Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

Abstract

Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (p < 0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (p < 0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.

Distinctive genetic variation of long‐segment Hirschsprung's disease in Taiwan

“…It also mirrored a limited practical value of prenatal gene mutation testing in genetic counseling given HSCR penetrance of 50%‐70% at most. However, preimplantation genetic diagnosis may be still considered as an optional strategy for dealing with the worries of HSCR family or healthy HSCR‐related gene variant carriers pertaining to the transmission of variants down to the offspring especially when in vitro fertilization is needed for infertility …”

Ovarian Cancer Previvors: How to manage these patients?

“…PGD decisions are complex, as reflected in a study conducted in Israel with 70 women with deleterious BRCA1/2 mutations, for whom the possibility of preventing the transmission of these mutations through PGD and IVF was offered at no cost. Only 25.7% of patients accepted the proposal, and acceptance had no relationship to age or religious beliefs 58.…”

Fertility Considerations for Reproductive-Aged Carriers of DeleteriousBRCAMutations: A Call for Early Intervention

“…[33][34][35] Reproductive medicine and reproductive genetics specialists are uniquely qualified to counsel patients through complex reproductive decision making and to assist them with weighing the benefits, risks, and limitations. 6,36,37 Financial constraints may be another hurdle facing BRCA carriers. Insurance coverage for reproductive technologies, particularly in the setting of medical need, are expanding across the country, as are employee reproductive benefits.…”