Chromosomal Analysis in a Population Sample of Patients with Reproductive Problems of the Province of Misiones (1990-2019)

In Argentina, the rights of every person to motherhood, paternity, and reproductive health care, as part of human rights, is recognized by the National Constitution, international treaties and new laws, among which the most notable are: Law 25,673 on Sexual Health and Responsible Procreation and the National Law on Assisted Human Fertilization 26,862, enacted in Argentina in 2013. The latter law “aims to guarantee comprehensive access to medical care procedures and techniques for medically assisted reproduction” to all older people with reproductive problems. Although the passage of this law was important for a particular group of the population, it is also necessary to recognize that people can access the health system for a variety of situations related to reproductive health. To achieve this, it is important that the teams are prepared to assess each particular situation so that a timely response and attention can be given. In Reproductive Medicine, cytogenetics provides valuable information about the Chromosomal Genetic Factor, and the study of frequencies of chromosomal anomalies not only helps to improve the approach to reproductive problems, but also to propose new lines in the health system, which contributes to this improvement. The present study determined the frequencies of chromosomal anomalies in patients with reproductive problems or associated disorders that were referred to the UNaM-IPS Cytogenetics and Human Genetics Laboratory, over a period of 29 years (1990 to 2019) in the Province of Misiones, Argentina. A cross-sectional study was carried out with retrospective data collection, in 1231 patients referred from different Health Centers of the Province and medical offices, affiliated with the Social Security Institute, where the human cytogenetics service is provided. In addition, patient samples were analyzed during the period 2015 to 2019. Chromosome preparations were obtained by culturing lymphocytes in peripheral blood using the GTG Banding technique for the analysis of the entire chromosome complement. The C and NORs banding served to confirm and/or rule out polymorphic variants. The statistical data obtained showed that 3.49% (n=43) of the karyotypes presented chromosomal abnormalities, 95.46% (n=1175) were normal karyotypes and only 1% (n=13) of the cases, the karyotype could not be determined. Among the karyotypes with chromosomopathies, 55.81% (n=24) presented structural anomalies, while mosaics (structural and/or numerical) were