OBJECTIVES: Familial Amyloid Polyneuropathy (FAP) is a rare, rapidly progressive, debilitating and life-threatening neurodegenerative disease. Pre-symptomatic genetic testing (PST) can contribute to reduce FAP prevalence, informing carriers about risk of transmission to offspring’s and available reproductive options such as Pre Natal Diagnosis (PND) or Pre Implantation Genetic Diagnosis (PGD). This study aims to describe FAP carrier’s reproductive options after PST and to analyse its socio-demographic determinants. METHODS: Data from a cohort of 145 FAP carriers that underwent PST at Medical Genetics Unit (HP/CHUC – Portugal, 2000-2012) was used to analyse reproductive options of FAP carrier’s. An econometric logistic model was specified to identify determinants for natural reproduction option. RESULTS: The subjects were mainly women (55%) with mean age of 35 years (SD=15) at PST entry. Most participants were in a relationship 92/145 (63%) and mean number years of education was 9 years (SD=14). 75/145 (52%) of subjects were already parents, reporting a total of 144 children. 21/145 (14%) subjects decided not to have offspring following their positive test result. No child adoption was reported. 27/145 (19%) of subjects report offspring posteriori to PST: 19/27 (70%) subjects undergo natural reproduction and 8/27 (30%) reproduction with PND or PGD support. A total of 9 offspring non-FAP carriers (with PND/PGD) and 24 offspring from natural reproduction were observed until data collection. The logistic regression for decide on natural reproduction confirms statistical significance (p-value<0.05) for only two variables: being in relationship and having previous children. No statistical significance was observed for gender, age at PST or number of education years. CONCLUSIONS: There is evidence of a high proportion of carriers with offspring’s when initiate PST and high proportion of natural reproduction within FAP carriers after PST. An ethical physiological case-by-case approach is essential to learn more about the determinants for preventing FAP offspring transmission.