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

Perceptions, Experiences, and Meanings of Externally Visible Birth Defects: Insights from Mothers, Healthcare Workers, and Community Health Extension Workers in Uganda | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Perceptions, Experiences, and Meanings of Externally Visible Birth Defects: Insights from Mothers, Healthcare Workers, and Community Health Extension Workers in Uganda Joyce Namale-Matovu, Juliane Etima, Joseph Ggita, Kenneth Mwambi, and 14 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7399327/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 7 You are reading this latest preprint version Abstract 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. Birth defects Mothers healthcare workers Community health extension workers Introduction Each year, an estimated eight million babies (6% of births worldwide) are born with birth defects (BDs), resulting in thousands of associated deaths, with prevalence varying from region to region (1). Since 2015, Makerere University–Johns Hopkins University Research Collaboration (MU-JHU) in Kampala, Uganda has operated a BD surveillance project. The objective is to determine BD prevalence and identify associations between maternal use of antiretroviral therapy (ART) to treat HIV infection and common medicines in early pregnancy with the occurrence of BDs. Initial findings from the surveillance showed that the overall prevalence of major external BD was 66.2/10,000 births (95% CI: 60.5–72.5), with the most prevalent being hypospadias (2). In this surveillance project, surveillance midwives provide counselling support to mothers and their partners, whose newborns were diagnosed with a BD (3). Despite this initial counselling support, there is lack of extensive documentation on mother’s experience regarding delivering a baby with an externally visible BD, and yet, this is an important and under-studied aspect. Available research shows that parents have varying perceptions and experiences regarding external BDs in their affected newborns, including cultural taboos (4). At health facilities, healthcare workers are often the first to identify and manage BDs. They can play a critical role in supporting mothers and families with affected newborns (3). However, healthcare workers in Uganda encounter significant challenges in managing birth defects, including limited resources, insufficient training, and systemic issues (5). Additionally, there is a lack of data regarding their experiences with BDs. Understanding the experiences of healthcare workers could offer valuable insights into their perspectives on external BDs, potentially helping to address knowledge gaps and guide the development of tailored interventions for these conditions. After discharge from health facilities, babies with BDs stay with their families in their respective communities. Currently, although organizations that offer community-based services and support for babies/children with BDs like Mildmay hospital and Comprehensive Rehabilitation Services for People with Disability in Uganda (CoRSU) are available, but what happens to such babies with BDs after discharge remains unclear, prompting us to seek an understanding of community perspectives on externally visible BDs in Uganda. Hence, a qualitative sub-study was conducted to explore perceptions, experiences, and meanings attached to externally visible BDs from mothers, healthcare workers, and community health extension workers (CHEWs) involved in care. These insights could inform the design of targeted interventions, policies, and programs aimed at improving care and outcomes for children with BDs and their families. Materials and Methods Study design This study employed a cross-sectional qualitative design utilizing in-depth interviews (IDIs), key informant interviews (KIIs), and focus group discussions (FGDs) as data collection methods. The study was conducted between October 2022 through May 2023 in four hospitals within Kampala, Uganda. These included Mulago National Referral Hospital - a government/public facility - and three faith-based hospitals namely Mengo, Lubaga, and St. Francis Nsambya Hospitals. These hospitals have been sites for the BD surveillance project since 2015. Study population and recruitment From the outset, a specific number of participants to recruit was agreed, including mothers, healthcare workers and CHEWs. Once these targets were reached, recruitment was halted. The recruitment process was designed to ensure the inclusion of relevant and willing participants. Thirty mothers whose infants were diagnosed with externally visible BDs of interest to the study were purposively selected for IDIs based on predefined inclusion criteria. The externally visible BDs of interest were anencephaly, craniorachischisis, iniencephaly, encephalocele, spina bifida, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate only, cleft lip only, cleft lip with cleft palate, imperforate anus, hypospadias (for males), talipes equinovarus/clubfoot, limb reduction deficiencies, gastroschisis, and omphalocele. Mothers were eligible to participate if they were 18 years or older, delivered at one of the four study hospitals, and provided informed consent to participate. At each study hospital, the nurse coordinator or designated focal person verbally assessed eligible participants' willingness to join the study and recorded their information in the IDI recruitment tracker form for follow-up by the study research assistant within three months postpartum. Those who had expressed their willingness were contacted by phone and invited to attend scheduled individual interviews at MU-JHU. On the interview date, the research assistant obtained written informed consent from each participant before conducting the interviews Healthcare workers (doctors, surveillance officers, and hospital nurses/midwives from participating study hospitals) were purposively selected to participate in KIIs based on predefined criteria. Selection criteria required healthcare workers to have been involved in the care of infants with BDs for at least two years and to provide a written informed consent prior to their participation in the study. The hospital liaison coordinator in collaboration with the nurse coordinator or focal person identified healthcare workers from each hospital to be contacted by the study research assistant. The CHEWs were purposively selected for FGDs from communities they served based on predefined criteria. To understand community dynamics and the types of support CHEWs provided to families, local leaders were involved in the selection process. The participants of each FGD included one or two CHEWs from each of the five divisions of Kampala. The office of local council 3 chairperson of each Kampala division participated in the selection process. The phone contacts of those willing to participate were registered by the research assistant. These were later contacted and invited to participate in the FGDs, after providing a written informed consent. Data Collection Prior to data collection, study staff underwent training on the sub-study aims, procedures, interview techniques, and data collection tools. The training was facilitated by qualitative research experts and included both didactic and practical sessions. Data quality was ensured by designated study staff who reviewed all required data fields in real time allowing for immediate corrective actions and to confirm completeness. A written informed consent was obtained prior to conducting any participant interview and the IDI English consent form is available (Appendix A). IDIs were conducted in Luganda or English using a guide with an English version available (Appendix B). KIIs were conducted using an English guide (Appendix C). Four FGDs, each consisting of six to eight CHEWs, were facilitated using a Luganda-based FGD guide, with an English version also available (Appendix D). Interviews and discussions were conducted by a trained facilitator with a non-participant observer serving as a note-taker. Visual aids including BD reference images were provided to participants for clarity. All sessions were audio-recorded following written informed consent and permission to record the session. Audio recordings were transcribed, translated into English, and quality-assured through proofreading and verification. The verified transcripts were uploaded into ATLAS.ti version 9.1.3.0 software for systematic coding, data management, and analysis. Data Analysis Descriptive statistics were employed to summarize participant characteristics. A thematic analysis approach was utilized to generate in-depth insights from the qualitative data. Transcripts were initially subjected to a systematic, multi-level coding process comprising first-order (codes), second-order sub codes (child codes), and third-order (grandchild codes) subcategories. Emerging themes were inductively derived through an iterative analytical process. To enhance methodological rigor and ensure consistency in interpretation, the research team engaged in regular collaborative meetings to refine the coding framework, revise the codebook, and reach consensus on the final thematic structure. Representative participant quotations were selected to illustrate and substantiate each identified themes/finding. Results Participant characteristics A total of 30 mothers were recruited with median (interquartile range [IQR]) age of 27 (22–31) years. Seventeen (56.7%) had attained secondary level education, 15 (50.0%) were employed, and 28 (93.3%) were married (Table 1 ). Table 1 Demographic characteristics of mothers who participated in in-depth interviews Characteristic n (%) (n = 30) Age (years) <30 19 (63.3) ≥30 11 (36.7) Education level Primary 7 (23. 