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.

Normativas em reprodução assistida e conhecimento das pacientes

“…Na atualidade, o método de detecção embrionária é categorizado como teste genético pré-implantacional (PGT) (Biazotti et al, 2015). Esta abordagem possibilita a detecção de eventuais condições genéticas adversas no embrião, antes de sua introdução na cavidade uterina (Scapin et al, 2021).…”

List of Main Advances in the Context of Cystic Fibrosis: Systematic Review

“…More than 1,500 different mutations have already been found in this gene (WAGENER; A HEADLEY, 2003). However, the most frequent of them occurs through a deletion of three base pairs, resulting in the loss of an amino acid (phenylalanine) at position 508 (DF508) of the CFTR protein (BIAZOTTI et al, 2015). According to Alvarez et al (2004), in their study, 81% of cystic fibrosis patients monitored at UNICAMP had the DF508 mutation.…”

Assessoria genética: uma prática que estimula a eugenia?

“…It has also diminished the probability of monogenic disorders such as Sanjad-Sakati syndrome, Canavan disease, cystic fibrosis, Tay-Sachs disease, Duchenne muscular dystrophy, and others. Because the arguments that support both the goals and results of pgd can coerce patients in their reproductive decisions, some authors consider them eugenic practices (27,(57)(58)(59)(60)(61)(62)(63)(64)(65)(66)(67)(68)(69).…”