CHARACTERIZATION OF CHROMOSOMAL ABERRATIONS IN CYTOGENETIC PRENATAL DIAGNOSIS

https://doi.org/10.56274/rcs.2024.3.2.44

Abstract

Rationale: Chromosomal alterations have a clinical and social impact, since they entail a high degree of comorbidity, but with early diagnosis and appropriate counseling, the living conditions of both the affected person and his/her family could be better. Objective: To characterize the presentation of chromosomal aberrations in cytogenetic prenatal diagnosis in the province of Camagüey. Method: A cross-sectional descriptive study was carried out in the 13 municipalities in the period from January 2014 to December 2023. The universe consisted of 126 pregnant women with positive cytogenetic prenatal diagnosis of chromosomal aberration; data were obtained from the records of the provincial cytogenetic laboratory and the municipal genetic centers. A data collection notebook was prepared which constituted the definitive registry. Descriptive measures were carried out by means of correspondence tables to reflect the data obtained. Results: Camagüey was the municipality that contributed the most cases with 12 structural aberrations for 9.5% and 29 numerical aberrations, representing 24.0%. Trisomy 21 was the most frequent with 51 cases for 40.4 %; advanced maternal age was the major risk factor with 100 women, representing 79.4 %. Conclusions: The municipality of Camagüey presented more chromosomal aberrations, with a predominance of numerical ones, highlighting Down syndrome; pregnant women with advanced maternal age were the most incident. De novo cases predominated over inherited cases.