3) Secondary 17 (56.7) Post-secondary 6 (20.0) Employed No 15 (50.0) Yes 15 (50.0) Marital status Married 28 (93.3) Single 2 (6.7) Table 1 : Demographic characteristics of mothers who participated in in-depth interviews Ten KIIs were conducted among 2 (20%) physicians/consultants, 5 (50%) faith-based hospital surveillance midwives, 1 (10%) government/public facility midwife, and 2 (20%) independent MU-JHU surveillance midwives. The study recruited 30 CHEWs with median (IQR) 40 (32–52), to engage in FGDs with 15 (50.0%) over 30 years of age; 15 (50.0%) female, 19 (63.3%) married, and 16 (53.3%) had attained secondary level education (Table 2 ). Table 2 Demographic characteristics of community health extension workers who participated in focus group discussions Characteristic n (%) (n = 30) Age <40 15 (50.0) ≥40 15 (50.0) Sex Female 15 (50.0) Male 15 (50.0) Education level Primary 3 (10.0) Secondary 16 (53.3) Post-secondary 11 (36.7) Marital status Single 9 (30.0) Married 19 (63.3) Cohabiting 1 (3.3) Widowed 1 (3.3) Table 2 : Demographic characteristics of community health extension workers who participated in focus group discussions Table 3 presents a detailed summary of the key findings, including categories, codes, and specific examples. Table 3 Categories, Codes, Child codes, and Grandchild codes on externally visible birth defects (BDs) Category First-order codes Second-order sub codes (child codes) Third-order (grandchild codes) Perceptions about externally visible BDs Awareness of BDs, Causes, and Prevention Knowledge gaps among participants Perceived causes of BDs Hereditary Lifestyle factors Alcohol Smoking Poor nutrition Supernatural beliefs Witchcraft Curses Environmental and situational factors Earthquakes Medications Medical causes Family planning methods COVID-19 vaccination Delays in antenatal clinic Perceived prevention Folic acid supplementation Knowledge gaps Experiences of Families, and Healthcare Workers Emotional challenges Shock Sadness Isolation Financial strain Increased healthcare costs Debts Social challenges Stigma Exclusion Hiding children Relational challenges Strained partner relationships Support needs Financial assistance Accessible specialized care Public education Meanings attached to BDs Cultural and spiritual beliefs BDs linked to supernatural causes Witchcraft God's plan Stressful pregnancies as triggers for supernatural retribution Co-wife disputes/conflicts seen as causes of supernatural effects Role of herbal medicine Skepticism regarding herbal remedies Risks from lack of regulation Advocacy for research on safety and efficacy of herbal medicine Careful use of herbal medicine emphasized by mothers Preventive measures Avoidance of herbal and unprescribed medications Importance of early pregnancy scans Maintaining stress-free pregnancies Table 3 : Categories, Codes, Child codes, and Grandchild codes on externally visible birth defects (BDs) Perceptions about BDs 1. Perceptions of Externally Visible Birth Defects 1.1 Awareness and Understanding of BDs Awareness of externally visible BDs varied across participant groups. While healthcare workers demonstrated relatively more knowledge, significant gaps in awareness and understanding were reported among mothers and CHEWs. Many mothers only became aware of BDs after giving birth to an affected child, with limited prior information from antenatal services. A CHEW reflected: “Most people in the community, including myself before training, thought birth defects were just accidents or rare punishments. We don’t learn about them unless we see them.” (CHEW) A mother similarly expressed: “I had never heard of such a thing before I gave birth. When the nurse explained it, I was shocked and confused.” (M1) 1.2 Perceived Causes of BDs Participants described multiple, and often overlapping, explanations for BDs, encompassing biomedical, behavioral, environmental, and spiritual beliefs. Hereditary and lifestyle factors—such as alcohol consumption, smoking, poor nutrition, and herbal medicine—were frequently cited. Knowledge gaps about causes of BDs were noted among majority of mothers and CHEWs. Some mothers and CHEWs believed that BDs resulted from neglecting antenatal care or using family planning methods. “Some women use herbs when pregnant, and nobody checks if they are safe. That could be the reason defects come.” (M3) “Most of the women are now using family planning. This family planning is affecting most of their pregnancies.” (CHEW) “We see more cases during certain seasons, maybe because people eat different foods or get exposed to new things like chemicals.” (CHEW) Supernatural and moral explanations were also widespread. BDs were often attributed to witchcraft, curses, divine punishment, or maternal misdeeds. These beliefs contributed to stigmatizing attitudes toward affected children and their mothers. A participant commented, “We have to accept that some of the birth defects are created by God.” (M7) “In our village, they say if you wrong someone, like a co-wife, she might bewitch you, and your baby will be born that way.” (M2) “Some think it is God's plan or a curse for something the mother did before marriage.” (HCW2) Participants also reported that having multiple partners during pregnancy as another contributing factor to the causes of BDs as explained below. “Communities think that. Mothers who bear babies with birth defects have an extra affair during their pregnancy.” (CHEW) COVID-19 vaccination was also attributed to some of the causes of BDs among participants. “The other thing I thought about, maybe these were caused by the vaccination that we had, because I got vaccinated when I was pregnant, I did not know that I was pregnant and I went and had a COVID-19 vaccine. So, I keep thinking that maybe it also caused this situation.” (M21) 1.3 Perceptions of Prevention Preventive measures were rarely mentioned, and when they were, knowledge was fragmented. A few healthcare workers cited folic acid supplementation and early antenatal care as important, but these practices were not widely understood or accessed by mothers. “We tell mothers to take folic acid, but many don’t know why. Some think it's just another vitamin.” (HCW1) 2. Experiences of Families Healthcare Workers and CHEWs While exploring participants’ experiences, an important theme emerged highlighting significant emotional, financial, and social challenges faced by families caring for children born with BDs. 2.1 Emotional and Psychological Burden Mothers expressed profound emotional distress, often marked by shock, guilt, sadness, and fear of isolation upon learning their child had a BD. Mothers also reported financial, and relational challenges following the birth of a child with a visible BD. These reactions were exacerbated by blame from partners or in-laws and lack of social support. One mother shared, “ When I saw him, I was scared. I didn’t know if my husband would accept us.” (M6) Feelings of self-blame were particularly intense among mothers, influenced by prevailing cultural narratives that positioned them as responsible for their child’s condition. 2.2 Social Stigma and Exclusion Majority of participants highlighted the key challenges of societal stigma, financial difficulties, and relational tensions. Mothers described pervasive community stigma and reported feeling judged, isolated, or compelled to hide their children from others due to fear of negative reactions. This social rejection compounded their emotional burden and led to social withdrawal. Responses from some mothers are shared. “Neighbors stopped visiting. They said I brought shame to the family.” (M5) “I lost friends. They didn’t want their children to play with mine.” (M7) One healthcare worker mentioned. “ Those mothers have fears from the society and those fears are like “How will I explain to the people? You know in Africa everyone will want to come and see your baby.” (HW1). Stigma extended to health facilities, where some mothers reported insensitive treatment or lack of understanding from frontline workers. 2.3 Financial Strain and Limited Support Financial constraints and limited access to specialized care were major challenges for affected families. Treatment costs created economic hardships, leading to debt and strained relationships. The economic burden of long-term care, including medication, specialized referrals, and travel, was frequently highlighted. Many families incurred debt or faced food and rent insecurity due to treatment costs. “We borrowed money to go to the city hospital. Now we are in debt and can’t pay rent.” (M8) “Yes, these babies need a lot of treatment, they need specialized treatment although sometimes health workers do not give us the required treatment in full. I can go to a hospital and I need treatment and at times I do not have money, but they ask me to first pay some money, but I do not have.” (M4) Healthcare workers acknowledged that specialized services were centralized and inaccessible for rural families. “Only one hospital has a neural specialist. Families travel long distances. Some give up altogether.” (HCW3) 2.4 Healthcare Worker and CHEW Constraints Healthcare workers and CHEWs identified limited training and inadequate preparedness to manage or explain BDs. This lack of capacity impeded their ability to support affected families or challenge harmful beliefs. Below is what was shared by some participants. “We didn’t learn much about BDs in school. Sometimes I don’t know what to say to mothers.” (HCW4) Due to limited awareness about BDs, CHEWs often expressed frustration over their inability to offer accurate information or support, as captured in this reflection: “I had a neighbor with a child with a defect, but I didn’t know how to help. I was embarrassed.” (CHEW) The healthcare workers and CHEWs emphasized the need for improved support services, including financial assistance, accessible specialized care, and public education to reduce stigma. They highlighted the need for better resource distribution and financial support. One healthcare worker stated, "There is a monopoly in neural surgery. Families travel far for care. We need specialized services distributed across hospitals." (HW2) 3. Meanings Attached to BDs The meanings attached to BDs from majority of participants revealed limited community acceptance and understanding, moral attributions, and experiences of stigma and marginalization. Cultural and spiritual interpretations of BDs reflected deep-rooted moral and symbolic beliefs. BDs were viewed by many as a punishment, divine will, or a result of moral failings. These meanings often reinforced stigma and shaped how families responded to their child’s condition. One participant said, “People say it's a punishment from God. They don’t think of it as a medical issue.” (CHEW3) Mothers also shared being blamed for moral failure, further isolating them from their communities. “They said maybe I was with another man or did something bad, and now I am paying for it.” (M9) There was also ambivalence toward herbal and unprescribed medication. While some believed herbs to be a cause of BDs, others viewed it as a remedy, albeit one that requires regulation and further research. “Herbs might help, but some are dangerous. We don’t know what’s inside.” (M10) Emerging ideas about the prevention of birth defects were noted, but they remained limited and poorly developed and these included avoidance of herbal and unprescribed medication. Although, some participants acknowledged the importance of maintaining a stress-free pregnancy, avoiding harmful substances, and seeking early diagnosis as a way of preventing BDs, but these concepts were not widely understood or commonly discussed. “People say it's a punishment from God. They don’t think of it as a medical issue.” (CHEW3) Discussion This study highlights significant gaps in knowledge and varied beliefs regarding the causes and prevention of externally visible BDs among mothers, CHEWs, and some healthcare workers. Although healthcare workers