title: Preimplantation genetic diagnosis for BRCA1/2--a novel clinical experience.
abstract: OBJECTIVE
  To describe our 2-year experience with preimplantation genetic diagnosis (PGD) for carriers of mutations in the genes BRCA1 and BRCA2, the dilemmas incurred and the lessons learned.
  
  
  METHODS
  We collected data on those carriers of BRCA1/2 mutations who applied for PGD counseling and who decided to proceed. We describe the PGD procedures that were conducted and their outcome.
  
  
  RESULTS
  Ten carriers of BRCA1/2 mutations applied for PGD counseling, seven were healthy, and three were BC survivors. Eight women needed in vitro fertilization (IVF) because of coexisting infertility. After counseling, six opted for the procedure and five of them underwent PGD for the BRCA mutation. In one of these PGD, fluorescence in situ hybridization (FISH) analysis for chromosomes 21, X and Y was also performed. Three women conceived, each in the first treatment attempt. One of them gave birth to twins, the second to a singleton and the third is currently pregnant. During the pregnancies, dilemmas concerning PGD confirmation were discussed.
  
  
  CONCLUSIONS
  PGD is an acceptable reproductive option for BRCA mutation carriers, especially for those who require IVF due to fertility problems. Discussion of this option should be carried out with sensitivity, taking into account the age of the woman, her health, fertility status and emotional state. Confirmatory prenatal diagnosis may not always be encouraged.
authors.affiliation: Department of Human Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. msagi@hadassah.org.il
authors.forename: M
authors.initials: M
authors.lastname: Sagi
authors.forename: N
authors.initials: N
authors.lastname: Weinberg
authors.forename: A
authors.initials: A
authors.lastname: Eilat
authors.forename: E
authors.initials: E
authors.lastname: Aizenman
authors.forename: M
authors.initials: M
authors.lastname: Werner
authors.forename: E
authors.initials: E
authors.lastname: Girsh
authors.forename: Y
authors.initials: Y
authors.lastname: Siminovsky
authors.forename: D
authors.initials: D
authors.lastname: Abeliovich
authors.forename: T
authors.initials: T
authors.lastname: Peretz
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.forename: N
authors.initials: N
authors.lastname: Laufer
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004624:Embryo Transfer; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000639:trends