagnostic intention

Bernhard Michael Polzer, Gianni Medoro, Sophie Pasch, Francesca Fontana et autres

Several hundred clinical trials currently explore the role of circulating tumor cell (CTC) analysis for therapy decisions, but assays are lacking for comprehensive molecular characterization of CTCs with diagnostic precision. We therefore combined a workflow for enrichment and isolation of pure CTCs …

de, it (code pays fourni par la source)