generally demonstrated a more accurate understanding of medical causes and preventive measures, misconceptions persisted among mothers and CHEWs and reflecting broader community-level gaps in awareness. In a study of pregnant women in Ghana, understanding of birth defects varied, nearly half attributed birth defects to supernatural causes, highlighting the role of both knowledge and beliefs (6). In our study, while healthcare workers demonstrated relatively accurate awareness of causes and prevention, mothers and CHEWs showed limited awareness and mixed explanatory beliefs that included both biomedical and cultural or spiritual explanations. The findings resonate with previous research from similar settings. For example, a study conducted in Nigeria, concluded that knowledge of BDs is relatively low among pregnant women and emphasized the need to educate mothers on BDs, and their prevention (7). They also highlighted the importance of screening for BDs during pregnancy to reduce both the occurrence and severity of these conditions (7). In our study, mostly mothers and CHEW participants perceived the supernatural forces, divine punishment and use of unprescribed medicines as some of the causes of BDs, highlighting significant cultural and contextual factors that influence their beliefs. Similar results from comparable settings in Ethiopia support these findings, with nearly half of parents in that study associating congenital malformations with sin, contraceptive pills, unprescribed drugs, or exposure to agricultural chemicals (8). Other studies of pregnant women and mothers from Ghana and Philippines identified genetics or heredity, stress, a fall during pregnancy, maternal illness, teenage pregnancy, a thin uterine lining, twin-twin transfusion syndrome, God's will, and smoking as potential causes of certain BDs (6, 9). These findings collectively point to the powerful influence of sociocultural contexts in shaping perceptions of BDs and the urgent need for community-level health education. In contrast, a study conducted in Sri Lanka, a similar resource limited setting, found relatively higher awareness of BDs but still identified preconception and prenatal health education particularly focusing on BD prevention as essential for improving outcomes (10). This aligns with the current study’s suggestion to strengthen community-based education, particularly focusing on maternal health behaviors and medical risk factors prior to and during pregnancy. The limited awareness of such behaviors and risk factors as well as limited understanding of biomedical causes and preventive practices identified in our study, represents a missed opportunity for primary prevention—especially through well-established measures such as folic acid supplementation and early antenatal care. The study further recommended improving knowledge among antenatal mothers to reduce the occurrence of BDs ideally before conception (10). Lack of awareness about BDs identified in our study highlights a significant gap in public understanding that could be critical for enhancing knowledge of their causes, risk factors, and for promoting preventive measures to support better outcomes for affected individuals, families, and the wider community. Beyond knowledge, this study revealed the deep emotional and psychological toll that birth defects impose on affected families. In our study, mothers reported several emotional impacts, such as experiencing psychological shock, stress, and feelings of pain and sadness, on top of financial constraints and relationship strains after delivering a baby with externally visible BDs. These emotional reactions were often compounded by strained family relationships and persistent financial burdens related to caregiving responsibilities. These challenges extend to their families and communities, emphasizing the need for them to be addressed. Similar findings have been reported in Uganda, where mothers of children with BDs faced profound emotional and financial distress during hospital stays, further highlighting the multidimensional impact of these conditions (11). Consistent with studies conducted in other low-resource settings (4, 12, 13), our findings emphasize the lack of adequate emotional, social, and financial support for affected families. Cultural taboos, stigma, and social exclusion emerged as additional burdens, undermining the coping capacity of both mothers and families. In some communities, these challenges are so severe that they lead to social rejection, isolation, and even abandonment of the affected child (14, 15, 16). For instance, studies have reported psychological breakdowns among women in rural districts due to a lack of support following the birth of a child with a congenital anomaly (15). Such realities call for a comprehensive approach that integrates psychosocial and spiritual support into maternal and child health services. The findings in this qualitative sub study complement quantitative findings of the main surveillance project (2) with rich qualitative data, by providing in-depth insights and a more comprehensive understanding of the lived realities of families and communities affected by visible external BDs. Based on findings from this qualitative sub-study, health education interventions can be prioritized to raise awareness about birth defects among pregnant women, their families, and the broader community. These interventions should be culturally sensitive and grounded in evidence-based strategies for birth defect prevention. Such strategies may include ensuring adequate folic acid and iodine intake through food fortification or supplementation, promoting healthy maternal behaviors, and improving access to quality antenatal care. (17, 18). By strengthening community-level awareness and early preventive measures, it may be possible to reduce the occurrence and severity of BDs while mitigating their emotional, social, and economic impact. It may be beneficial to focus on educating mothers attending and delivering in hospitals and the community at large to raise awareness on BDs, their causes, and prevention methods. . Although women attending antenatal care have access to folic acid, preventing birth defects may involve promoting adequate intake of folic acid and iodine through food fortification and supplementation, encouraging healthy maternal behaviors, and ensuring access to quality medical care before and during pregnancy. Interventions that are culturally sensitive and incorporate evidence-based strategies to prevent BDs will aid in uptake. By strengthening community-level awareness and early preventive measures, it may be possible to reduce the occurrence and severity of BDs while mitigating their emotional, social, and economic impact. Conclusions Several participants, particularly the mothers and members of the wider community, were not aware of the causes and prevention methods for BD(s) hindering early detection and preventive efforts. This highlights a significant gap in BD public awareness that could be key to improving early detection, understanding risk factors, and promoting preventive measures for BDs. Mothers giving birth to a baby with a BD were stressed and stigmatized by family and communities. Designing community awareness programs and support networks that foster a more accepting and supportive environment for individuals with a BD and their families may benefit them. Enhancing education and awareness, through targeted health education programs, could empower healthcare workers and communities to support affected families better and encourage preventive practices, where possible. Implementing culturally sensitive awareness programs and support networks could foster acceptance and improve support for affected families. Additionally, specialized follow-up services, including early healthcare access and medical/surgical care for children born with BD, might benefit mothers and their babies, as well as the wider community. Declarations Ethical considerations This study was reviewed and approved by the U.S. Centers for Disease Control and Prevention Institutional Review Board (IRB) protocol number #6606, the Joint Clinical Research Center IRB, and the Uganda National Council for Science and Technology (UNCST), following 45 C.F.R. part 46; 21 C.F.R. part 56. Authors’ contribution JNM took the lead in preparing and writing the manuscript and is accountable for ensuring that any questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. JE, KM, DMM, RS, FZ, GN, FN, DK, IL, DK, NS, PMNM, RK, PM, and AK contributed significantly to the conception, design, data analysis, and interpretation of the study. JG, AGF, and AK were actively involved in drafting the manuscript, conducting data analysis, and critically revising the manuscript for important intellectual content. They also reviewed multiple drafts to ensure the accuracy and integrity of the work. All authors have read and approved the final submitted version of the manuscript and agree to be accountable for all aspects of the work. All authors approved the submitted final manuscript version Acknowledgements The authors thank the administration team of MU-JHU Research Collaboration for good a collaboration with the trial research team. The authors also thank the Mulago National Referral Hospital, Kawempe National Referral Hospital, Mengo Hospital and Nsambya Hospital for the warm collaboration and support. Healthcare workers, CHEWs, and mothers that participated in this study, without whom this study would not have been possible, are recognized. Funding This research was supported by the President’s Emergency Plan for AIDS Relief (PEPFAR) through the U.S. Centers for Disease Control and Prevention (CDC) under the terms of a Cooperative Agreement numbers GH0000487 and GH002171. Disclaimer: The findings and conclusions are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention Competing interests The authors declare that they have no competing interests. Consent for publication Not applicable Availability of data and materials The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request. References World Health Organization. (2023). Birth defects. https://www.who.int/news-room/fact-sheets/detail/birth-defects Mumpe-Mwanja D, Barlow-Mosha L, Williamson D, Valencia D, Serunjogi R, Kakande A, et al. A hospital-based birth defects surveillance system in Kampala, Uganda. BMC Pregnancy Childbirth. 2019; 19:372). Namale-Matovu, J., Kusolo, R., Serunjogi, R. et al. Strengthening capacity of health workers to diagnose birth defects in Ugandan hospitals from 2015 to 2021. 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West Afr J Med. 2021 Jun 26;38(6):531-536. PMID: 34174180). Taye M (2021) Parents’ perceived knowledge and beliefs on congenital malformations and their causes in the Amhara region, Ethiopia. A qualitative study. PLoS ONE 16(11): e0257846. https://doi.org/10.1371/journal) pone.0257846. Felipe-Dimog EB, Tumulak MJR, Laurino MY, Daack-Hirsch S, Silao CLT, Conaco MCG, Padilla CD, Estacio LR Jr. Beliefs on the causes of birth defects as perceived by mothers of children with birth defects in a tertiary care hospital in the Philippines. J Community Genet. 