Medline ® Abstract for Reference 109
of 'Clinical manifestations and diagnosis of Fanconi anemia'
Savior siblings and Fanconi anemia: analysis of success rates from the family's perspective.
Trujillo JP, Surralles J
Genet Med. 2015 Nov;17(11):935-8. Epub 2015 Feb 12.
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.
Department of Genetics and Microbiology, Genome Instability and DNA Repair Group, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.