Perceptions, Experiences, and Meanings of Externally Visible Birth Defects: Insights from Mothers, Healthcare Workers, and Community Health Extension Workers in Uganda

Background Since 2015, a birth defects (BD) surveillance project has been implemented in Kampala, Uganda, aiming to establish a surveillance system, determine prevalence of BDs, and assess potential associations between maternal use of antiretroviral therapy and other common medications during early pregnancy. Prevalence of BDs in Uganda was found to be 66.2 per 10,000 births (95% CI: 60.5–72.5), hypospadias being the most common. Within this project, a qualitative sub-study was conducted from October 2022 to May 2023 to investigate perceptions, experiences, and meanings attached to major externally visible BDs. Methods The study involved 30 in-depth interviews with mothers of children born with BDs, 10 key informant interviews with healthcare workers, and four focus group discussions with 30 community health extension workers (CHEWs). Purposively selected participants were interviewed in either Luganda or English and audio-recordings transcribed, translated into English, and analyzed thematically using ATLAS.ti (version 9.1.3.0). Results The study identified several interrelated themes. Categories identified during thematic analysis of data were perceptions of externally visible BDs, participants’ experiences of having an infant with a BD, and meanings attached to BDs. Awareness, causes, and prevention of BDs varied across participant groups. Knowledge gaps were widespread among mothers and CHEWs, often attributed BDs to cultural, supernatural (divine punishment), or moral (parental wrong-doing) causes. Mothers experienced profound emotional and psychological distress, including sadness, guilt, and anxiety, following the birth of a child with a visible BD. Regarding families’ and healthcare workers’ experiences, the majority highlighted the emotional and psychological toll on families, eliciting distress, strained family relations, and economic hardship. The majority of CHEWs and some healthcare workers explicitly reported lack of knowledge of BDs and identified a lack of adequate training as a significant barrier. Lastly, the meanings attached to BDs from majority of participants revealed limited community acceptance and understanding, moral attributions, and experiences of stigma. Conclusions This study highlights a significant gap in awareness and understanding of externally visible BDs among mothers, and CHEWs. Families of affected children experience deep emotional, social, and economic hardships intensified by stigma. Enhanced education and support systems may help address these issues.