Keywords
Prevalence
Morbidity
Mortality Registries
Brazil
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Abstract
Objective: To describe the epidemiological profile of chromosomal abnormalities in Brazil, considering prevalence, morbidity, and mortality between 2008 and 2024. Methods: A quantitative, ecological, observational, and descriptive study was conducted using secondary data obtained from the public databases DATASUS, SIH/SUS, SIM, and IBGE. Hospitalizations, deaths, and population estimates related to chromosomal abnormalities classified in Chapter XVII of ICD-10 were analyzed. Prevalence, morbidity, and mortality rates were calculated for each Brazilian region. Results: The South region presented the highest prevalence (0.05%) and morbidity (0.047%) rates, as well as the lowest mortality rate (10.8%). In contrast, the North region showed the lowest prevalence (0.03%) and morbidity (0.027%) rates but the highest mortality rate (21.37%). The Southeast, Midwest, and Northeast regions showed intermediate values, with notable fluctuations throughout the study period, especially in 2020, coinciding with the COVID-19 pandemic. Down syndrome was the most prevalent chromosomal abnormality, followed by Edwards, Klinefelter, and Turner syndromes. Conclusion: Chromosomal abnormalities showed a heterogeneous distribution across Brazilian regions. The higher mortality observed in the North region, despite its lower prevalence and morbidity rates, highlights regional inequalities and reinforces the need for strengthened epidemiological surveillance, early diagnosis, and specialized healthcare.
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