Параметры спермограммы и генетические аномалии

Abstract

The prevalence of genetic abnormalities in men with infertility is 5.8% (n = 9766), of which 4.2% are sex chromosome abnormalities and 1.5% are autosomal abnormalities. In the Russian Federation, this indicator varies from 4.72% (n = 539) (Novosibirsk) to 10.78% (n = 204) (St. Petersburg, the Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott) — the percentage of detectability probably depends on the concentration of patients in specialized institutions. Given the high frequency of genetic abnormalities in infertile men, it is necessary to correctly select diagnostic methods in accordance with the specifi c clinical situation. When the concentration of spermatozoa decreases to less than 10 million/ml, karyotyping is recommended; at a concentration of less than 5 million/ml, the search for AZF deletions is necessary; in severe disorders of spermatogenesis — the detection of mutations in the cystic fibrosis gene (CFTR). To confirm genetically determined asthenozoospermia, the electron microscopy of spermatozoa is required. Taking into account the development of assisted reproductive technologies, including the active use of intracytoplasmic sperm injection and the relationship of sperm pathology with severe genetically determined diseases, it is necessary to inform potential parents what risks to the health of future children the use of such material carries.