ArticleEuropean journal of human genetics : EJHG2012
Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review.Journal of genetic counseling · 2025Pooled it
- Preferences regarding preconceptional and genetic counselling and pregnancy check-ups among women with the PLN p. (Arg14del) variant.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2026Article
- Mental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.Familial cancer · 2026Article
- Progress report: Peutz-Jeghers syndrome.Familial cancer · 2024Review
- Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.Heliyon · 2024Review
- Prenatal diagnosis of hereditary diffuse gastric cancer: a case report.BMC pregnancy and childbirth · 2023Article
- Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome.Hereditary cancer in clinical practice · 2022Article
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.BMC medical genetics · 2018Article
- Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome.British dental journal · 2017Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
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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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