Medicogenetic examination of married couples included into assisted reproductive technology programs

The purpose of the investigation was to study the specific features of the genotype of the married couples included into the assisted reproductive technology (ART) program. Malformations, monogenic diseases, and heterozygous carriage of mutant genes were found in 177 (9.3%) of 1898 patients. By taking into account chromosome changes in peripheral lymphocytes, the rate of genetic changes in the patients involved in the ART program increased up to 12.8%.
Heterozygous carriage of CYP21B gene mutation was found in 41 (38%) of 108 patients.
Of all the detected mutations in the men and women of both groups, the rates of CYP21B gene deletion and duplication were 70.7 and 24.4%, respectively. Mutations of CFTR genes at the AZF locus of chromosome Y in males having abnormal spermogram readings were found in 12.9% of cases. The total rate of 5T allele was 40.5% of the revealed CFTR gene changes. F508del mutation was the second most frequent type. Del sY1192 was the most common microdeletion at the AZF locus of chromosome Y.
Medicogenetic counseling with the interpretation of transmitted information may permit timely measures to prevent the birth of a baby with genetic disorders.

CFTR, AZF, CYP21B, in vitro fertilization, karyotype, CFTR, AZF, CYP21B