2022 Apr;13(2):183-191. doi: 10.1007/s12687-021-00543-2. Epub 2022 Jan 7. PMID: 34993741; PMCID: PMC8941034 De Silva, J., Amarasena, S., Jayaratne, K. et al. Correlates of knowledge on birth defects and associated factors among antenatal mothers in Galle, Sri Lanka: a cross-sectional analytical study. BMC Pregnancy Childbirth 19, 35 (2019). https://doi.org/10.1186/s12884-018-2163- Kalubi Peters, Moses Ochora, Keneema Olive, Nampijja Dorah, Kyasimire Lydia, Kyoyagala Stella: In Hospital Experiences of Mothers of Children with Major External Birth Defects During Hospitalisation at a Tertiary Hospital in South Western Uganda) Mazibuko TB, Ramukumba T, Ngwenya N. The lived experiences of mothers who have children with congenital abnormalities in the Gert Sibande district. Curationis. 2022 Jul 26;45(1):e1-e6. doi: 10.4102/curationis.v45i1.2250. PMID: 35924614; PMCID: PMC9350513 Choi Sugy; Shin Heesu; Heo Jongho; Gedlu Etsegenet; Nega Berhanu; Moges Tamirat; et al. How do caregivers of children with congenital heart diseases access and navigate the healthcare system in Ethiopia? 2021; 21(1). https://doi.org/10.1186/s12913-021-06083-2 PMID: 33526022) Jane Commander, Sarah; Danielle Ellis; Hannah Williamson; Felix Oyania; Comfart Ruhigwa; Martin Situma; et al. Social and financial barriers may contribute to a "hidden mortality" in Uganda for children with congenital anomalies. 2021; 169(2). https://doi.org/10.1016/j.surg.2020.09.018 PMID: 33097243 89) Aynalem BY, Melesse MF, Bitewa YB. Cultural Beliefs and Traditional Practices During Pregnancy, Child Birth, and the Postpartum Period in East Gojjam Zone, Northwest Ethiopia: A Qualitative Study. Womens Health Rep (New Rochelle). 2023 Aug 16;4(1):415-422. doi: 10.1089/whr.2023.0024. PMID: 37645589; PMCID: PMC10460962) Stone M.B., Botto L.D., Feldkamp M.L., Smith K.R., Roling L., Yamashiro D., Alder S.C. Improving quality of life of children with oral clefts. J. Craniofacial Surg. 2010; 21:1359–1361. [PubMed]). Ministry of Health. (2010). Guidelines on maternal nutrition in Uganda (1st ed.). Ministry of Health, Uganda. Uganda Nutrition Action Plan II 2020/21-2024/25. Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Reviews received at journal 29 Sep, 2025 Reviewers agreed at journal 19 Sep, 2025 Reviewers invited by journal 17 Sep, 2025 Editor invited by journal 20 Aug, 2025 Editor assigned by journal 18 Aug, 2025 Submission checks completed at journal 18 Aug, 2025 First submitted to journal 18 Aug, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7399327","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":520224380,"identity":"36c68f8c-0dd2-4e4b-a81f-5ea3f27b50d1","order_by":0,"name":"Joyce 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12:59:26","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1211044,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7399327/v1/3f15e036-0865-421b-8886-43ecd5def530.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Perceptions, Experiences, and Meanings of Externally Visible Birth Defects: Insights from Mothers, Healthcare Workers, and Community Health Extension Workers in Uganda","fulltext":[{"header":"Introduction","content":"\u003cp\u003eEach year, an estimated eight million babies (6% of births worldwide) are born with birth defects (BDs), resulting in thousands of associated deaths, with prevalence varying from region to region (1). Since 2015, Makerere University\u0026ndash;Johns Hopkins University Research Collaboration (MU-JHU) in Kampala, Uganda has operated a BD surveillance project. The objective is to determine BD prevalence and identify associations between maternal use of antiretroviral therapy (ART) to treat HIV infection and common medicines in early pregnancy with the occurrence of BDs. Initial findings from the surveillance showed that the overall prevalence of major external BD was 66.2/10,000 births (95% CI: 60.5\u0026ndash;72.5), with the most prevalent being hypospadias (2).\u003c/p\u003e\u003cp\u003eIn this surveillance project, surveillance midwives provide counselling support to mothers and their partners, whose newborns were diagnosed with a BD (3). Despite this initial counselling support, there is lack of extensive documentation on mother\u0026rsquo;s experience regarding delivering a baby with an externally visible BD, and yet, this is an important and under-studied aspect. Available research shows that parents have varying perceptions and experiences regarding external BDs in their affected newborns, including cultural taboos (4). At health facilities, healthcare workers are often the first to identify and manage BDs. They can play a critical role in supporting mothers and families with affected newborns (3). However, healthcare workers in Uganda encounter significant challenges in managing birth defects, including limited resources, insufficient training, and systemic issues (5). Additionally, there is a lack of data regarding their experiences with BDs. Understanding the experiences of healthcare workers could offer valuable insights into their perspectives on external BDs, potentially helping to address knowledge gaps and guide the development of tailored interventions for these conditions.\u003c/p\u003e\u003cp\u003eAfter discharge from health facilities, babies with BDs stay with their families in their respective communities. Currently, although organizations that offer community-based services and support for babies/children with BDs like Mildmay hospital and Comprehensive Rehabilitation Services for People with Disability in Uganda (CoRSU) are available, but what happens to such babies with BDs after discharge remains unclear, prompting us to seek an understanding of community perspectives on externally visible BDs in Uganda. Hence, a qualitative sub-study was conducted to explore perceptions, experiences, and meanings attached to externally visible BDs from mothers, healthcare workers, and community health extension workers (CHEWs) involved in care. These insights could inform the design of targeted interventions, policies, and programs aimed at improving care and outcomes for children with BDs and their families.\u003c/p\u003e"},{"header":"Materials and Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\u003ch2\u003eStudy design\u003c/h2\u003e\u003cp\u003eThis study employed a cross-sectional qualitative design utilizing in-depth interviews (IDIs), key informant interviews (KIIs), and focus group discussions (FGDs) as data collection methods. The study was conducted between October 2022 through May 2023 in four hospitals within Kampala, Uganda. These included Mulago National Referral Hospital - a government/public facility - and three faith-based hospitals namely Mengo, Lubaga, and St. Francis Nsambya Hospitals. These hospitals have been sites for the BD surveillance project since 2015.\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eStudy population and recruitment\u003c/h3\u003e\n\u003cp\u003e From the outset, a specific number of participants to recruit was agreed, including mothers, healthcare workers and CHEWs. Once these targets were reached, recruitment was halted. The recruitment process was designed to ensure the inclusion of relevant and willing participants. Thirty mothers whose infants were diagnosed with externally visible BDs of interest to the study were purposively selected for IDIs based on predefined inclusion criteria. The externally visible BDs of interest were anencephaly, craniorachischisis, iniencephaly, encephalocele, spina bifida, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate only, cleft lip only, cleft lip with cleft palate, imperforate anus, hypospadias (for males), talipes equinovarus/clubfoot, limb reduction deficiencies, gastroschisis, and omphalocele. Mothers were eligible to participate if they were 18 years or older, delivered at one of the four study hospitals, and provided informed consent to participate.\u003c/p\u003e\u003cp\u003eAt each study hospital, the nurse coordinator or designated focal person verbally assessed eligible participants' willingness to join the study and recorded their information in the IDI recruitment tracker form for follow-up by the study research assistant within three months postpartum. Those who had expressed their willingness were contacted by phone and invited to attend scheduled individual interviews at MU-JHU. On the interview date, the research assistant obtained written informed consent from each participant before conducting the interviews\u003c/p\u003e\u003cp\u003eHealthcare workers (doctors, surveillance officers, and hospital nurses/midwives from participating study hospitals) were purposively selected to participate in KIIs based on predefined criteria. Selection criteria required healthcare workers to have been involved in the care of infants with BDs for at least two years and to provide a written informed consent prior to their participation in the study. The hospital liaison coordinator in collaboration with the nurse coordinator or focal person identified healthcare workers from each hospital to be contacted by the study research assistant.\u003c/p\u003e\u003cp\u003eThe CHEWs were purposively selected for FGDs from communities they served based on predefined criteria. To understand community dynamics and the types of support CHEWs provided to families, local leaders were involved in the selection process. The participants of each FGD included one or two CHEWs from each of the five divisions of Kampala. The office of local council 3 chairperson of each Kampala division participated in the selection process. The phone contacts of those willing to participate were registered by the research assistant. These were later contacted and invited to participate in the FGDs, after providing a written informed consent.\u003c/p\u003e\n\u003ch3\u003eData Collection\u003c/h3\u003e\n\u003cp\u003ePrior to data collection, study staff underwent training on the sub-study aims, procedures, interview techniques, and data collection tools. The training was facilitated by qualitative research experts and included both didactic and practical sessions. Data quality was ensured by designated study staff who reviewed all required data fields in real time allowing for immediate corrective actions and to confirm completeness.\u003c/p\u003e\u003cp\u003eA written informed consent was obtained prior to conducting any participant interview and the IDI English consent form is available (Appendix A). IDIs were conducted in Luganda or English using a guide with an English version available (Appendix B). KIIs were conducted using an English guide (Appendix C). Four FGDs, each consisting of six to eight CHEWs, were facilitated using a Luganda-based FGD guide, with an English version also available (Appendix D).