Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do Porto

Valdrez, K.; Alves, E.; Coelho, T.; Silva, S.

Publication

Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do Porto

2014Journal article

dc.contributor.author	Valdrez, K.
dc.contributor.author	Alves, E.
dc.contributor.author	Coelho, T.
dc.contributor.author	Silva, S.
dc.date.accessioned	2015-06-23T10:26:26Z
dc.date.available	2015-06-23T10:26:26Z
dc.date.issued	2014
dc.description.abstract	Introduction: The Familial Amyloid Polyneuropathy, with the world’s largest focus in Portugal, is recognized by the National Board of Assisted Reproductive Technologies as a serious disease eligible for Preimplantation Genetic Diagnosis. This study aims to determine the prevalence of the use of Preimplantation Genetic Diagnosis in FAP carriers followed in Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, and to identify the associated factors. Material and Methods: Between January and May 2013, a representative sample of Portuguese Familial Amyloid Polyneuropathy carriers, aged between 18 and 55 years, was systematically recruited. The analysis is based on 111 carriers with previous familial diagnosis, who reported having ever tried to get pregnant after 2001. Data on sociodemographic characteristics and use of Preimplan¬tation Genetic Diagnosis were collected through a self-administered questionnaire. Proportions were compared using the chi-square test. Crude and adjusted odds ratios (OR) and the respective confidence intervals of 95% (95% CI) were estimated using multivariate logistic regression. Results: The prevalence of use of Preimplantation Genetic Diagnosis was 20.7% (95% CI: 13.6-29.5). After adjustment, a household income above 1000 €/month (OR = 11.87; 95% CI 2.87-49.15) was directly associated with the use of Preimplantation Genetic Diag¬nosis, while carriers with an individual diagnosis (OR = 0.15; 95% CI 0.04-0.57) and children born after 2001 (OR = 0.07; 95% CI 0.02- 0.32) revealed a prevalence of use significantly lower than those with a individual diagnosis and children born before 2001. Discussion: The low prevalence of use of Preimplantation Genetic Diagnosis, as well as the less frequent use of the technique by those with a lower household income, shows the importance of improving access to Preimplantation Genetic Diagnosis in the case of Familial Amyloid Polyneuropathy. Conclusion: This work contributes to increase the sensitivity of health professionals around the use and accessibility to Preimplanta¬tion Genetic Diagnosis among Familial Amyloid Polyneuropathy carriers.	por
dc.description.sponsorship	This study was based on the Public Health Master’s thesis by Kátia Valdrez, presented at the Faculty of Medicine of the University of Porto and is supported by FEDER funding through the COMPETE program and by National funding by the FCT – Fundação para a Ciência e Tecnologia through FCOMP-01-0124-FEDER-014453 (FCT PTDC/CS-ECS/110220/2009) project and the Investigador FCT (IF/00956/2013) program	por
dc.identifier.citation	Acta Med Port. 2014 Nov-Dec;27(6):710-6	por
dc.identifier.issn	0870-399X
dc.identifier.uri	http://hdl.handle.net/10400.16/1810
dc.language.iso	eng	por
dc.peerreviewed	yes	por
dc.publisher	Centro Editor Livreiro da Ordem dos Médicos	por
dc.relation	FCOMP-01-0124-FEDER-014453 (FCT PTDC/CS-ECS/110220/2009)	por
dc.relation.publisherversion	http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/4972/4153	por
dc.subject	Preimplantation Diagnosis	por
dc.subject	Amyloid Neuropathies	por
dc.subject	Familial	por
dc.subject	Genetic Testing	por
dc.subject	Assisted Reproductive Technologies	por
dc.title	Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do Porto	por
dc.title.alternative	Prevalência do uso de diagnóstico genético pré-Implantação na Unidade Clínica de Paramiloidose do Centro Hospitalar do Porto	por
dc.type	journal article
dspace.entity.type	Publication
oaire.citation.conferencePlace	Portugal	por
oaire.citation.endPage	716	por
oaire.citation.startPage	710	por
oaire.citation.title	Acta Médica Portuguesa	por
oaire.citation.volume	27(6)	por
rcaap.rights	openAccess	por
rcaap.type	article	por