Reproductive decision‐making: a qualitative study among couples at increased risk of having a child with retinoblastoma

Abstract

Little is known about the reproductive decision-making process of couples with an increased risk of having a child with retinoblastoma (Rb). A qualitative study was conducted to explore the impact of prospective risk on reproductive decisions, factors influencing these decisions, and the needs of couples with regard to reproductive counselling. Fourteen couples of childbearing age who received genetic counselling between 2002 and 2006 participated in semi-structured interviews in 2008. The risk of having a child with Rb ranged from less than 1% to 50%. In most cases, the diagnosis of Rb influenced subsequent family planning. Prenatal diagnosis was used by two couples, while others refrained from having more children. Reproductive decisions were influenced by the burden of the disease for the patient and family members, the impact of ophthalmological screening under anaesthesia, and couples' perceived risk, which did not always relate to their actual risk. Reproductive choices with regard to the number of children wanted changed over time. Our findings indicate topics to be discussed during genetic counselling of couples at increased risk for a child with Rb. We suggest continued access to genetic counselling also after the initial diagnosis and treatment.

RB1mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

“…Furthermore, appropriate counselling about reproductive options can be provided to RB1 carriers and parents of children with Rb. As we have shown in previous studies, reproductive behaviour is influenced by Rb for many parents at increased risk for a child with Rb 8 9. Several patients with Rb in our cohort were unaware of the hereditary nature of their disease and conceived children who developed Rb and were not screened from birth, nor had the parents had the opportunity to consider other reproductive options, for example, prenatal diagnosis or preimplantation genetic diagnosis.…”

“…These eye exams would no longer be necessary if an increased risk could be excluded through DNA testing. Furthermore, knowledge of the presence of an RB1 mutation in the germline, or two RB1 mutations in the Rb tumour and none in the germline, can aid families in reproductive decision making,8 9 emphasising the clinical importance for RB1 mutation scanning.…”

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

“…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). Feelings of uncertainty, regret, and guilt are common (Derks-Smeets et al 2014).…”

Communication and the Decision Making Process among Couples with HIV/AIDS in Bulawayo, Zimbabwe

“…They usually also took a lead in the decision making process in that they were the ones who introduced and led the discussion. This however did not mean that it was their views or intentions that prevailed when the final decision was made as the other partner had the power to veto the decision [24][25][26] Among the study sample, only six women and one man were unemployed. All of other respondents were either in formal or informal employment.…”