Genetic diagnosis in the treatment of infertility
Genetic diagnosis during infertility treatment will allow you not only to find out the causes of infertility, but also to increase the chance of pregnancy, and of having a healthy baby. Genetic testing in infertility treatment aims to find out whether the reasons for the lack of pregnancy are related to changes in the genetic material in one or both partners.
When to perform a genetic diagnosis?
Indications for genetic diagnosis of both parents and their embryos include primary amenorrhoea in women, POF (premature ovarian failure), habitual (recurrent) miscarriages and, in men, severe oligozoospermia, azoospermia or carriage of genetic diseases.
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The CFTR gene
Mutations in the CFTR gene contribute to the development of cystic fibrosis and some forms of infertility in men, such as obstructive azoospermia (obstruction of the sperm ducts, or bilateral absence of sperm). The CFTR gene mutation in women can cause menstrual disorders (secondary amenorrhoea), as well as the secretion of excessively thick mucus in the cervix, resulting in impaired migration of sperm during their journey to the egg.
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AZF region
The presence of a microdeletion in the AZF region of the Y chromosome causes dysfunction in the proteins responsible for the normal production of male gametes and is one of the genetic factors in the development of male infertility. Genetic testing for microdeletions in the AZF region helps determine whether the cause of male infertility is related to this defect. It is recommended for men when a semen test reveals extreme oligozoospermia, cryptozoospermia or azoospermia. Further treatment of the couple's infertility will also depend on the outcome of the test.