Preimplantation genetic diagnosis: patients' experiences and attitudes

Lavery, Stuart; Aurell, R.; Turner, C.; Castelló, C; Veiga, Anna; Barri, P. N.; Winston, R. M. L.

doi:10.1093/humrep/17.9.2464

Cited by 122 publications

(103 citation statements)

References 19 publications

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“…PGD for hereditary cancer is particularly controversial and is still not widely used. [4][5][6][7] Lavery et al 8 found that PGD users (for diseases other than FAP) and who also had experience with PND reported that the experience of PND followed by termination had a negative impact and that PGD is a potentially valuable alternative. Although the first PGD procedures for FAP were already performed in 1998, 3 the availability of both PND and PGD for FAP still varies between countries.…”

Section: Introductionmentioning

confidence: 99%

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

et al. 2009

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Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA testing, PND and PGD among members of families at high risk for FAP. In this nationwide, cross-sectional study, questionnaires were sent to individuals from families at high risk for FAP assessing attitudes toward and experiences with childhood testing, PND and PGD, as well as several sociodemographic, clinical and psychosocial variables. Of the individuals from FAP families invited to participate in the study, 525 members participated (response rate¼64%). Most parents who had children who were minors (n¼93) (82%) were satisfied with the DNA testing procedure. One-third of all individuals wanted DNA testing for their children before age 12. Forty percent of FAP patients indicated that the disease influenced their desire to have children. Only 15% considered termination of pregnancy for FAP acceptable. Approximately 30% of individuals with a FAP diagnosis and their partners considered PND and PGD as acceptable for themselves. A positive attitude was associated with higher levels of guilt and a positive attitude toward termination of pregnancy. Importantly, of those with FAP at childbearing age, 84% had had no previous information at all about either PND or PGD. Future efforts should be aimed at educating FAP family members about reproductive options, allowing them to make an informed choice about family planning. Routine discussion of all reproductive options with a medical specialist should be encouraged.

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Section: Introductionmentioning

confidence: 99%

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

et al. 2009

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“…114 According to the study, PGD was acceptable to most patients and offered a valuable alternative to PND, but undergoing IVF itself was associated with stress and anxiety: 41% of patients found the PGD cycle extremely stressful, especially the time waiting after embryo transfer for a pregnancy result and time waiting after the initial consultation before a treatment cycle. The patients regarded as the main advantage of PGD that only unaffected embryos were transferred to the uterus and thus therapeutic termination could be avoided.…”

mentioning

confidence: 98%

“…114 Counselling has been noted to provide help in areas of psychological assistance, technical explanations and discussing relationships. 136 At best, genetic counsellors are sensitive also for the burden of an infertility diagnosis and the emotional impact -including anxiety and ethical questions -of different treatment options.…”

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confidence: 99%

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

et al. 2006

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“…This preference has been observed before in couples with different genetic disorders, including cancer susceptibility syndromes as hereditary breast and ovarian cancer and familial adenomatous polyposis syndrome. [19][20][21][22][23] In a recent study among couples with a broad spectrum of genetic disorders, 74% of couples preferred PGD over PND for diagnostic testing in a future pregnancy. 24 The preference for PGD can partly be explained by the fact that PGD offers patients the possibility to have an unaffected genetically related child while termination of a pregnancy can be avoided.…”

Section: Discussionmentioning

confidence: 99%

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

Lier¹,

Korsse²,

Mathus-Vliegen

et al. 2011

Eur J Hum Genet

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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 crosssectional 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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Preimplantation genetic diagnosis: patients' experiences and attitudes

Abstract: The experience of prenatal diagnosis and termination of pregnancy can be an unwelcome memory and this leads to a demand for an alternative approach. Our data suggest that PGD is acceptable to patients and is a valuable alternative to prenatal diagnosis.

Cited by 122 publications

References 19 publications

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

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

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