Congenital Heart Defect Screening Among Children with Down Syndrome in Rwanda: A Cross-Sectional Study

Congenital heart defects affect over half of children with Down syndrome. Screening is recommended within the first six weeks of life to enable timely management and improve survival. Despite this, congenital heart defect screening remains low and often delayed.

This study aimed to assess the uptake of congenital heart defect screening and its associated factors among children with Down syndrome in Rwanda.

This quantitative cross-sectional study was conducted from February to May 2025. A total of 313 participants were recruited using convenience sampling. The study was conducted in four hospitals and the Rwanda Down Syndrome Organization. Data were collected using a newly developed structured questionnaire that was pilot tested prior to the main data collection. Ethical approval and informed consent were obtained. Descriptive statistics summarized congenital heart defect screening uptake, while multivariable logistic regression was used to identify factors associated with screening uptake.

Among 313 children with Down syndrome, 159 (51%) had undergone congenital heart defect screening. Among those screened, 45 (28%) were screened within the recommended first 6 weeks after birth. In the multivariable logistic regression analysis, place of residence was significantly associated with congenital heart defect screening uptake, with higher odds of screening among children in urban areas compared with those in rural areas (AOR = 2.17; 95% CI: 1.29-3.68; p = 0.004).

Congenital heart defect screening among children with Down syndrome remains suboptimal, with delayed screening commonly observed. Urban residence is associated with higher screening uptake in the adjusted model. Targeted interventions are needed to improve timely screening, particularly addressing barriers in rural settings.