A 38-year-old Jerusalemite who carries the defective BRCA2 gene is probably the first woman in the world in an advanced state of pregnancy to have had her fetuses screened for the mutation as three-day-old embryos before being deemed healthy for implantation. Presence of the BRCA gene mutation significantly increases a woman’s risks of developing breast and ovarian cancer.
This Hadassah breakthrough in vitro fertilization and pre-implantation genetic diagnosis (PGD) offers hope to women who carry the mutated gene that they need not pass it on to their children. The woman who underwent the testing is due to deliver healthy twins, a daughter and a son, in less than three months. Her mother, who also carries the BRCA2 gene mutation, contracted cancer at age 55. “I have saved my children from an ongoing struggle,” she said. “I have broken the very unpleasant chain of gene mutation. Every mother wants her children to have the best chance for health; I am especially relieved that I will not have to worry about my daughter.”