The Assisted Reproduction Unit of the Quirón Barcelona Hospital and Reprogenetics have announced that the first pregnancy has been achieved in Spain that, through Preimplantation Genetic Diagnosis, has detected and avoided the muscular facio-scapulo-humeral dystrophy
Using the Preimplantation Genetic Diagnosis (PGD), genetic and chromosomal abnormalities can be detected in the embryo, before transferring it to the mother's womb.
The muscular facio-scapulo-humeral dystrophy It is included between 5000 and 7000 rare diseases described. This hereditary genetic pathology affects 1 in 20,000 people and is the third most common form of myopathy, muscle degeneration. It is characterized by a progressive muscle weakness that affects the muscles of the face, shoulders and arms.
Reprogenetics has developed the DGP technique to detect the gene alteration responsible for the facio-scapulo-humeral muscular dystrophy and subsequently be able to apply it to the embryos generated by in vitro fertilization, in order to be able to differentiate the affected embryos from said disease from the normal ones. and transfer to the mother's womb only those genetically free embryos.
The pregnant woman, patient of Hospital Quirón Barcelona, is currently in the 22nd week of gestation, and both she and the fetus are in perfect condition. The probable date of delivery will be at the end of March 2010.
Again, these new techniques for detecting genetic malformations can help parents avoid inherited diseases to their children.
As always, there are opinions for and against these processes, but surely for the worried parents of children who may suffer from them, it is important news. Thanks to this new technique the hereditary facio-scapulo-humeral muscular dystrophy It can be prevented.
