14 November 2019

A baby succeeds in curing his sister’s rare disease, thanks to the genetic compatibility test

Laboratorio IVI Sevilla
By the Editorial Comitee IVI Blog

IVI Sevilla has enabled the birth of a baby who is genetically compatible with his older sister, who was suffering from Diamond-Blackfan anaemia, a rare disease that affects the production of red blood cells and that can lead to a greater risk of suffering from leukaemia, sarcoma and bone cancer. Furthermore, 50% of cases present congenital malformations and 30% of cases involve growth retardation.

This disease came about as a result of a de novo genetic mutation, as the girl’s parents were not carriers, meaning that the risk of other children born to the couple suffering from it was very low. However, it was reproductive medicine, thanks to genetic testing, that contributed to curing the girl from Andalusia.

The cure called for a transplant of stem cells from an individual who was HLA compatible, and the couple’s other daughter was not a match. A genetic test, carried out at IVI Sevilla following a biopsy of the couple’s pre-embryos, enabled the doctors to identify which of these could give rise to a baby whose stem cells would not be rejected by the older sister.

“In this case, the probability of having a healthy or carrier embryo that was HLA compatible is somewhat less than 20%. As such, reproductive medicine presented itself as the perfect tool for finding a solution,” explained Dr Manuel Fernández, Director of IVI Sevilla.

This is the very first case in the world in which a biopsy has been carried out in this way to cure Diamond-Blackfan anaemia at blastocyst stage (5-6 days after fertilisation), and the first case in Spain at this stage of development for any disease, according to reports in the scientific literature. “Generally speaking, embryos are biopsied on the third day of development. However, by waiting these two or three additional days, the process is optimised, because the embryos that show a lower potential for implantation and, consequently, for achieving pregnancy, are immediately rejected,” explained Dr Fernández.

Since it was first set up, almost 30 years ago, IVI has reached various landmark achievements in curing genetic diseases, on three occasions with the help of genetic tests for HLA compatibility. In 2012, for example, thanks to PGT it assisted in curing Izan, an 11-year-old boy suffering from adrenoleukodystrophy, whose little sisters Noa and Leire were able to donate stem cells as a result of being genetically compatible.

At IVI, in a bid to incorporate the latest advances and technologies in our laboratories, we offer HLA-compatible genetic testing in all of our clinics, something that is in stark contrast with a study by the European Society of Human Reproduction and Embryology (ESHRE), which states that just 15% of its member centres offer this among their services.

VI Jornadas de Reproducción Asistida at IVI Sevilla

On Thursday 14 and Friday 15 November, the VI Jornadas de Reproducción Asistida were held in Seville. The aim of this training course on Assisted Reproduction, which brought together more than one hundred specialists, was to provide a global overview of the various techniques and the latest advances in the field of reproductive medicine. During the course, the most renowned experts in the field of reproduction reviewed the latest advances in genetics, immunology and embryology.

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