Infertility is a problem that, in Spain alone, affects up to 20% of couples, and in many cases can be linked to chromosomal alterations.
Thus, as Javier Porta, director of Genoclinics - a company specialized in the genetic diagnosis for the prevention of diseases and that also allows to optimize the treatments according to the personal characteristics of the patient - explains, couples that suffer from fertility problems have a greater probability of presenting chromosomal alterations, which are the origin of their difficulties to conceive or for the pregnancy to come to fruition.
Couples with fertility problems are more likely to suffer chromosomal abnormalities, which are the source of their difficulties to conceive or for the pregnancy to come to fruition
The expert points out that while in the case of men it can be about alterations in the karyotype -Microdelecciones Y-chromosome, or cystic fibrosis, which can also cause serious fertility problems due to lack of sperm (azoospermia), in women infertility is genetically associated with alterations in the karyotype, with the X-fragile syndrome and with hereditary thrombophilias. These disorders can cause them to suffer repeat abortions or have a poor ovarian reserve.
Therefore, continues the specialist, in couples who need to undergo techniques of assisted reproduction, the karyotype is a very important diagnostic test, which is indicated especially when there is seminal alteration, or ovarian failure, or in those couples who have suffered failures. implantation or several abortions. In these cases it is convenient to carry out genetic tests, which analyze the CFTR gene, with the aim of identifying mutations that may be the origin of infertility problems.