Detecting genetic mutations in order to minimise the risk of our offspring developing recessive diseases is the aim of the innovative carrier test offered by the Specialised Genetic Counselling Unit of the HLA Vistahermosa Fertility Centre.
To this end, 15 genes are analysed for 16 pathologies that are transmitted when both members of the couple are carriers of the mutation in the same gene, such as cystic fibrosis, non-symptomatic congenital deafness or spinal muscular atrophy.
This test represents an important advance in reproductive genetics. To avoid both male and female gametes having the same genetic alteration, the test is applied to both donor and recipient, and if both gametes, eggs and sperm, are from the donor, both are studied.
The research, which has been published in the journal “Genética Médica y Genómica”, shows the results of the implementation of this test in a population of 523 gamete donor candidates, of which approximately 80% were women and 20% men. To this end, 15 genes associated with 16 autosomal recessive diseases most prevalent in our environment were selected, following the recommendations of scientific societies.
After the study, the team determined that 20.3% of the population studied carried at least one pathogenic or probably pathogenic mutation. This means that when both members of a couple are carriers of the same recessive pathology, they have a 25% risk of having an affected child at each gestation.
