Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy)

• Tipo: Artigo em Revista Científica Internacional
• Data: 2018

Autores

Lopes, R (Autor) Outra; sousa, m (Autor) ICBAS; Silva, J (Autor) Outra; Cunha, M (Autor) Outra; Oliveira, C (Autor) Outra; da Silva, JT (Autor) Outra; Ferraz, L (Autor) Outra; Coelho, T (Autor) Outra; carvalho, f (Autor) FMUP; barros, a (Autor) FMUP

Revista

Título: Reproductive BioMedicine Online

Vol. 36

Páginas: 39-46

ISSN: 1472-6483

Editora: Elsevier

Indexação

ISI Web of Knowledge - 7 Citações

Scopus - 9 Citações

Outras Informações

ID Authenticus: P-00N-CWP

DOI: 10.1016/j.rbmo.2017.09.010

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8