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Article Dans Une Revue European Journal of Human Genetics Année : 2011

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and preimplantation genetic diagnosis.

Résumé

Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS patients towards family planning, prenatal diagnosis (PND) and pregnancy termination and preimplantation genetic diagnosis (PGD). In a cross-sectional study, 61 adult PJS patients were asked to complete a questionnaire concerning genetic testing, family planning, PND and PGD. The questionnaire was completed by 52 patients (85% response rate, 44% males) with a median age of 45 (range 18-74) years. Thirty-seven (71%) respondents had undergone genetic testing. Twenty-four respondents (46%, 75% males) had children. Fifteen (29%) respondents reported that their diagnosis of PJS had influenced their decisions regarding family planning, including 10 patients (19%, 9/10 females) who did not want to have children because of their disease. Termination of pregnancy after PND in case of a foetus with PJS was considered 'acceptable' for 15% of the respondents, whereas 52% considered PGD acceptable. In conclusion, the diagnosis of PJS influences the decisions regarding family planning in one third of PJS patients, especially in women. Most patients have a negative attitude towards pregnancy termination after PND, while PGD in case of PJS is judged more acceptable. These results emphasize the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.

Domaines

Génétique
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Dates et versions

hal-00668574 , version 1 (10-02-2012)

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Susanne E. Korsse, Margot G.F. van Lier, Lisbeth M.H. Mathus-Vliegen, Ernst J. Kuipers, Ans van den Ouweland, et al.. Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and preimplantation genetic diagnosis.. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.152⟩. ⟨hal-00668574⟩

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