Artículos de revistas
Preimplantation Genetic Diagnosis For Cystic Fibrosis: A Case Report.
Registro en:
Einstein (são Paulo, Brazil). v. 13, n. 1, p. 110-113
2317-6385
10.1590/S1679-45082015RC2738
25993078
Autor
Biazotti, Maria Cristina Santoro
Pinto Junior, Walter
Albuquerque, Maria Cecília Romano Maciel de
Fujihara, Litsuko Shimabukuro
Suganuma, Cláudia Haru
Reigota, Renata Bednar
Bertuzzo, Carmen Sílvia
Institución
Resumen
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. 13 110-113