Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8783954 | Reproductive BioMedicine Online | 2018 | 8 Pages |
Abstract
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M. Detailed demographic, stimulation, embryological, clinical and newborn outcomes were evaluated. Comparisons revealed that patients have a high likelihood of achieving a live birth per PGD treatment cycle (48%). This is the first large report on patients with the V30M mutation treated with PGD. The high rate of live birth obtained should represent a strong stimulus for patients to use PGD as it proved to be effective and safe. As a neurodegenerative disease that leads to death, it is of maximum importance that it could be eradicated using PGD in order to definitively avoid the transmission of the disease.
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Authors
Rita Lopes, Mário Sousa, Joaquina Silva, Mariana Cunha, Cristiano Oliveira, José Teixeira da Silva, LuÃs Ferraz, Teresa Coelho, Filipa Carvalho, Alberto Barros,