Determinants of Congenital Heart Defects Screening Among Children with Down Syndrome in Rwanda: A Qualitative Study

Background Down syndrome (DS) is the most common genetic cause of intellectual disability worldwide, and its associated congenital heart defects (CHDs) are among the most prevalent and serious complications. Although screening for CHDs in children with DS is recommended within the first six weeks of life, many children experience delays or are not screened at all. Globally, research on the determinants of CHD screening uptake among children with DS is scarce, and to the best of our knowledge, no such study was previously conducted in Rwanda. This knowledge gap limits the development of targeted interventions, highlighting the need to explore the determinants of CHD screening uptake among children with DS in Rwanda. Methods A descriptive qualitative study was conducted in four Rwandan hospitals: two referral hospitals providing specialized genetic and cardiac care services, and two district hospitals collaborating with a non-governmental organization that supports children with DS. Data were collected through four focus group discussions with 40 community health workers and individual in-depth interviews with 12 nurses and 9 parents, all recruited using purposive sampling. Inductive thematic analysis was conducted using ATLAS.ti version 22 software. Findings: Two main themes emerged from the interviews: (1) key drivers of parental decision making, including developmental concerns, guidance from healthcare providers, and peer support; and (2) barriers to screening uptake, such as limited parenteral awareness and health literacy, cultural beliefs, family conflicts, stigma, financial constraints, shortage of cardiologists, and insufficient knowledge among healthcare providers. Conclusion The study identifies key areas for intervention to enhance CHD screening uptake among children with DS in Rwanda. Addressing the identified barriers through targeted community education, health system strengthening, and provider training may contribute to earlier diagnosis and improved health outcomes for these children.