TY - JOUR
T1 - Peutz-Jeghers syndrome and family planning
T2 - The attitude towards prenatal diagnosis and pre-implantation genetic diagnosis
AU - Van Lier, Margot G.F.
AU - Korsse, Susanne E.
AU - Mathus-Vliegen, Elisabeth M.H.
AU - Kuipers, Ernst J.
AU - Van Den Ouweland, Ans M.W.
AU - Vanheusden, Kathleen
AU - Van Leerdam, Monique E.
AU - Wagner, Anja
PY - 2012/2
Y1 - 2012/2
N2 - 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 pre-implantation 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 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (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 emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.
AB - 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 pre-implantation 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 44 (range 18-74) years. A total of 37 (71%) respondents had undergone genetic testing. In all, 24 respondents (46%, 75% males) had children. A total of 15 (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 emphasise the importance of discussing aspects regarding family planning with PJS patients, including PND and PGD.
KW - family planning
KW - genetic testing
KW - Peutz-Jeghers syndrome
KW - pre-implantation genetic diagnosis
KW - prenatal diagnosis
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U2 - 10.1038/ejhg.2011.152
DO - 10.1038/ejhg.2011.152
M3 - Article
C2 - 21829227
AN - SCOPUS:84855769552
SN - 1018-4813
VL - 20
SP - 236
EP - 239
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -
