Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer

Derks-Smeets, I.A.P.; Gietel-Habets, J.J.G.; Tibben, Aad; Tjan‐Heijnen, Vivianne C. G.; Meijer‐Hoogeveen, M.; Geraedts, J. P. M.; Golde, R. van; Gómez-García, Encarna B.; Bogaart, Erika van den; Hooijdonk, M. van; Die-Smulders, C.E.M. de; Osch, L.A.D.M. van

doi:10.1093/humrep/deu034

Cited by 82 publications

(121 citation statements)

References 39 publications

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“…This decision may set in motion a cascade of decisions, including deciding on whether or not to inform family members and, if available, whether or not to take up periodic screening and preventive therapies in case of a confirmed mutation. Carriers of reproductive age additionally face challenging decisions regarding one’s wishes to have children and the welfare of their future child(ren) (Dekeuwer and Bateman 2013; Derks-Smeets et al 2014). As most types of hereditary cancer are transmitted in an autosomal dominant pattern, there is a 50% risk of transmitting the mutation.…”

Section: Introductionmentioning

confidence: 99%

“…In deliberating the options for fulfilling one’s wish to have children, couples carefully consider various personal values and advantages and disadvantages of all reproductive options, previously categorized into physical, psychological, social, ethical, and practical considerations (Derks-Smeets et al 2014). Research has demonstrated that couples often experience the reproductive decision-making process as very difficult (Dekeuwer and Bateman 2013; Dommering et al 2010; Ormondroyd et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Reumkens

Oudheusden

Gietel-Habets

et al. 2018

Journal of Genetic Counseling

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For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling. Many similarities were found between the expressed preferences and needs of both stakeholder groups concerning the content, barriers and facilitating factors regarding the use of the decision aid, and its implementation. Emphasis was placed on the use of simple non-medical language, an extensive explanation of the procedures and techniques used in prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD), and the role of health care providers to refer couples to the decision aid. Both stakeholder groups were in favor of incorporating narrative stories in the decision aid. Integrating the present findings with knowledge on reproductive decisional motives and considerations is essential in guiding the development of a decision aid that corresponds to the preferences and needs of end-users. Trial registration: NTR5467

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Reumkens

Oudheusden

Gietel-Habets

et al. 2018

Journal of Genetic Counseling

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“…One recent study from the Netherlands showed that PGD is an acceptable choice for couples with hereditary breast and ovarian cancer (HBOC). 6 In the first decade after the first published paper on PGD, the technique was used as an alternative to prenatal diagnosis for severe lethal inherited diseases. 7 Indications for PGD have since been extended to adult-onset diseases such as Huntington chorea and spinocerebellar ataxia as well as diseases with incomplete penetrance such as hereditary cancer syndromes.…”

Section: Discussionmentioning

confidence: 99%

“…A recent study revealed that a proportion of couples with HBOC refused prenatal testing even following natural conception. 6 In view of the growing number of requests for postnatal cord blood confirmation for these adultonset multifactorial diseases, its use in FAP families was discussed in our PGD ethics committee. This committee comprised reproductive medicine subspecialists, a clinical geneticist, maternal fetal medicine subspecialists, and laboratory in-charge.…”

Section: Discussionmentioning

confidence: 99%

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

et al. 2016

Hong Kong Med J

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A 33-year-old woman was referred for consideration of PGD because she was a BRCA2 gene mutation carrier. She had cancer of the right breast at the age of 24 years and underwent modified radical mastectomy with axillary dissection and immediate latissimus dorsi flap reconstruction. Adjuvant chemoradiotherapy was given and she was prescribed tamoxifen for 5 years after the operation. Her paternal grandmother had breast cancer diagnosed at the age of 60 years. Genetic screening was performed and confirmed the patient to be a BRCA2 mutation carrier. Her elder brother and her father underwent the spot test and were found to carry a BRCA2 mutation but her younger sister was not affected. Laparoscopic ovarian cystectomy was performed for a hyperechoic cyst noted over the right ovary, which was confirmed to be an endometriotic cyst. After a multidisciplinary meeting of clinical geneticists, breast surgeons, oncologists, gynaecologists, psychologists, nurses, and academics in the ethics department, followed by psychological assessment and also counselling, she was offered in-vitro fertilisation (IVF) and PGD. Her IVF and PGD cycle was performed in 2011, using an antagonist protocol with letrozole co-treatment. Fifteen oocytes were retrieved and 12 were fertilised following intracytoplasmic sperm injection (ICSI). Blastomere biopsy was performed on eight goodquality cleaving embryos and five were confirmed to be free of the BRCA2 mutation. Two unaffected blastocysts were transferred, resulting in a singleton pregnancy and one unaffected blastocyst was cryopreserved. She delivered a baby boy at term by caesarean section. Postnatal cord blood confirmed that the baby boy did not carry the BRCA2 mutation. Case 2A 33-year-old woman was referred for PGD because she was a carrier of FAP truncating germline mutation APC c.532-8G>A (NG_008481:g93262G>A) with a strong family history of colonic cancer. She underwent colonoscopy surveillance and more than 100 small colonic polyps were found. She was advised to have a prophylactic colectomy but was firm in her request to get pregnant with PGD treatment before the definitive treatment while fully understanding the risks of malignancy because of the delay in definitive treatment. She underwent an IVF cycle in 2012. Of 19 oocytes retrieved, 16 underwent ICSI. Fifteen were fertilised and 15 embryos were available for blastomere biopsy on day 3. Five embryos were found without the FAP mutation and four goodquality blastocysts were cryopreserved due to the risk of ovarian hyperstimulation syndrome. She failed to conceive in two frozen embryo transfer (FET) cycles with one blastocyst replaced in each cycle. She subsequently underwent the last FET cycle with two blastocysts transferred, and a consequent singleton pregnancy. The pregnancy is 26 weeks' gestation at the time of writing. The couple refused an invasive prenatal test and requested postnatal cord blood confirmation. Case 3A 37-year-old patient was referred from a clinical geneticist for PGD as her husband was diagnosed to have neuro...

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“…Preimplantation genetic diagnosis of predisposition to inherited cancer such as breast cancer (BRCA mutation) is also emerging. 6 Nonetheless, social sexing is prohibited in Hong Kong and Europe. Legislation and regulation of PGD also vary among different countries.…”

Section: Recent Advances In Preimplantation Genetic Diagnosismentioning

confidence: 99%

Recent advances in preimplantation genetic diagnosis

Leung

2015

Hong Kong Med J

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Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer

Abstract: Not applicable.

Cited by 82 publications

References 39 publications

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience

Recent advances in preimplantation genetic diagnosis

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