PMID- 25674777
OWN - NLM
STAT- MEDLINE
DCOM- 20160909
LR  - 20220210
IS  - 1530-0366 (Electronic)
IS  - 1098-3600 (Linking)
VI  - 17
IP  - 11
DP  - 2015 Nov
TI  - Savior siblings and Fanconi anemia: analysis of success rates from the family's 
      perspective.
PG  - 935-8
LID - 10.1038/gim.2014.206 [doi]
AB  - PURPOSE: The current curative treatment of Fanconi anemia is hematopoietic stem 
      cell transplantation; this treatment has a higher rate of successful outcome when 
      donors are compatible siblings. Therefore some families opt to have a healthy and 
      compatible baby after selecting an embryo using preimplantation genetic diagnosis 
      with human leukocyte antigen (HLA) typing. This study aims to estimate the 
      success rate of this procedure from the family's perspective. METHODS: Genetic 
      and embryology data were collected from genetic reports provided by the families. 
      RESULTS: A total of 524 oocytes (14.1 oocytes/cycle) and 299 embryos were 
      generated (8.0 embryos/cycle) after 38 in vitro fertilization cycles. Sixteen 
      embryos were transferred to the uterus because they were non-Fanconi anemia and 
      HLA matched. One baby was born. A younger couple delivered a healthy and 
      HLA-compatible baby after four cycles. Therefore, the success rate per cycle is 
      less than 5% (two babies from 42 trials). CONCLUSION: While Fanconi anemia per se 
      does not worsen the probability of success, a critical factor is advanced 
      maternal age; a late diagnosis leads to few transferrable embryos and high rates 
      of aneuploidy. Families should be informed in advance of the many trials that 
      they will probably need to undergo even if a haploidentical younger relative is 
      available as an oocyte donor.
FAU - Trujillo, Juan P
AU  - Trujillo JP
AUID- ORCID: 0000-0001-5901-9388
AD  - Department of Genetics and Microbiology, Genome Instability and DNA Repair Group, 
      Universitat Autonoma de Barcelona (UAB), Barcelona, Spain.
AD  - Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
FAU - Surralles, Jordi
AU  - Surralles J
AUID- ORCID: 0000-0002-4041-7519
AD  - Department of Genetics and Microbiology, Genome Instability and DNA Repair Group, 
      Universitat Autonoma de Barcelona (UAB), Barcelona, Spain.
AD  - Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150212
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Adult
MH  - Aneuploidy
MH  - Fanconi Anemia/*diagnosis/*genetics/therapy
MH  - Female
MH  - Fertilization in Vitro
MH  - Genetic Testing
MH  - Hematopoietic Stem Cell Transplantation
MH  - Histocompatibility/genetics/immunology
MH  - Histocompatibility Testing
MH  - Humans
MH  - Male
MH  - Pregnancy
MH  - Pregnancy Outcome
MH  - *Preimplantation Diagnosis/methods
MH  - *Siblings
MH  - *Tissue Donors
MH  - Transplantation, Homologous
MH  - Treatment Outcome
EDAT- 2015/02/13 06:00
MHDA- 2016/09/10 06:00
CRDT- 2015/02/13 06:00
PHST- 2014/10/13 00:00 [received]
PHST- 2014/12/19 00:00 [accepted]
PHST- 2015/02/13 06:00 [entrez]
PHST- 2015/02/13 06:00 [pubmed]
PHST- 2016/09/10 06:00 [medline]
AID - S1098-3600(21)03144-0 [pii]
AID - 10.1038/gim.2014.206 [doi]
PST - ppublish
SO  - Genet Med. 2015 Nov;17(11):935-8. doi: 10.1038/gim.2014.206. Epub 2015 Feb 12.