title: Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers.
abstract: To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD. Prior to seeking PGD, ten of the women had no children. At the time of the interview, all but three had at least one child. Three factors emerged as key motivators for PGD: having witnessed the disease in a close relative (n = 12); prior IVF treatment for infertility (n = 12); and having pre-existing frozen embryos (n = 6). Ten women withdrew from the PGD process due to clinical, logistical, and financial reasons. In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties.
authors.affiliation: Department of Nursing, University of Haifa, PO Box 3498838, Haifa, Israel. edagan@univ.haifa.ac.il.
authors.forename: Efrat
authors.initials: E
authors.lastname: Dagan
authors.affiliation: Department of Nursing, University of Haifa, PO Box 3498838, Haifa, Israel.
authors.forename: Daphna
authors.initials: D
authors.lastname: Birenbaum-Carmeli
authors.affiliation: The Susanne-Levy Gertner Oncogenetics Unit, Sheba Medical Center, PO Box 52621, Tel Aviv, Israel.|Sackler School of Medicine, Tel Aviv University, PO Box 39040, Tel-Aviv, Israel.
authors.forename: Eitan
authors.initials: E
authors.lastname: Friedman
authors.affiliation: Sheba Medical Center, The Danek Gertner Institute of Human Genetics, PO Box 52621, Tel Aviv, Israel.
authors.forename: Baruch
authors.initials: B
authors.lastname: Feldman
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human
keywords: BRCA1/2; Decision making process; Hereditary breast and/or ovarian cancer syndrome; Preimplantation genetic diagnosis; Prenatal genetic diagnosis