\u003c/p\u003e\u003cp\u003eInterviews and discussions were conducted by a trained facilitator with a non-participant observer serving as a note-taker. Visual aids including BD reference images were provided to participants for clarity. All sessions were audio-recorded following written informed consent and permission to record the session.\u003c/p\u003e\u003cp\u003eAudio recordings were transcribed, translated into English, and quality-assured through proofreading and verification. The verified transcripts were uploaded into ATLAS.ti version 9.1.3.0 software for systematic coding, data management, and analysis.\u003c/p\u003e\u003cdiv id=\"Sec6\" class=\"Section2\"\u003e\u003ch2\u003eData Analysis\u003c/h2\u003e\u003cp\u003eDescriptive statistics were employed to summarize participant characteristics. A thematic analysis approach was utilized to generate in-depth insights from the qualitative data. Transcripts were initially subjected to a systematic, multi-level coding process comprising first-order (codes), second-order sub codes (child codes), and third-order (grandchild codes) subcategories. Emerging themes were inductively derived through an iterative analytical process. To enhance methodological rigor and ensure consistency in interpretation, the research team engaged in regular collaborative meetings to refine the coding framework, revise the codebook, and reach consensus on the final thematic structure. Representative participant quotations were selected to illustrate and substantiate each identified themes/finding.\u003c/p\u003e\u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\n \u003ch2\u003eParticipant characteristics\u003c/h2\u003e\n \u003cp\u003eA total of 30 mothers were recruited with median (interquartile range [IQR]) age of 27 (22\u0026ndash;31) years. Seventeen (56.7%) had attained secondary level education, 15 (50.0%) were employed, and 28 (93.3%) were married (Table \u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\n \u003ctable id=\"Tab1\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eDemographic characteristics of mothers who participated in in-depth interviews\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eCharacteristic\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003en (%)\u003c/p\u003e\n \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;30)\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eAge (years)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u0026lt;30\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e19 (63.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u0026ge;30\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e11 (36.7)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eEducation level\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePrimary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e7 (23. 3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSecondary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e17 (56.7)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePost-secondary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e6 (20.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eEmployed\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eNo\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eYes\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eMarital status\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e28 (93.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e2 (6.7)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003eTable\u0026nbsp;\u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e: \u003cstrong\u003eDemographic characteristics of mothers who participated in in-depth interviews\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eTen KIIs were conducted among 2 (20%) physicians/consultants, 5 (50%) faith-based hospital surveillance midwives, 1 (10%) government/public facility midwife, and 2 (20%) independent MU-JHU surveillance midwives.\u003c/p\u003e\n \u003cp\u003eThe study recruited 30 CHEWs with median (IQR) 40 (32\u0026ndash;52), to engage in FGDs with 15 (50.0%) over 30 years of age; 15 (50.0%) female, 19 (63.3%) married, and 16 (53.3%) had attained secondary level education (Table \u003cspan class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\n \u003ctable id=\"Tab2\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003e\u003cstrong\u003eDemographic characteristics of community health extension workers who participated in focus group discussions\u003c/strong\u003e\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eCharacteristic\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003en (%)\u003c/p\u003e\n \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;30)\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eAge\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\u0026nbsp;\u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u0026lt;40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u0026ge;40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eSex\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eFemale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eMale\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e15 (50.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eEducation level\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePrimary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e3 (10.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSecondary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e16 (53.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePost-secondary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e11 (36.7)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e\u003cstrong\u003eMarital status\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSingle\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e9 (30.0)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eMarried\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e19 (63.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eCohabiting\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e1 (3.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eWidowed\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"char\"\u003e\n \u003cp\u003e1 (3.3)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003eTable \u003cspan class=\"InternalRef\"\u003e2\u003c/span\u003e: \u003cstrong\u003eDemographic characteristics of community health extension workers who participated in focus group discussions\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eTable \u003cspan class=\"InternalRef\"\u003e3\u003c/span\u003e presents a detailed summary of the key findings, including categories, codes, and specific examples.\u003c/p\u003e\n \u003cdiv class=\"gridtable\"\u003e\n \u003ctable id=\"Tab3\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003e\u003cstrong\u003eCategories, Codes, Child codes, and Grandchild codes on externally visible birth defects (BDs)\u003c/strong\u003e\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eCategory\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eFirst-order codes\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eSecond-order sub codes (child codes)\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eThird-order (grandchild codes)\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"13\"\u003e\n \u003cp\u003ePerceptions about externally visible BDs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eAwareness of BDs, Causes, and Prevention\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eKnowledge gaps among participants\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"10\"\u003e\n \u003cp\u003ePerceived causes of BDs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eHereditary\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003eLifestyle factors\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eAlcohol\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSmoking\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePoor nutrition\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003eSupernatural beliefs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eWitchcraft\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eCurses\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003eEnvironmental and situational factors\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eEarthquakes\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eMedications\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003eMedical causes\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eFamily planning methods\u003c/p\u003e\n \u003cp\u003eCOVID-19 vaccination\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eDelays in antenatal clinic\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003ePerceived prevention\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eFolic acid supplementation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eKnowledge gaps\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"12\"\u003e\n \u003cp\u003eExperiences of Families, and Healthcare Workers\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003eEmotional challenges\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eShock\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSadness\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eIsolation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003eFinancial strain\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eIncreased healthcare costs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eDebts\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003eSocial challenges\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eStigma\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eExclusion\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eHiding children\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eRelational challenges\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eStrained partner relationships\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003eSupport needs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eFinancial assistance\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eAccessible specialized care\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003ePublic education\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"10\"\u003e\n \u003cp\u003eMeanings attached to BDs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" rowspan=\"4\"\u003e\n \u003cp\u003eCultural and spiritual beliefs\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\" rowspan=\"2\"\u003e\n \u003cp\u003eBDs linked to supernatural causes\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eWitchcraft\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eGod\u0026apos;s