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Browsing by Author "Fortuna, A."

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  • A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
    Publication . Jorge, P.; Mota-Freitas, M.; Santos, R.; Silva, M.; Soares, G.; Fortuna, A.
    Abstract: This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality and incidence of procedure-related pregnancy loss, that declined to about 0.5% over the last 15 years. The year 2000 represented a change in referral reasons for chorionic tissue collection, shifting from almost exclusively for cytogenetic testing to an increasing number of molecular tests for monogenic disorders. Herein, success rates as well as cytogenetic and/or molecular DNA results are presented. These latter include not only tests for several monogenic disorders, but also aneuploidy and maternal cell contamination screening. This retrospective analysis reiterates that CVS is a safe and reliable first trimester technique for prenatal diagnosis in high genetic risk pregnancies.
    2014Journal article Open access Show more
  • Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
    Publication . Soares, A.; Soares, G.; Mota-Freitas, M.; Oliva-Teles, N.; Fortuna, A.
    Intellectual disability affects 2% - 3% of the general population, with a chromosomal abnormality being found in 4% - 28% of these patients and a cryptic subtelomeric abnormality in 3% - 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.
    2019-08-01Journal article Open access Show more