Development of tools for the study of cell-free dna in human blood. Application in the noninvasive prenatal testing field
- Autores: Anna Montaner Domènech
- Directores de la Tesis: Jairo Rodríguez Lumbiarres (codir. tes.), Juan Ramón González Ruiz (codir. tes.)
- Lectura: En la Universitat Pompeu Fabra ( España ) en 2019
- Idioma: español
- Tribunal Calificador de la Tesis: Robert Castelo Valdueza (presid.), Josep Roma Castañé (secret.), Antoni Borrell Vilaseca (voc.)
- Programa de doctorado: Programa de Doctorado en Biomedicina por la Universidad Pompeu Fabra
- Materias:
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- Resumen
The discovery of cell-free DNA (cfDNA) in blood and the advent of massive parallel sequencing technologies has revolutionized the prenatal screening field by providing a better risk assessment of fetal chromosomal alterations than traditional first trimester screening alone and, as a consequence, potentially reducing the number of women unnecessarily undergoing confirmatory invasive diagnostic tests. The so-called noninvasive prenatal testing (NIPT) field is nowadays being exploited by worldwide companies racing to offer cfDNA tests covering an increasing number of fetal conditions, not without ethical concerns. This Thesis has explored the use of a proprietary targeted sequencing approach as an alternative cost-effective methodology for extracting biological information contained in cfDNA that can be applied in the NIPT field but also in other relevant clinical settings like cancer. Results have shown the developed of our proprietary technology has managed to cover the basic concepts of a NIPT test, consisting in the noninvasive prenatal detection of fetal chromosomal aneuploidies, the determination of fetal sex and the estimation of the fetal fraction. In addition, the technology has proved to have a competitive cost in today's overcrowded NIPT market.
