Detection of rare diseases in donors
With this test, we reduce the risk of the baby inheriting serious genetic diseases from the donor and the father.
Eugin was the first Assisted Reproduction Centre in Europe to apply a screening test for rare diseases to its donors in a systematic way.
Cystic Fibrosis, Muscular Dystrophy, Fragile X Syndrome and as many as 250 serious genetic diseases can be avoided in babies born by Assisted Reproduction. At Eugin, we do 10% of the egg donation treatments that are carried out in Europe.
This test, which is carried out by means of a blood sample, allows us to detect all egg donors that are carriers of a genetic disease of the 250 identified. Currently, most people are carriers of a genetic disease without knowing it: even though they are carriers, they will not develop the disease. In fact, 4 out of 100 couples run the risk of passing on one of these diseases to their children.
Serious genetic diseases, in the spotlight
“The inherited genetic diseases to which we refer have a serious prognosis and, in many cases, the child does not overcome them,” says Dr. Rita Vassena, our Scientific Director at Eugin Clinic. “Our goal is to have healthy children born through Assisted Reproduction.
In Spain, 1 out of every 100 babies suffers from a hereditary genetic disease. “These pathologies have a significant impact on the baby’s life expectancy and quality of life, and are a drama for the family,” she concludes.
How we detect rare diseases
In addition to seeking the greatest similarity between physical characteristics, a genetic match is also made between both donors (semen and egg donors in an IVF treatment with double donation), which consists of comparing the results of the genetic carrier screening studies that we carry out on all our donors.
These studies include more than 300 genetic recessive inheritance diseases or which are linked to the X chromosome and are aimed at preventing the offspring from developing any of the genetic diseases included in the genetic study.