title: Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.
abstract: Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
authors.forename: Raquel M
authors.initials: RM
authors.lastname: Fernández
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Peciña
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Sánchez
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
authors.forename: Maria Dolores
authors.initials: MD
authors.lastname: Lozano-Arana
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: García-Lozano
authors.affiliation: Hemophilia Unit, University Hospital Virgen del Rocío, 41013 Seville, Spain.
authors.forename: Rosario
authors.initials: R
authors.lastname: Pérez-Garrido
authors.affiliation: Hemophilia Unit, University Hospital Virgen del Rocío, 41013 Seville, Spain.
authors.forename: Ramiro
authors.initials: R
authors.lastname: Núñez
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D000328:Adult; D004622:Embryo, Mammalian / Q000502:physiology; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics*; D006785:Hospitals, University; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D013030:Spain