Couples who are at risk of transmitting a genetic disease to their offspring may face difficult challenges regarding reproductive decision-making. Deciding if, and how, to purse their child wish can be a demanding process. This study aims to describe the reproductive joint decision-making process of genetically at-risk couples. A qualitative study was conducted with 16 couples (N=31) at risk of transmitting a genetic disease to their offspring and who received genetic counseling. Most couples were not aware of all available reproductive options in the Netherlands. A variety of motives was reported with almost all couples expressing a preference towards a reproductive option in which the child is genetically related to both parents. Only a few couples considered other options such as the use of donor gametes, adoption, and foster parenting. All couples indicated that they had multiple conversations to reach a mutually supported reproductive decision. Several carriers reported feelings of guilt and in some couples, the woman appeared to have a greater impact in the decision-making process as she should carry a pregnancy and should undergo medical treatments. This study provides insight in the extensive decision-making process of genetically at-risk couples and the role of both partners in this process. These findings can guide the development of genetic counseling (e.g., increase awareness of available reproductive options) and decision support for these couples.

Individuals having a genetic predisposition to cancer and their partners face challenging decisions regarding their wish to have children. This study aimed to determine the effects of an online decision aid to support couples in making an informed decision regarding their reproductive options. A nationwide pretest-posttest study was conducted in the Netherlands among 131 participants between November 2016 and May 2018. Couples were eligible for participation if one partner had a pathogenic variant predisposing for an autosomal dominant hereditary cancer syndrome. Participants completed a questionnaire before use (T0), and at 3 months (T3) after use of the decision aid to assess the primary outcome measure informed decision-making, and the secondary outcome measures decisional conflict, knowledge, realistic expectations, level of deliberation, and decision selfefficacy. T0-T3 comparisons show an overall positive effect for all outcome measures (all ps < 0.05; knowledge (ES = − 1.05), decisional conflict (ES = 0.99), participants' decision self-efficacy (ES = −0.55), level of deliberation (ES = − 0.50), and realistic expectations (ES = − 0.44). Informed decision-making increased over time and 58.0% of the participants made an informed reproductive decision at T3. The online decision aid seems to be an appropriate tool to complement standard reproductive counseling to support our target group in making an informed reproductive decision. Use of the decision aid may lessen the negative psychological impact of decision-making on couples' daily life and wellbeing.

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Purpose This study aims to describe the motives and considerations of couples carrying a structural chromosomal abnormality deciding on preimplantation genetic testing (PGT). Methods A qualitative exploratory study was conducted using semi-structured dyadic interviews with 13 couples (N = 26) carrying a structural chromosomal abnormality. All couples had an informative consultation in our PGT centre in the Netherlands. Results Almost all couples considered PGT or natural conception combined with prenatal diagnosis (PND) as the only two reproductive options. Among several considerations mentioned, the majority indicated that the wish to increase the chance of a successful pregnancy was the most important motive to opt for PGT. All couples who opted for PGT had first tried to conceive spontaneously and entered the PGT programme because of their adverse experiences during these attempts (infertility, recurrent miscarriage, termination of pregnancy, birth of an affected child). Couples that refrained from PGT were of advanced maternal age and expressed the long trajectory of PGT as the main reason to refrain. If conceiving spontaneously would not lead to an ongoing pregnancy, these couples also indicated that they would use PGT. Conclusion This study shows that couples carrying a structural chromosomal abnormality consider PGT and spontaneous conception with PND as relevant reproductive options. They are looking for the option that is in their opinion the fastest way to establish a successful pregnancy. Information on the perceived pros and cons of PGT or spontaneous conception in these couples can help to optimize counselling and psychological support during the decision-making process.

Couples at risk of transmitting a genetic disease to their offspring may experience doubts about their reproductive options. This study examines the effects of an online decision aid (DA) on the (joint) reproductive decision-making process of couples (not pregnant at time of inclusion) at risk of transmitting a genetic disease to their offspring. The primary outcome is decisional conflict, and secondary outcomes are knowledge, realistic expectations, deliberation, joint informed decision-making, and decisional self-efficacy. These outcomes were measured with a pretest-posttest design: before use (T0), after use (T1), and 2 weeks after use (T2) of the decision aid (DA). Usability of the DA was assessed at T1. Paired sample t-tests were used to compute differences between baseline and subsequent measurements. The comparisons of T0-T1 and T0-T2 indicate a significant reduction in mean decisional conflict scores with stronger effects for participants with high baseline decisional conflict scores. Furthermore, use of the DA led to increased knowledge, improved realistic expectations, and increased levels of deliberation, with higher increase in participants with low baseline scores.Decision self-efficacy only improved for participants with lower baseline scores.Participants indicated that the information in the DA was comprehensible and clearly

Introduction: Couples at high risk of transmitting a genetic disease to their offspring have several reproductive options. As decision making is often experienced as difficult, there is a need for a decision aid (DA), to assist couples in their reproductive decisionmaking process and to reduce decisional conflict and increase (joint) informed decisionmaking. This article describes the design of a nationwide randomized controlled trial to assess the efficacy of the online DA. Methods:The development of the DA was based on the International Patient Decision Aid Standards (IPDAS) guidelines. A nationwide multi-centre Randomized Controlled Trial (RCT) will be conducted in the eight genetic centres in the Netherlands to assess the effects of the DA, compared to a website with standardized information based on information provided during standard care. The required sample size is 128 couples. Participants are randomly assigned to either the intervention or control group and are asked to complete four questionnaires within six months to study the effects of the information. The questionnaires will assess decisional conflict, knowledge, attitude, deliberation, and the decision-making process between partners.Discussion: Findings of this study can help to improve the counselling of couples at risk of transmitting a genetic disease to their offspring. Additionally, it provides insight into the joint informed decision-making process of couples. This could help professionals to better support both partners during consultations.Trial registration number: N9415.