IVI Sevilla made possible the birth of an HLA-compatible baby (that is, genetically compatible) with her older sister, who was affected by Blackfan-Diamond anemia, a rare disease that affects the production of red blood cells and can lead to an increased risk of leukemia, sarcoma, and bone cancer. In addition, 50% of cases manifest congenital malformations and 30%, growth retardation.
This disease was caused by a de novo genetic mutation, since his parents were not carriers, so the risk that other children of the couple would suffer from it was very low. However, reproductive medicine, thanks to genetic tests, has contributed to the healing of the Andalusian girl.
This required a stem cell transplant from a person who was HLA-compatible, and the other daughter of the marriage was not. A genetic test, carried out at IVI Seville after a biopsy of the couple’s pre-embryos, made it possible to identify which ones could give rise to a baby whose stem cells were not rejected by the older sister.
“In this case, the probability of a healthy embryo or carrier that was HLA-compatible is just under 20%, so reproductive medicine became the perfect tool to achieve a solution,” explains Dr. Manuel Fernández , director of IVI Sevilla.
It is precisely the first case in the world in which this biopsy was performed to cure Blackfan-Diamond anemia in the blastocyst stage (5-6 days after fertilization), and from first case in Spain at this level of development for any disease, as published in the scientific literature. “Generally, a biopsy is performed on the third day, but by waiting those 2 or 3 additional days, the process is optimized, since embryos that show a lower implantation potential and, therefore, pregnancy are directly discarded”, explains Dr. Fernandez.
He tells us about it in the following video:
Since IVI was born, almost 30 years ago, it has reached several milestones in curing genetic diseases, on three occasions with HLA-compatible genetic tests. In 2012, for example, thanks to PGT, he helped cure Izan, an 11-year-old boy with adrenoleukodystrophy, to whom his little sisters Noa and Leire were able to donate stem cells because they were genetically compatible.
IVI, in a bid to incorporate the latest advances and technologies in our laboratories, offers HLA-compatible genetic tests in all its clinics, something that contrasts with a study of the European Society for Human Reproduction and Embryology (ESHRE), which ensures that only 15% of the member centers offer it among their services.
VI Conference on Assisted Reproduction at IVI Seville
This Thursday, November 14 and Friday, November 15, we celebrated the VI Assisted Reproduction Conference in Seville. This training course, which brings together more than a hundred specialists, aims to offer a global vision of the different techniques and the latest advances in this field of reproductive medicine. In it, the most recognized experts in the field of reproduction will review the latest advances in genetics, immunology and embryology.
