Introduction:

cytogenetic study in peripheral blood lymphocytes is a widely used tool for the diagnosis of different chromosomal pathologies of genetic origin in patients with reproductive failure.

Objective:

to describe the results of postnatal cytogenetic diagnosis in patients with reproductive failure.

Methods:

a descriptive, retrospective study was carried out in Pinar del Río province from January 2015 to December 2020, based on the results of chromosomal diagnosis in peripheral blood in patients who were referred to the provincial center of medical genetics for reproductive failures, which were classified into 3 groups according to the indication criteria.

Results:

in the analyzed period, 12 cases with chromosomal anomalies were diagnosed, where 58,3 % corresponded to numerical chromosomal aneuploidies, 25 % to chromosomal mosaics and 17 % to structural chromosomal aberrations. It should be pointed out that 9 % of the diagnosed cases presented polymorphic variants, especially of chromosome-9. Spontaneous abortion was the most frequent reason for indication for cytogenetic study.

Conclusions:

the importance of cytogenetic study in peripheral blood is relevant in people with reproductive failure, in order to establish an accurate and timely diagnosis and to provide genetic counseling with etiological elements for the future reproductive options of these couples.

        · resumen en Español     · texto en Español     · Español ( pdf )