plan\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eStressful pregnancies as triggers for supernatural retribution\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eCo-wife disputes/conflicts seen as causes of supernatural effects\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003eRole of herbal medicine\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eSkepticism regarding herbal remedies\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eRisks from lack of regulation\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eAdvocacy for research on safety and efficacy of herbal medicine\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eCareful use of herbal medicine emphasized by mothers\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\" rowspan=\"3\"\u003e\n \u003cp\u003ePreventive measures\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eAvoidance of herbal and unprescribed medications\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eImportance of early pregnancy scans\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eMaintaining stress-free pregnancies\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\u0026nbsp;\u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eTable \u003cspan class=\"InternalRef\"\u003e3\u003c/span\u003e: \u003cstrong\u003eCategories, Codes, Child codes, and Grandchild codes on externally visible birth defects (BDs)\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003ePerceptions about BDs\u003c/strong\u003e\u003c/p\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e1. Perceptions of Externally Visible Birth Defects\u003c/strong\u003e\u003c/p\u003e\n \u003c/span\u003e\u003cspan\u003e\n \u003cp\u003e\u003cstrong\u003e1.1 Awareness and Understanding of BDs\u003c/strong\u003e\u003c/p\u003e\n \u003c/span\u003e\n \u003cp\u003eAwareness of externally visible BDs varied across participant groups. While healthcare workers demonstrated relatively more knowledge, significant gaps in awareness and understanding were reported among mothers and CHEWs. Many mothers only became aware of BDs after giving birth to an affected child, with limited prior information from antenatal services. A CHEW reflected:\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Most people in the community, including myself before training, thought birth defects were just accidents or rare punishments. We don\u0026rsquo;t learn about them unless we see them.\u0026rdquo;\u003c/em\u003e (CHEW)\u003c/p\u003e\n \u003cp\u003eA mother similarly expressed:\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I had never heard of such a thing before I gave birth. When the nurse explained it, I was shocked and confused.\u0026rdquo;\u003c/em\u003e (M1)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e1.2 Perceived Causes of BDs\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eParticipants described multiple, and often overlapping, explanations for BDs, encompassing biomedical, behavioral, environmental, and spiritual beliefs. Hereditary and lifestyle factors\u0026mdash;such as alcohol consumption, smoking, poor nutrition, and herbal medicine\u0026mdash;were frequently cited. Knowledge gaps about causes of BDs were noted among majority of mothers and CHEWs. Some mothers and CHEWs believed that BDs resulted from neglecting antenatal care or using family planning methods.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Some women use herbs when pregnant, and nobody checks if they are safe. That could be the reason defects come.\u0026rdquo;\u003c/em\u003e (M3)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Most of the women are now using family planning. This family planning is affecting most of their pregnancies.\u0026rdquo;\u003c/em\u003e (CHEW)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We see more cases during certain seasons, maybe because people eat different foods or get exposed to new things like chemicals.\u0026rdquo;\u003c/em\u003e (CHEW)\u003c/p\u003e\n \u003cp\u003eSupernatural and moral explanations were also widespread. BDs were often attributed to witchcraft, curses, divine punishment, or maternal misdeeds. These beliefs contributed to stigmatizing attitudes toward affected children and their mothers.\u003c/p\u003e\n \u003cp\u003eA participant commented, \u003cem\u003e\u0026ldquo;We have to accept that some of the birth defects are created by God.\u0026rdquo;\u003c/em\u003e (M7)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;In our village, they say if you wrong someone, like a co-wife, she might bewitch you, and your baby will be born that way.\u0026rdquo;\u003c/em\u003e (M2)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Some think it is God\u0026apos;s plan or a curse for something the mother did before marriage.\u0026rdquo;\u003c/em\u003e (HCW2)\u003c/p\u003e\n \u003cp\u003eParticipants also reported that having multiple partners during pregnancy as another contributing factor to the causes of BDs as explained below.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Communities think that. Mothers who bear babies with birth defects have an extra affair during their pregnancy.\u0026rdquo;\u003c/em\u003e (CHEW)\u003c/p\u003e\n \u003cp\u003eCOVID-19 vaccination was also attributed to some of the causes of BDs among participants.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;The other thing I thought about, maybe these were caused by the vaccination that we had, because I got vaccinated when I was pregnant, I did not know that I was pregnant and I went and had a COVID-19 vaccine. So, I keep thinking that maybe it also caused this situation.\u0026rdquo;\u003c/em\u003e (M21)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e1.3 Perceptions of Prevention\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003ePreventive measures were rarely mentioned, and when they were, knowledge was fragmented. A few healthcare workers cited folic acid supplementation and early antenatal care as important, but these practices were not widely understood or accessed by mothers.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We tell mothers to take folic acid, but many don\u0026rsquo;t know why. Some think it\u0026apos;s just another vitamin.\u0026rdquo;\u003c/em\u003e (HCW1)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e2. Experiences of Families Healthcare Workers and CHEWs\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eWhile exploring participants\u0026rsquo; experiences, an important theme emerged highlighting significant emotional, financial, and social challenges faced by families caring for children born with BDs.\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e2.1 Emotional and Psychological Burden\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eMothers expressed profound emotional distress, often marked by shock, guilt, sadness, and fear of isolation upon learning their child had a BD. Mothers also reported financial, and relational challenges following the birth of a child with a visible BD. These reactions were exacerbated by blame from partners or in-laws and lack of social support. One mother shared,\u003c/p\u003e\n \u003cp\u003e\u0026ldquo;\u003cem\u003eWhen I saw him, I was scared. I didn\u0026rsquo;t know if my husband would accept us.\u0026rdquo;\u003c/em\u003e (M6)\u003c/p\u003e\n \u003cp\u003eFeelings of self-blame were particularly intense among mothers, influenced by prevailing cultural narratives that positioned them as responsible for their child\u0026rsquo;s condition.\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e2.2 Social Stigma and Exclusion\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eMajority of participants highlighted the key challenges of societal stigma, financial difficulties, and relational tensions. Mothers described pervasive community stigma and reported feeling judged, isolated, or compelled to hide their children from others due to fear of negative reactions. This social rejection compounded their emotional burden and led to social withdrawal. Responses from some mothers are shared.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Neighbors stopped visiting. They said I brought shame to the family.\u0026rdquo;\u003c/em\u003e (M5)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I lost friends. They didn\u0026rsquo;t want their children to play with mine.\u0026rdquo;\u003c/em\u003e (M7)\u003c/p\u003e\n \u003cp\u003eOne healthcare worker mentioned. \u0026ldquo;\u003cem\u003eThose mothers have fears from the society and those fears are like \u0026ldquo;How will I explain to the people? You know in Africa everyone will want to come and see your baby.\u0026rdquo;\u003c/em\u003e (HW1).\u003c/p\u003e\n \u003cp\u003eStigma extended to health facilities, where some mothers reported insensitive treatment or lack of understanding from frontline workers.\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e2.3 Financial Strain and Limited Support\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eFinancial constraints and limited access to specialized care were major challenges for affected families. Treatment costs created economic hardships, leading to debt and strained relationships. The economic burden of long-term care, including medication, specialized referrals, and travel, was frequently highlighted. Many families incurred debt or faced food and rent insecurity due to treatment costs.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We borrowed money to go to the city hospital. Now we are in debt and can\u0026rsquo;t pay rent.\u0026rdquo;\u003c/em\u003e (M8)\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Yes, these babies need a lot of treatment, they need specialized treatment although sometimes health workers do not give us the required treatment in full. I can go to a hospital and I need treatment and at times I do not have money, but they ask me to first pay some money, but I do not have.\u0026rdquo;\u003c/em\u003e (M4)\u003c/p\u003e\n \u003cp\u003eHealthcare workers acknowledged that specialized services were centralized and inaccessible for rural families.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Only one hospital has a neural specialist. Families travel long distances. Some give up altogether.\u0026rdquo;\u003c/em\u003e (HCW3)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e2.4 Healthcare Worker and CHEW Constraints\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eHealthcare workers and CHEWs identified limited training and inadequate preparedness to manage or explain BDs. This lack of capacity impeded their ability to support affected families or challenge harmful beliefs. Below is what was shared by some participants.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We didn\u0026rsquo;t learn much about BDs in school. Sometimes I don\u0026rsquo;t know what to say to mothers.