Table 1.
Characteristics of included studies
| Author (year) | Country | Aim | Study design | Materials | Sample | Personal cancer history | Main results |
|---|---|---|---|---|---|---|---|
| Chan et al. (2017) | USA | Investigate how knowledge of BRCA status influences the decision to use PGD and PND. | Cross-sectional | Ad hoc questionnaire |
Total sample = 1081 Women = 1081 Men = 0 |
History = 390 No history = 691 |
The presence of pathogenetic variant, personal history of cancer, and being single impacted on the decision to have a/another child. |
| Dekeuwer et al. (2013) | France | Investigate the way in which carriers of a mutation on the BRCA (1or 2) make their reproductive decisions. | Qualitative | Semi-structured interview |
Total sample = 20 Women = 19 Men = 1 |
History = 12 No history = 8 |
Carriers are mainly concerned by the risk of transmitting “much more than a gene,” that is painful experiences. |
| Derks-Smeets et al. (2014) | Netherlands | Investigate how couples with a BRCA1/2mutation decide on PGD and PND. | Qualitative | Semi-structured interview |
Total sample = 44 Women = 22 Men = 22 |
History = 2 No history = 42 |
Couples wanted to protect the future child from the BRCA pathogenetic variant. There were psychological motives to choose or reject PGD. |
| Donnely et al. (2013) | UK | Investigate how young women with a BRCA mutation approach reproductive decision-making. | Qualitative | Semi-structured interview |
Total sample = 25 Women = 25 Men = 0 |
History = 6 No history = 19 |
Females with pathogenetic variant felt a sense of urgency to have a child. |
| Fortuny et al. (2009) | Spain | Explore the opinion about reproductive decisions among individuals undergoing BRCA1/2 testing. | Cross-sectional |
Interviews HADS SF-12 |
Total sample = 77 Women = 67 Men = 10 |
History = 54 No history = 23 |
Cancer diagnosis was positively associated with PGD; older age and high educational level with PND. |
| Gietel-Habets et al. (2017) | Netherlands | Examine what is the attitude among couples with BRCA mutation towards reproductive options. | Cross-sectional | Ad hoc questionnaire |
Total sample = 191 Women = 167 Men = 24 |
History = 40 No history = 151 |
Cancer diagnosis was positively associated with PGD; younger age and high educational level with PND. |
| Hurley et al. (2012) | USA | Explore the interesting of BRCA1/2 mutation carriers in learning about reproductive options. | Qualitative | Interviews |
Total sample = 33 Women = 29 Men = 3 |
History = 0 No history = 33 |
The stress of genetic testing temporarily interfered with decision-making process. |
| Jiulian-Reynier et al. (2012) | France | Assess the impact of BRCA1/2 test results on carriers’ reproductive decision-making and their intentions about PGD and PND. | Cross-sectional |
Ad hoc questionnaire, CRP, PHS |
Total sample = 600 Women = 449 Men = 151 |
History = 0 No history = 600 |
Reproductive plans were accelerated in pathogenetic variant carriers because of the possibility to undergo preventive surgery. Males found PND more acceptable than females. |
| Menon et al. (2007) | UK | Explore opinion of BRCA carriers on preimplantation genetic diagnosis as a reproductive option. | Cross-sectional | Ad hoc questionnaire |
Total sample = 54 Women = 54 Men = 0 |
History = 26 No history = 24 |
The majority of pathogenetic variant carriers are favorable that PGD is proposed, but most females would not personally consider it. Younger age, less religiosity, and cancer diagnosis were positively associated with PGD. |
| Mor et al. (2018) | Israel | Evaluate PGD uptake, decision satisfaction or regret, and predictors of uptake in BRCA mutation carriers. | Cross-sectional |
Ad hoc questionnaire, DRS, SWD |
Total sample = 70 Women = 70 Men = 0 |
History = 0 No history = 70 |
Previous infertility was the only significant predictor of PGD. |
| Ormondroyd et al. (2012) | UK | Explore reproductive decision-making, knowledge, and attitudes to reproductive options with women who received a positive BRCA test. | Qualitative | Semi-structured interviews |
Total sample = 25 Women = 25 Men = 0 |
History = 6 No history = 19 |
PGD was considered acceptable because it would prevent transmission to future generations, but females had concerns about selecting embryos. |
| Quinn et al. (2010) | UK | Explore perceptions and attitudes towards PGD among males who either carry a BRCA mutation or have a partner or a first relative with BRCA mutation. | Cross-sectional | Ad hoc questionnaire |
Total sample = 228 Women = 0 Men = 228 |
History = 7 No history = 221 |
Cancer diagnosis, age, religion, having children, and have a family member with pathogenetic variant were factors significantly associated with PGD. |
| Reumkens et al. (2018) | Netherlands | Investigate reproductive decision-making in couples with a high cancer risk mutation. | Qualitative | Semi-structured interviews |
Total sample = 14 Women = 7 Men = 7 |
History = 0 No history = 14 |
Couples expressed a need for a complete explanation of the procedures and techniques used in PND and PGD in order to be helped to decide. |
| Smith et al. (2004) | USA | Test whether fertility intentions differed among persons who tested positive, tested negative, or did not know their genetic status for a mutation of the BRCA1 gene. | Longitudinal |
Semi-structured interview, IES, Perceived risk of breast cancer |
Total sample = 101 Women = 67 Men = 34 – Carriers = 25 Non carriers = 62 Unknown = 14 |
Not reported | Being a BRCA pathogenetic variant carrier was associated with lower intentions to have children (or additional children). |
| Vadaparampil et al. (2009) | USA | To assess sociodemographic, clinical, awareness, and attitudinal factors associated with acceptance of PGD among women at high risk of OC, BC. | Cross-sectional | Ad hoc questionnaire |
Total sample = 962 Women = 962 Men = 0 |
History = 601 No history = 361 |
Significant predictors of PGD acceptance were the desire to have children, having had a prenatal genetic test, belief that PGD is acceptable, concerns about PGD, perceived benefits. |
| Werner-Lin et al. (2012) | USA | Investigate how BRCA1/2 mutation carriers understand genetic inheritance and consider a child’s inheritance. | Qualitative | Interviews |
Total sample = 39 Women = 34 Men = 5 |
History = 0 No history = 39 |
Participants even with the genetic pathogenetic variant took the risk of transmitting it to their children and were more in favor of biological reproduction. |
PGD preimplantation genetic diagnosis, PND prenatal diagnosis, OC ovarian cancer, BC breast cancer, HADS Hospital Anxiety and Depression Scale, SF-12 Physical and Mental Health Short Form, IES Impact of Event Scale, DRS Decision Regret Scale, SWD Satisfaction With Decision scale, CRP Cancer Risk Perception, PHS Perceived Health Status