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. 2012 Feb;20(2):236-9.
doi: 10.1038/ejhg.2011.152. Epub 2011 Aug 10.

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

Margot G F van Lier  1 , Susanne E Korsse, Elisabeth M H Mathus-Vliegen, Ernst J Kuipers, Ans M W van den Ouweland, Kathleen Vanheusden, Monique E van Leerdam, Anja Wagner
Affiliations

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis

Margot G F van Lier et al. Eur J Hum Genet. 2012 Feb.

Abstract

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.

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Figures

Figure 1
Figure 1
Attitude of PJS patients towards termination of pregnancy after PND and PGD in case of PJS. PND: acceptance of termination of pregnancy after PND in case of PJS. PGD: acceptance of the use of PGD in case of PJS.
See this image and copyright information in PMC

References

    1. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184–187. - PubMed
    1. Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998;18:38–43. - PubMed
    1. Peutz JLA. Over een zeer merkwaardige, gecombineerde familiaire polyposis van de slijmliezen van den tractus intestinalis met die van de neuskeelholte en gepaard met eigenaardige pigmentaties van huid en slijmvliezen. Ned Maandschr v Geneesk. 1921;10:134–146.
    1. McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63:2135–2144. - PMC - PubMed
    1. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136:71–82. - PubMed