Preimplantation Genetic Diagnosis For Cystic Fibrosis: A Case Report.

dc.creatorBiazotti, Maria Cristina Santoro
dc.creatorPinto Junior, Walter
dc.creatorAlbuquerque, Maria Cecília Romano Maciel de
dc.creatorFujihara, Litsuko Shimabukuro
dc.creatorSuganuma, Cláudia Haru
dc.creatorReigota, Renata Bednar
dc.creatorBertuzzo, Carmen Sílvia
dc.date
dc.date2016-05-23T19:42:41Z
dc.date2016-05-23T19:42:41Z
dc.date.accessioned2018-03-29T01:29:56Z
dc.date.available2018-03-29T01:29:56Z
dc.identifierEinstein (são Paulo, Brazil). v. 13, n. 1, p. 110-113
dc.identifier2317-6385
dc.identifier10.1590/S1679-45082015RC2738
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/25993078
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/235805
dc.identifier25993078
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1304048
dc.descriptionCystic 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.
dc.description13
dc.description110-113
dc.languageeng
dc.languagepor
dc.relationEinstein (são Paulo, Brazil)
dc.relationEinstein (Sao Paulo)
dc.rightsfechado
dc.sourcePubMed
dc.subjectAdult
dc.subjectBiopsy
dc.subjectBlastocyst
dc.subjectCystic Fibrosis
dc.subjectFemale
dc.subjectFertilization In Vitro
dc.subjectHumans
dc.subjectMale
dc.subjectMedical Illustration
dc.subjectMutation
dc.subjectPregnancy
dc.subjectPregnancy Outcome
dc.subjectPreimplantation Diagnosis
dc.subjectTreatment Outcome
dc.titlePreimplantation Genetic Diagnosis For Cystic Fibrosis: A Case Report.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución