Background
Individuals with Down syndrome are inherently predisposed to congenital anomalies due to a susceptible genotype that may interact with environmental factors. High-altitude exposure, in particular, has been linked to an increased risk of congenital heart disease. However, few studies have explored environmental risk factors for congenital anomalies in this population, and the specific impact of high altitude remains under-investigated. This study aimed to evaluate maternal and environmental risk factors, including high-altitude residence, on the prevalence of congenital anomalies in newborns with Down syndrome.
Methods
We conducted a cross-sectional study at two specialized genetic centers in Bolivia, including patients referred from various regions of the country. Data on clinical history and habitual residence were extracted from medical records to identify potential risk factors. The primary outcome was the presence of major congenital anomalies. Univariate and multivariate logistic regression analyses were performed to assess the association between risk factors and congenital anomalies.
Results
A total of 301 Down syndrome cases were included, of which 182 (60.5 %) presented with major congenital anomalies, with congenital heart disease and gastrointestinal anomalies being the most prevalent. Maternal age, high-altitude exposure, preeclampsia, and consanguinity were significantly associated with an increased risk of congenital anomalies (all p < 0.05). Furthermore, stratified analysis revealed that high altitude was a significant risk factor for specific anomalies: patent ductus arteriosus (OR: 5.82, 95 % CI: [1.68–36.65], p = 0.02) and anorectal anomalies (OR: 5.29, 95 % CI: [1.52–33.45], p = 0.03).
Conclusion
Our findings indicate that both maternal and environmental factors, particularly high-altitude exposure, play a crucial role in the development of congenital anomalies in newborns with Down syndrome. These results underscore the need for enhanced surveillance and tailored clinical management in high-risk populations, as well as further research into preventive strategies to mitigate these risks.