Estudi de les anomalies cromosòmiques detectades prenatalment i postnatalment per mètodes citogenètics i anàlisi de la contribució dels diferents mètodes de cribratge en la detecció de les anomalies prenatals. Hospital Universitari Dr. Josep Trueta, període 1999-2009
- Autores: Mercè Alsius Suñer
- Directores de la Tesis: Rosa Aleixandre Cerarols (dir. tes.), Anna Soler Casas (dir. tes.)
- Lectura: En la Universitat de Girona ( España ) en 2012
- Idioma: catalán
- Tribunal Calificador de la Tesis: Alberto Plaja Rustein (presid.), Marc Sáez Zafra (secret.), Nuria Clusellas Casals (voc.), J. Sabrià Rius (voc.), Anna Massaguer Vall-Llovera (voc.)
- Programa de doctorado: CIÈNCIES EXPERIMENTALS I SOSTENIBILITAT
- Materias:
- Enlaces
- Tesis en acceso abierto en: TDX
- Resumen
Chromosome abnormalities are one of the most important causes of congenital disorders. The main goal of this research is to give a broad view of the use and evolution of prenatal and postnatal cytogenetic diagnosis in Girona province between 1999 and 2009. It also aims at linking prenatal cytogenetic diagnosis with the existing screening methods. The main conclusions are the following: - A rise in the use of cytogenetic diagnosis has been detected. This has been caused by a growing preventive medicine trend. - Case studies match the literature consulted when the study population is similar in accordance with national health policies. - The overall sensitivity of obstetric ultrasound scan was 60,8%, and this result matches, and in many cases exceeds, those found in the literature consulted. - The moving from second-trimester to first-trimester aneuploidy prenatal screening has meant a significant increase in aneuploidy detections. - Prenatal cytogenetic diagnosis appears as an interdisciplinary field in which the extent of prenatal screening tests, like obstetric ultrasound scans and aneuploidy screening, is crucial.
