Preimplantation genetic diagnosis for cystic fibrosis: a case report Diagnóstico genético pré-implantacional na fibrose cística: relato de caso

ABSTRACT Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby. Keywords: Cystic fibrosis; Fertilization in vitro ; Preimplantation genetic diagnosis; Case reports RESUMO A fibrose cistica e uma doenca autossomica recessiva causada por mutacoes no gene regulador de condutância transmembrana na fibrose cistica. Produz fenotipo variavel, incluindo doenca pulmonar, insuficiencia pancreatica, ileo meconial, alem de agenesia bilateral dos ductos deferentes, causando azoospermia obstrutiva e infertilidade masculina. O diagnostico genetico pre-implantacional e uma alternativa diagnostica, que permite identificar embrioes portadores de fibrose cistica e outras doencas geneticas. Relatamos o caso de um casal portador de fibrose cistica, sendo a mulher portadora da mutacao I148 T e o homem da mutacao genica Delta F508. O casal foi submetido a tecnicas de fertilizacao