RESUMO
Preimplantation genetic diagnosis (PGD) has been applied worldwide for a great variety of single-gene disorders over the last 20 years. The aim of this work was to perform a double-factor preimplantation genetic diagnosis (DF-PGD) protocol in a family at risk for Lynch syndrome. The family underwent a DF-PGD approach in which two blastomeres from each cleavage-stage embryo were biopsied and used for monogenic and comprehensive cytogenetic analysis, respectively. Fourteen embryos were biopsied for the monogenic disease and after multiple displacement amplification (MDA), 12 embryos were diagnosed; 5 being non-affected and 7 affected by the disease. Thirteen were biopsied to perform the aneuploidy screening by short-comparative genomic hybridization (CGH). The improved DF-PGD approach permitted the selection of not only healthy but also euploid embryos for transfer. This has been the first time a double analysis of embryos has been performed in a family affected by Lynch syndrome, resulting in the birth of two healthy children. The protocol described in this work offers a reliable alternative for single-gene disorder assessment together with a comprehensive aneuploidy screening of the embryos that may increase the chances of pregnancy and birth of transferred embryos.
Assuntos
Aneuploidia , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Transferência Embrionária , Diagnóstico Pré-Implantação/métodos , Proteínas Adaptadoras de Transdução de Sinal/genética , Biópsia , Blastocisto/citologia , Blastocisto/metabolismo , Blastômeros/citologia , Blastômeros/metabolismo , Neoplasias Colorretais Hereditárias sem Polipose/prevenção & controle , Hibridização Genômica Comparativa , Feminino , Fertilização in vitro , Testes Genéticos/métodos , Humanos , Masculino , Proteína 1 Homóloga a MutL , Mutação , Proteínas Nucleares/genética , Linhagem , GravidezRESUMO
The paraovarian cyst ploughs to little frequency in pediatric population. We report a case of twist proved at surgery, and the difficulty of preoperatory diagnosis. It is very important to consider the possibility of twist to be a complication of a paraovarian cyst to try to prevent salpinguectomy.
Assuntos
Cistos Ovarianos/diagnóstico por imagem , Adolescente , Feminino , Humanos , Imageamento por Ressonância Magnética , Cistos Ovarianos/patologia , Cistos Ovarianos/cirurgia , Anormalidade Torcional/diagnóstico por imagem , Anormalidade Torcional/patologia , Anormalidade Torcional/cirurgia , UltrassonografiaRESUMO
Los quistes paraováricos son poco frecuentes en la población pediátrica. Se describe un caso de torsión, comprobada en la cirugía, así como las dificultades del diagnóstico preoperatorio. Es importante considerar la posibilidad de la torsión como complicación del quiste paraovárico para intentar prevenir la salpinguectomía (AU)
The paraovarian cyst ploughs to little frequency in pediatric population. We report a case of twist proved at surgery,and the difficulty of preoperatory diagnosis. It is very important to consider the possibility of twist to be a complication of a paraovarian cyst to try to prevent salpinguectomy (AU)