\u0026rdquo; (HCW4)\u003c/em\u003e\u003c/p\u003e\n \u003cp\u003eDue to limited awareness about BDs, CHEWs often expressed frustration over their inability to offer accurate information or support, as captured in this reflection:\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I had a neighbor with a child with a defect, but I didn\u0026rsquo;t know how to help. I was embarrassed.\u0026rdquo; (CHEW)\u003c/em\u003e\u003c/p\u003e\n \u003cp\u003eThe healthcare workers and CHEWs emphasized the need for improved support services, including financial assistance, accessible specialized care, and public education to reduce stigma. They highlighted the need for better resource distribution and financial support.\u003c/p\u003e\n \u003cp\u003eOne healthcare worker stated,\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;There is a monopoly in neural surgery. Families travel far for care. We need specialized services distributed across hospitals.\u0026quot;\u003c/em\u003e (HW2)\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e3. Meanings Attached to BDs\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003eThe meanings attached to BDs from majority of participants revealed limited community acceptance and understanding, moral attributions, and experiences of stigma and marginalization. Cultural and spiritual interpretations of BDs reflected deep-rooted moral and symbolic beliefs. BDs were viewed by many as a punishment, divine will, or a result of moral failings. These meanings often reinforced stigma and shaped how families responded to their child\u0026rsquo;s condition.\u003c/p\u003e\n \u003cp\u003eOne participant said, \u003cem\u003e\u0026ldquo;People say it\u0026apos;s a punishment from God. They don\u0026rsquo;t think of it as a medical issue.\u0026rdquo;\u003c/em\u003e (CHEW3)\u003c/p\u003e\n \u003cp\u003eMothers also shared being blamed for moral failure, further isolating them from their communities.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;They said maybe I was with another man or did something bad, and now I am paying for it.\u0026rdquo;\u003c/em\u003e (M9)\u003c/p\u003e\n \u003cp\u003eThere was also ambivalence toward herbal and unprescribed medication. While some believed herbs to be a cause of BDs, others viewed it as a remedy, albeit one that requires regulation and further research.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Herbs might help, but some are dangerous. We don\u0026rsquo;t know what\u0026rsquo;s inside.\u0026rdquo;\u003c/em\u003e (M10)\u003c/p\u003e\n \u003cp\u003eEmerging ideas about the prevention of birth defects were noted, but they remained limited and poorly developed and these included avoidance of herbal and unprescribed medication. Although, some participants acknowledged the importance of maintaining a stress-free pregnancy, avoiding harmful substances, and seeking early diagnosis as a way of preventing BDs, but these concepts were not widely understood or commonly discussed.\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;People say it\u0026apos;s a punishment from God. They don\u0026rsquo;t think of it as a medical issue.\u0026rdquo;\u003c/em\u003e (CHEW3)\u003c/p\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eThis study highlights significant gaps in knowledge and varied beliefs regarding the causes and prevention of externally visible BDs among mothers, CHEWs, and some healthcare workers. Although healthcare workers generally demonstrated a more accurate understanding of medical causes and preventive measures, misconceptions persisted among mothers and CHEWs and reflecting broader community-level gaps in awareness.\u003c/p\u003e\u003cp\u003eIn a study of pregnant women in Ghana, understanding of birth defects varied, nearly half attributed birth defects to supernatural causes, highlighting the role of both knowledge and beliefs (6). In our study, while healthcare workers demonstrated relatively accurate awareness of causes and prevention, mothers and CHEWs showed limited awareness and mixed explanatory beliefs that included both biomedical and cultural or spiritual explanations. The findings resonate with previous research from similar settings. For example, a study conducted in Nigeria, concluded that knowledge of BDs is relatively low among pregnant women and emphasized the need to educate mothers on BDs, and their prevention (7). They also highlighted the importance of screening for BDs during pregnancy to reduce both the occurrence and severity of these conditions (7). In our study, mostly mothers and CHEW participants perceived the supernatural forces, divine punishment and use of unprescribed medicines as some of the causes of BDs, highlighting significant cultural and contextual factors that influence their beliefs.\u003c/p\u003e\u003cp\u003eSimilar results from comparable settings in Ethiopia support these findings, with nearly half of parents in that study associating congenital malformations with sin, contraceptive pills, unprescribed drugs, or exposure to agricultural chemicals (8). Other studies of pregnant women and mothers from Ghana and Philippines identified genetics or heredity, stress, a fall during pregnancy, maternal illness, teenage pregnancy, a thin uterine lining, twin-twin transfusion syndrome, God's will, and smoking as potential causes of certain BDs (6, 9). These findings collectively point to the powerful influence of sociocultural contexts in shaping perceptions of BDs and the urgent need for community-level health education.\u003c/p\u003e\u003cp\u003eIn contrast, a study conducted in Sri Lanka, a similar resource limited setting, found relatively higher awareness of BDs but still identified preconception and prenatal health education particularly focusing on BD prevention as essential for improving outcomes (10). This aligns with the current study\u0026rsquo;s suggestion to strengthen community-based education, particularly focusing on maternal health behaviors and medical risk factors prior to and during pregnancy. The limited awareness of such behaviors and risk factors as well as limited understanding of biomedical causes and preventive practices identified in our study, represents a missed opportunity for primary prevention\u0026mdash;especially through well-established measures such as folic acid supplementation and early antenatal care. The study further recommended improving knowledge among antenatal mothers to reduce the occurrence of BDs ideally before conception (10). Lack of awareness about BDs identified in our study highlights a significant gap in public understanding that could be critical for enhancing knowledge of their causes, risk factors, and for promoting preventive measures to support better outcomes for affected individuals, families, and the wider community.\u003c/p\u003e\u003cp\u003eBeyond knowledge, this study revealed the deep emotional and psychological toll that birth defects impose on affected families. In our study, mothers reported several emotional impacts, such as experiencing psychological shock, stress, and feelings of pain and sadness, on top of financial constraints and relationship strains after delivering a baby with externally visible BDs. These emotional reactions were often compounded by strained family relationships and persistent financial burdens related to caregiving responsibilities. These challenges extend to their families and communities, emphasizing the need for them to be addressed. Similar findings have been reported in Uganda, where mothers of children with BDs faced profound emotional and financial distress during hospital stays, further highlighting the multidimensional impact of these conditions (11).\u003c/p\u003e\u003cp\u003eConsistent with studies conducted in other low-resource settings (4, 12, 13), our findings emphasize the lack of adequate emotional, social, and financial support for affected families. Cultural taboos, stigma, and social exclusion emerged as additional burdens, undermining the coping capacity of both mothers and families. In some communities, these challenges are so severe that they lead to social rejection, isolation, and even abandonment of the affected child (14, 15, 16). For instance, studies have reported psychological breakdowns among women in rural districts due to a lack of support following the birth of a child with a congenital anomaly (15). Such realities call for a comprehensive approach that integrates psychosocial and spiritual support into maternal and child health services.\u003c/p\u003e\u003cp\u003eThe findings in this qualitative sub study complement quantitative findings of the main surveillance project (2) with rich qualitative data, by providing in-depth insights and a more comprehensive understanding of the lived realities of families and communities affected by visible external BDs.\u003c/p\u003e\u003cp\u003eBased on findings from this qualitative sub-study, health education interventions can be prioritized to raise awareness about birth defects among pregnant women, their families, and the broader community. These interventions should be culturally sensitive and grounded in evidence-based strategies for birth defect prevention. Such strategies may include ensuring adequate folic acid and iodine intake through food fortification or supplementation, promoting healthy maternal behaviors, and improving access to quality antenatal care. (17, 18). By strengthening community-level awareness and early preventive measures, it may be possible to reduce the occurrence and severity of BDs while mitigating their emotional, social, and economic impact. It may be beneficial to focus on educating mothers attending and delivering in hospitals and the community at large to raise awareness on BDs, their causes, and prevention methods.\u003c/p\u003e\u003cp\u003e. Although women attending antenatal care have access to folic acid, preventing birth defects may involve promoting adequate intake of folic acid and iodine through food fortification and supplementation, encouraging healthy maternal behaviors, and ensuring access to quality medical care before and during pregnancy. Interventions that are culturally sensitive and incorporate evidence-based strategies to prevent BDs will aid in uptake. By strengthening community-level awareness and early preventive measures, it may be possible to reduce the occurrence and severity of BDs while mitigating their emotional, social, and economic impact.