Reproductive behavior of individuals with increased risk of having a child with retinoblastoma

Abstract

To investigate reproductive behavior of individuals at increased risk of having a child with retinoblastoma (Rb), we conducted a cross-sectional questionnaire survey among 118 counselees visiting the Clinical Genetics Department of the National Rb Center in the Netherlands. The recurrence risk for counselees ranged from <1% to 50%. The response rate was 69%. Of 43 respondents considering having children after becoming aware of their increased risk, Rb influenced reproductive behavior for 25 (58%), of whom 14 had a recurrence risk <3%. Twenty of these 25 decided against having more children and 5 used prenatal diagnosis. Eighteen of the 43 respondents did not use any of the alternative reproductive options and had children (or more children), although half indicated having had doubts about their decisions. Multiple logistic regression showed that only perceived risk (p = 0.003) was significantly associated with Rb influencing reproductive behavior. Of 17 respondents planning children (or more children), 11 (65%) considered using one of the alternative reproductive options. We conclude that reproductive behavior is greatly influenced by Rb and that perceived risk, not objective risk, is the most important factor of influence. It is important to offer individuals at increased risk continued access to genetic counseling, even when this risk is small.

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.…”

Psychosocial Outcomes in Adult Survivors of Retinoblastoma

“…This is similar to increased worry influencing reproductive behavior, as reported in smaller studies of RB survivors. 7,11 Our findings characterize RB survivors as a fairly healthy and resilient group but highlight some potential areas for future research and clinical counseling. Although RB survivors were coping well, survivors of bilateral disease endorsed greater fears of recurrence or second malignant neoplasms as well as fears of passing RB to their children, perhaps highlighting a greater need for long-term psychosocial and genetic counseling.…”

“…[7][8][9][10][11][12][13] Survivors' reproductive behaviors have also been influenced by the perceived risk of having a child with RB. [7][8][9][10][11][12][13] However, interpretation of these studies has generally been limited by small sample sizes and lack of comparison populations.…”

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

“…We previously reported on reproductive decisions of couples at risk of having a child with retinoblastoma (Rb), a rare type of eye cancer in early childhood [3, 4]. Several couples who participated in these studies reported that they had chosen PND to prevent the birth of an affected child with Rb.…”