title: Preimplantation genetic diagnosis for cystic fibrosis: a case report.
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.
authors.affiliation: Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
authors.forename: Maria Cristina Santoro
authors.initials: MC
authors.lastname: Biazotti
authors.affiliation: Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Walter
authors.initials: W
authors.lastname: Pinto Junior
authors.affiliation: Centro Cochrane do Brasil, São Paulo, SP, Brazil.
authors.forename: Maria Cecília Romano Maciel de
authors.initials: MC
authors.lastname: Albuquerque
authors.affiliation: Centro de Reprodução Humana Fertivitro, São Paulo, SP, Brazil.
authors.forename: Litsuko Shimabukuro
authors.initials: LS
authors.lastname: Fujihara
authors.affiliation: Centro de Medicina Reprodutiva, Campinas, SP, Brazil.
authors.forename: Cláudia Haru
authors.initials: CH
authors.lastname: Suganuma
authors.affiliation: Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Renata Bednar
authors.initials: RB
authors.lastname: Reigota
authors.affiliation: Universidade Estadual de Campinas, Campinas, SP, Brazil.
authors.forename: Carmen Sílvia
authors.initials: CS
authors.lastname: Bertuzzo
mesh_terms: D000328:Adult; D001706:Biopsy; D001755:Blastocyst / Q000473:pathology; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D006801:Humans; D008297:Male; D008488:Medical Illustration; D009154:Mutation; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D016896:Treatment Outcome