PMID- 19248143
OWN - NLM
STAT- MEDLINE
DCOM- 20090825
LR  - 20191210
IS  - 1097-0223 (Electronic)
IS  - 0197-3851 (Linking)
VI  - 29
IP  - 5
DP  - 2009 May
TI  - Preimplantation genetic diagnosis for BRCA1/2--a novel clinical experience.
PG  - 508-13
LID - 10.1002/pd.2232 [doi]
AB  - 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.
CI  - (c) 2009 John Wiley & Sons, Ltd.
FAU - Sagi, M
AU  - Sagi M
AD  - Department of Human Genetics, Hadassah-Hebrew University Medical Center, 
      Jerusalem, Israel. msagi@hadassah.org.il
FAU - Weinberg, N
AU  - Weinberg N
FAU - Eilat, A
AU  - Eilat A
FAU - Aizenman, E
AU  - Aizenman E
FAU - Werner, M
AU  - Werner M
FAU - Girsh, E
AU  - Girsh E
FAU - Siminovsky, Y
AU  - Siminovsky Y
FAU - Abeliovich, D
AU  - Abeliovich D
FAU - Peretz, T
AU  - Peretz T
FAU - Simon, A
AU  - Simon A
FAU - Laufer, N
AU  - Laufer N
LA  - eng
PT  - Case Reports
PT  - Evaluation Study
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Breast Neoplasms/genetics
MH  - DNA Mutational Analysis/methods
MH  - Embryo Transfer
MH  - Female
MH  - *Genes, BRCA1
MH  - *Genes, BRCA2
MH  - Genetic Carrier Screening/methods
MH  - Humans
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - Preimplantation Diagnosis/*methods/trends
EDAT- 2009/02/28 09:00
MHDA- 2009/08/26 09:00
CRDT- 2009/02/28 09:00
PHST- 2009/02/28 09:00 [entrez]
PHST- 2009/02/28 09:00 [pubmed]
PHST- 2009/08/26 09:00 [medline]
AID - 10.1002/pd.2232 [doi]
PST - ppublish
SO  - Prenat Diagn. 2009 May;29(5):508-13. doi: 10.1002/pd.2232.