\u003c/p\u003e"},{"header":"Conclusions","content":"\u003cp\u003eSeveral participants, particularly the mothers and members of the wider community, were not aware of the causes and prevention methods for BD(s) hindering early detection and preventive efforts. This highlights a significant gap in BD public awareness that could be key to improving early detection, understanding risk factors, and promoting preventive measures for BDs. Mothers giving birth to a baby with a BD were stressed and stigmatized by family and communities. Designing community awareness programs and support networks that foster a more accepting and supportive environment for individuals with a BD and their families may benefit them. Enhancing education and awareness, through targeted health education programs, could empower healthcare workers and communities to support affected families better and encourage preventive practices, where possible. Implementing culturally sensitive awareness programs and support networks could foster acceptance and improve support for affected families. Additionally, specialized follow-up services, including early healthcare access and medical/surgical care for children born with BD, might benefit mothers and their babies, as well as the wider community.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthical\u003c/strong\u003e\u003cstrong\u003econsiderations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis study was reviewed and approved by the U.S. Centers for Disease Control and Prevention Institutional Review Board (IRB) protocol number #6606, the Joint Clinical Research Center IRB, and the Uganda National Council for Science and Technology (UNCST), following 45 C.F.R. part 46; 21 C.F.R. part 56.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors\u0026rsquo; contribution\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eJNM took the lead in preparing and writing the manuscript and is accountable for ensuring that any questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. JE, KM, DMM, RS, FZ, GN, FN, DK, IL, DK, NS, PMNM, RK, PM, and AK contributed significantly to the conception, design, data analysis, and interpretation of the study. JG, AGF, and AK were actively involved in drafting the manuscript, conducting data analysis, and critically revising the manuscript for important intellectual content. They also reviewed multiple drafts to ensure the accuracy and integrity of the work. All authors have read and approved the final submitted version of the manuscript and agree to be accountable for all aspects of the work. All authors approved the submitted final manuscript version\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors thank the administration team of MU-JHU Research Collaboration for good a collaboration with the trial research team. The authors also thank the Mulago National Referral Hospital, Kawempe National Referral Hospital, Mengo Hospital and Nsambya Hospital for the warm collaboration and support. Healthcare workers, CHEWs, and mothers that participated in this study, without whom this study would not have been possible, are recognized. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis research was supported by the President\u0026rsquo;s Emergency Plan for AIDS Relief (PEPFAR) through the U.S. Centers for Disease Control and Prevention (CDC) under the terms of a Cooperative Agreement numbers GH0000487 and GH002171.\u0026nbsp;\u003cstrong\u003eDisclaimer:\u0026nbsp;\u003c/strong\u003eThe findings and conclusions are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare that they have no competing interests.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.\u003c/p\u003e\n"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eWorld Health Organization. (2023). Birth defects. https://www.who.int/news-room/fact-sheets/detail/birth-defects\u003c/li\u003e\n\u003cli\u003eMumpe-Mwanja D, Barlow-Mosha L, Williamson D, Valencia D, Serunjogi R, Kakande A, et al. A hospital-based birth defects surveillance system in Kampala, Uganda. BMC Pregnancy Childbirth. 2019; 19:372).\u003c/li\u003e\n\u003cli\u003eNamale-Matovu, J., Kusolo, R., Serunjogi, R. et al. Strengthening capacity of health workers to diagnose birth defects in Ugandan hospitals from 2015 to 2021. BMC Med Educ 23, 766 (2023). https://doi.org/10.1186/s12909-023-04760-w).\u003c/li\u003e\n\u003cli\u003eLemacks J, Fowles K, Mateus A, Thomas K. Insights from Parents about Caring for a Child with Birth Defects. International Journal of Environmental Research and Public Health. 2013; 10(8):3465-3482. https://doi.org/10.3390/ijerph10083465\u003c/li\u003e\n\u003cli\u003eNamale-Matovu, J., Barlow-Mosha, L., Mumpe-Mwanja, D. et al. Overcoming staffing challenges when implementing a birth defects surveillance system: a Ugandan experience. J Global Health Rep, 2020. 4. ccby-4.0\u0026bull;https://doi.org/10.29392/001c.12503 \u003c/li\u003e\n\u003cli\u003eBello AI, Acquah AA, Quartey JN, Hughton A: Knowledge of pregnant women about birth defects. BMC Pregnancy and Childbirth. 2013; 13(45):1\u0026ndash;7. https://doi.org/10.1186/1471-2393-13-45 http://www.biomedcentral.com/1471-2393/1113/1145. PMID: 23425391)\u003c/li\u003e\n\u003cli\u003eAkinmoladun JA, Uchendu OC, Lawal TA, Oluwasola TAO. Awareness and Knowledge of Birth Defects among Antenatal Clinic Attendees at the University College Hospital, Ibadan, South-West, Nigeria. West Afr J Med. 2021 Jun 26;38(6):531-536. PMID: 34174180).\u003c/li\u003e\n\u003cli\u003eTaye M (2021) Parents\u0026rsquo; perceived knowledge and beliefs on congenital malformations and their causes in the Amhara region, Ethiopia. A qualitative study. PLoS ONE 16(11): e0257846. https://doi.org/10.1371/journal) pone.0257846. \u003c/li\u003e\n\u003cli\u003eFelipe-Dimog EB, Tumulak MJR, Laurino MY, Daack-Hirsch S, Silao CLT, Conaco MCG, Padilla CD, Estacio LR Jr. Beliefs on the causes of birth defects as perceived by mothers of children with birth defects in a tertiary care hospital in the Philippines. J Community Genet. 2022 Apr;13(2):183-191. doi: 10.1007/s12687-021-00543-2. Epub 2022 Jan 7. PMID: 34993741; PMCID: PMC8941034\u003c/li\u003e\n\u003cli\u003eDe Silva, J., Amarasena, S., Jayaratne, K. et al. Correlates of knowledge on birth defects and associated factors among antenatal mothers in Galle, Sri Lanka: a cross-sectional analytical study. BMC Pregnancy Childbirth 19, 35 (2019). https://doi.org/10.1186/s12884-018-2163-\u003c/li\u003e\n\u003cli\u003eKalubi Peters, Moses Ochora, Keneema Olive, Nampijja Dorah, Kyasimire Lydia, Kyoyagala Stella: In Hospital Experiences of Mothers of Children with Major External Birth Defects During Hospitalisation at a Tertiary Hospital in South Western Uganda)\u003c/li\u003e\n\u003cli\u003eMazibuko TB, Ramukumba T, Ngwenya N. The lived experiences of mothers who have children with congenital abnormalities in the Gert Sibande district. Curationis. 2022 Jul 26;45(1):e1-e6. doi: 10.4102/curationis.v45i1.2250. PMID: 35924614; PMCID: PMC9350513\u003c/li\u003e\n\u003cli\u003eChoi Sugy; Shin Heesu; Heo Jongho; Gedlu Etsegenet; Nega Berhanu; Moges Tamirat; et al. How do caregivers of children with congenital heart diseases access and navigate the healthcare system in Ethiopia? 2021; 21(1). https://doi.org/10.1186/s12913-021-06083-2 PMID: 33526022)\u003c/li\u003e\n\u003cli\u003eJane Commander, Sarah; Danielle Ellis; Hannah Williamson; Felix Oyania; Comfart Ruhigwa; Martin Situma; et al. Social and financial barriers may contribute to a \u0026quot;hidden mortality\u0026quot; in Uganda for children with congenital anomalies. 2021; 169(2). https://doi.org/10.1016/j.surg.2020.09.018 PMID: 33097243 89)\u003c/li\u003e\n\u003cli\u003eAynalem BY, Melesse MF, Bitewa YB. Cultural Beliefs and Traditional Practices During Pregnancy, Child Birth, and the Postpartum Period in East Gojjam Zone, Northwest Ethiopia: A Qualitative Study. Womens Health Rep (New Rochelle). 2023 Aug 16;4(1):415-422. doi: 10.1089/whr.2023.0024. PMID: 37645589; PMCID: PMC10460962)\u003c/li\u003e\n\u003cli\u003eStone M.B., Botto L.D., Feldkamp M.L., Smith K.R., Roling L., Yamashiro D., Alder S.C. Improving quality of life of children with oral clefts. J. Craniofacial Surg. 2010; 21:1359\u0026ndash;1361. [PubMed]).\u003c/li\u003e\n\u003cli\u003eMinistry of Health. (2010). Guidelines on maternal nutrition in Uganda (1st ed.). Ministry of Health, Uganda.\u003c/li\u003e\n\u003cli\u003eUganda Nutrition Action Plan II 2020/21-2024/25. \u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-public-health","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"pubh","sideBox":"Learn more about [BMC Public Health](http://bmcpublichealth.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/pubh/default.aspx","title":"BMC Public Health","twitterHandle":"@BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Birth defects, Mothers, healthcare workers, Community health extension workers","lastPublishedDoi":"10.21203/rs.3.rs-7399327/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7399327/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eSince 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.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMethods\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe 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).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe 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.\u003c/p\u003e\n\u003cp\u003eAwareness, 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.\u003c/p\u003e\n\u003cp\u003eRegarding 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.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis 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.\u003c/p\u003e","manuscriptTitle":"Perceptions, Experiences, and Meanings of Externally Visible Birth Defects: Insights from Mothers, Healthcare Workers, and Community Health Extension Workers in Uganda","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-09-26 12:43:21","doi":"10.21203/rs.3.rs-7399327/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"editorInvitedReview","content":"","date":"2025-09-29T17:41:17+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"285508969025219730799531520592965922727","date":"2025-09-19T14:19:19+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-09-17T14:11:20+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2025-08-20T13:56:32+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-08-19T03:11:51+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-08-19T03:11:30+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Public Health","date":"2025-08-18T11:36:29+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-public-health","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"pubh","sideBox":"Learn more about [BMC Public Health](http://bmcpublichealth.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/pubh/default.aspx","title":"BMC Public Health","twitterHandle":"@BMC_series","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"em","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"a371ec50-a802-4ce7-af94-8d1e4b658826","owner":[],"postedDate":"September 26th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2025-09-26T12:43:21+00:00","versionOfRecord":[],"versionCreatedAt":"2025-09-26 12:43:21","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-7399327","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7399327","identity":"rs-7399327","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}