A team of doctors from Madrid has achieved the birth of thefirst male free of severe combined immunodeficiency, a rare disease also known as“bubble boy syndrome”that affects one in every 100,000 children. The medical milestone has been possible thanks to pre-implantation genetic diagnosis (PGD) before in vitro fertilization. This disease is due to aX-linked disorderthat causes an intense alteration in the immune system and that can end with the death of children before 2 years of age, mainly due to infections.
Until now, doctors had only been able to select embryos in the ‘in vitro’ fertilization laboratory by sex, since the disease is transmitted by girls and suffered by 25 percent of boys, with the other 25 percent of healthy males. On this occasion, however, the experts from the Jiménez Díaz Foundation used the technique known as Polymerase Chain Reaction, capable of amplifying a single copy of DNA millions of times, allowing its study in a single embryo cell. With this DGP technique, the embryos are diagnosed before reaching the mother’s uterus.
Together, the Assisted Reproduction Unit and the Genetics Service of the Jiménez Díaz Foundation had already achieved numerous births that liberate families carrying serious communicable diseases, this being the first case of a genetically selected male not to suffer from it. pathology. Until recently, the only early diagnosis that could be made before birth was through prenatal diagnosis in the first weeks of gestation, which represented a problem for parents when making decisions regarding the continuation of the pregnancy.
The only possible treatment for the syndrome today, once the child is born, is a bone marrow transplant from another compatible individual.
