EPIDEMIOLOGICAL PROFILE OF HOLOPROSENCEPHALY IN BRAZIL (2007–2024): AN ECOLOGICAL STUDY BASED ON SINASC/DATASUS

Abstract

Holoprosencephaly is a congenital brain anomaly characterized by the failure of the brain to divide into distinct hemispheres during the early weeks of gestation, potentially leading to cerebral and facial defects. Despite its clinical relevance, epidemiological data in Brazil remain limited. This study aimed to describe the epidemiological profile of holoprosencephaly in Brazil, considering year of birth, maternal age group, and geographic distribution.This is a retrospective ecological study using data from SINASC/DATASUS, including live births diagnosed with holoprosencephaly (ICD-10: Q04.2) from 2007 to 2024. The analyzed variables were year of birth, maternal age, and region of residence, using descriptive statistics. A total of 193 cases were identified, with no records between 2007 and 2009 and occurrences starting in 2010. Temporal variation was observed, with higher concentration in intermediate years and a reduction in recent years. The highest frequency occurred among mothers aged 20–34 years, followed by 15–19 and 35–39 years, with lower frequency among those aged 40–44 years. The Southeast region had the highest number of cases, followed by the Northeast and South. In conclusion, holoprosencephaly showed a heterogeneous distribution in Brazil, with possible underreporting. The findings highlight the need to improve data recording and strengthen epidemiological surveillance.