title: A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.
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.
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. paula.jorge@chporto.min-saude.pt.|Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal. paula.jorge@chporto.min-saude.pt.
authors.forename: Paula
authors.initials: P
authors.lastname: Jorge
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. manuela.freitas@chporto.min-saude.pt.|Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal. manuela.freitas@chporto.min-saude.pt.
authors.forename: Maria Manuela
authors.initials: MM
authors.lastname: Mota-Freitas
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. rosario.santos@chporto.min-saude.pt.|Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal. rosario.santos@chporto.min-saude.pt.
authors.forename: Rosário
authors.initials: R
authors.lastname: Santos
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. m.luz.silva@chporto.min-saude.pt.
authors.forename: Maria Luz
authors.initials: ML
authors.lastname: Silva
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. gabriela.soares@chporto.min-saude.pt.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Soares
authors.affiliation: Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. ana.fortuna@chporto.min-saude.pt.|Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP, Rua Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal. ana.fortuna@chporto.min-saude.pt.
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Fortuna
keywords: chorionic villus sampling; chromosomal abnormality/aneuploidy; fetal loss; maternal age; maternal cell contamination; monogenic disorders; prenatal diagnosis; prenatal referrals