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

Background: Down syndrome (DS) is the most common chromosomal disorder and the leading genetic cause of intellectual disability worldwide. Congenital heart defects (CHDs) are among the most frequent and serious complications in children with DS, affecting nearly half of them and contributing substantially to early morbidity and mortality. Early detection is crucial, as timely diagnosis and management significantly improve survival and developmental outcomes.

 

Although echocardiographic screening for CHDs within the first six weeks of life is strongly recommended, many children in low- and middle-income countries, including Rwanda, experience delays or remain unscreened. Globally, limited research has explored the determinants of CHD screening uptake among children with DS, and to the best of our knowledge, no such study has previously been conducted in Rwanda.

This knowledge gap constrains the development of tailored and evidence-based interventions. Therefore, this study sought to explore the determinants of CHD screening uptake among children with DS in Rwanda to inform strategies that enhance early screening and improve health outcomes.

Approach: A descriptive qualitative study was conducted in four hospitals across Rwanda, including two referral hospitals offering specialized cardiac and genetic care and two district hospitals partnering with a non-governmental organization supporting children with DS. Data were collected through four focus group discussions with 40 community health workers and 21 in-depth interviews with 12 nurses and 9 parents of children with DS.

 

 Purposive sampling ensured the inclusion of participants with relevant experience in DS care and community health. All discussions and interviews were audio-recorded, transcribed verbatim, and analyzed inductively using thematic analysis supported by ATLAS.ti version 22 software. Trustworthiness of the findings was strengthened through data triangulation, member checking, and peer debriefing.

 

 

Results: Two major themes emerged: (1) Key drivers of parental decision-making, and (2) Barriers to screening uptake. Drivers included heightened parental concern about developmental delays, encouragement and clear guidance from healthcare providers, and motivation from peer and community support networks. Barriers were multifactorial and included low parental awareness and health literacy, cultural and religious beliefs, family conflicts, stigma, and financial constraints. Health system challenges such as limited cardiology specialists, inadequate diagnostic facilities, and insufficient provider knowledge about DS-related cardiac screening further hindered uptake.

 

Implications: These findings highlight critical parental, cultural, and health system factors affecting CHD screening among children with DS in Rwanda. Addressing these barriers through targeted community sensitization, enhanced healthcare provider training, and strengthened diagnostic capacity could increase early screening and timely management. The study also contributes evidence to guide policy formulation, inform context-specific interventions, and support the design of strategies that improve survival, developmental outcomes, and quality of care for children with DS in similar low-resource settings.