STUDIES IN MALES
Genetic studies in men who present an abnormal seminogram will help us to determine genetic alterations as a cause of their sterility.
- MICRODELETIONS OF THE CHROMOSOME
When faced with a severe azoospermia or oligospermia, this male may carry a microdeletion of the Y chromosome region, known as AZF.
The genetic study will allow us to reevaluate the indication of testicular biopsy.
- SPERM CELLS FISH
In some occasions the male may have a normal chromosomal endowment and have a germinal anomaly, that is to say, an alteration in the meiosis producing gametes with elevated chromosomal alteration, which causes greater difficulty for the fertilization of the egg, thus decreasing the success rates of Assisted Reproduction Therapies.
The sperm cells FISH or in situ hybridization allows us to know the chromosomal endowment of the sperm cells, and assess the presence of aneuploidies and diploids in the sperm cells at the interface stage.
This study will allow us to suggest alternatives for the couple to achieve pregnancy and increase their success rates, for example, to carry out a preimplantation genetic test of chromosomal abnormalities or PGT-A.
- CFTR GENE MUTATIONS OF CYSTIC FIBROSIS
In cystic fibrosis, the male presents an agenesis of the bilateral or unilateral vas deferens. The study of the CFTR gene mutations makes it possible to detect if the male is a CFTR gene carrier.
If the male is a CFTR gene carrier, it is necessary to study the gene in the couple, since the offspring would be at risk both of inheriting the Agenesis of the vas deferens and of suffering some clinical manifestation of Cystic Fibrosis.
STUDIES ON WOMEN UNDERGOING ART
- THROMBOGENIC FACTORS STUDY
These should be performed on all women with a history of repeated miscarriages. Thrombogenic factors are the cause of thromboembolisms, which if occurring in the placenta, it will cause abortions at an early gestational age.
Thrombogenic factors include Leiden factor V, the G20210A prothrombin mutation or factor II, the C677T mutation of the MTHFR gene, and the C46T mutation of factor XII.
- FSH (FSHR) RECEPTOR GENE
The genetic study of the FSH receptor gene, in particular polymorphism or SNP N680S, has shown some predictive power on ovarian response. It can be useful when programming a medication for the stimulation of patients and thus estimating the response.
