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

• Type: Article in International Scientific Journal
• Date: 2018

Authors

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

Journal

Title: Reproductive BioMedicine Online

Vol. 36

Pages: 39-46

ISSN: 1472-6483

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 7 Citations

Scopus - 9 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8