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J Genet Couns. 2018 Dec;27(6):1386-1394. doi: 10.1007/s10897-018-0264-2. Epub 2018 Jun 1.

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

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Shaare Zedek Medical Center, Jerusalem, Israel.
University of Toronto, 155 College Street, Toronto, Ontario, M5T 1P8, Canada.


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 (pā€‰<ā€‰0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (pā€‰<ā€‰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.


BRCA mutations; Genetic counseling; Legal and ethical; Predictors; Preimplantation genetic diagnosis (PGD); Psychosocial; Uptake


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