Fernández Raquel M, Peciña Ana, Sánchez Beatriz, Lozano-Arana Maria Dolores, García-Lozano Juan Carlos, Pérez-Garrido Rosario, Núñez Ramiro, Borrego Salud, Antiñolo Guillermo
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.
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.
Biomed Res Int. 2015;2015:406096. doi: 10.1155/2015/406096. Epub 2015 Jul 16.
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.
甲型和乙型血友病是最常见的遗传性出血性疾病，呈X连锁遗传模式。对于受血友病影响的家庭，旨在预防严重凝血障碍患儿出生的生殖选择包括植入前基因诊断（PGD）。在此，我们展示了我们在塞维利亚罗西奥圣母大学医院遗传、生殖与胎儿医学科应用于血友病的PGD项目的结果。自2005年以来，共有34对夫妇纳入我们的项目（30对为甲型血友病，4对为乙型血友病）。总体而言，共进行了60个周期，提供了总计508个胚胎。每个周期的总体移植率为81.7%，每个周期的活产率根据所应用的方法不同，在10.3%至24.1%之间。虽然血友病的PGD可以侧重于选择女性胚胎，但我们的结果表明，能够诊断每个胚胎血友病状态的方法具有显著优势。我们的PGD项目使34对夫妇中的10对（29.4%）诞下了12名健康婴儿，这在血液疾病领域对西班牙公共卫生系统而言是一项重大成就。
