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Effect of Neonatal Screening for Congenital Heart Disease on Early Detection of Critical Congenital Heart Disease in Nigeria

Abstract

Critical congenital heart disease (CCHD) remains an important cause of neonatal morbidity and mortality and may not be immediately apparent during the early postnatal period. Some newborns with serious cardiac abnormalities may initially appear clinically well, resulting in delayed diagnosis and treatment. Early neonatal screening for congenital heart disease provides an opportunity to identify newborns with suspected cardiac abnormalities before the development of severe symptoms and life-threatening complications. Screening may involve systematic clinical assessment, pulse oximetry, and other appropriate diagnostic approaches, followed by confirmatory echocardiography and specialist evaluation where indicated. In Nigeria, however, limited access to screening equipment, shortage of trained healthcare personnel, inadequate paediatric cardiology services, limited echocardiography capacity, inconsistent screening protocols, and weak referral systems may constrain the effectiveness of neonatal cardiac screening. Against this background, this study investigates the effect of neonatal screening for congenital heart disease on early detection of critical congenital heart disease in Nigeria. The study will be anchored on the Health Systems Framework, Social Ecological Model, and Health Belief Model. The Health Systems Framework emphasizes service delivery, health workforce, medical technologies, health information systems, financing, governance, and accessibility as essential components of effective neonatal screening and congenital heart disease services. The Social Ecological Model emphasizes the influence of individual, family, healthcare facility, community, and policy factors on newborn screening and access to cardiac diagnosis and treatment. The Health Belief Model explains how parents' and healthcare workers' perceptions of the seriousness of congenital heart disease, perceived benefits of screening, perceived barriers, and cues to action may influence acceptance and implementation of neonatal screening. Collectively, these theoretical perspectives provide a suitable framework for explaining how neonatal congenital heart disease screening may influence early detection of CCHD in Nigeria. The study will adopt a quantitative analytical cross-sectional, prospective cohort, or quasi-experimental research design. The study population will comprise newborns delivered or admitted in selected healthcare facilities across Nigeria. A multistage sampling technique will be used to select states, local government areas, healthcare facilities, maternity units, neonatal units, and eligible newborns. Neonatal screening for congenital heart disease will be assessed using indicators such as screening coverage, timing of screening after birth, clinical cardiac examination, pulse oximetry screening where available, availability and functionality of screening equipment, adherence to screening protocols, healthcare-worker training, documentation of screening results, repeat assessment of abnormal findings, and referral arrangements. Early detection of CCHD will be assessed using indicators such as suspected congenital heart disease following screening, abnormal oxygen saturation or clinical findings, timing of identification, echocardiographic confirmation, specialist cardiology assessment, confirmed CCHD diagnosis, referral, and time between initial abnormal screening and diagnostic confirmation. Data will be collected using structured questionnaires, newborn screening registers, pulse oximetry records, neonatal and maternity records, echocardiography reports, referral registers, and hospital medical records. Descriptive statistics will be used to summarize newborn characteristics, screening coverage, screening findings, referral patterns, and CCHD detection outcomes. Inferential statistical techniques, including chi-square tests, t-tests, correlation analysis, and logistic or multiple regression analysis where appropriate, will be used to determine the effect of neonatal congenital heart disease screening on early CCHD detection. Where a quasi-experimental design is adopted, CCHD detection rates before and after implementation of a structured neonatal screening programme may be compared, while relevant newborn and healthcare-facility factors are appropriately controlled. Diagnostic tests will also be conducted to assess the reliability, validity, and robustness of the findings. The study is expected to find that neonatal screening for congenital heart disease has a significant positive effect on the early detection of critical congenital heart disease in Nigeria. Newborns who undergo systematic screening are expected to have a greater likelihood of suspected CCHD being identified before the onset of severe clinical manifestations compared with newborns without access to routine screening. Early detection may facilitate prompt clinical assessment, confirmatory echocardiography, specialist referral, stabilization, and timely treatment or surgical intervention where available. Systematic screening may also identify newborns with critical cardiac abnormalities who do not initially present with obvious clinical symptoms. However, inadequate equipment, insufficient healthcare-worker training, limited access to echocardiography and paediatric cardiology services, inconsistent screening procedures, referral delays, and financial barriers may reduce the effectiveness of neonatal screening programmes. The study therefore expects standardized neonatal screening, combined with timely confirmatory diagnosis and effective referral pathways, to contribute significantly to earlier CCHD detection and improved newborn health outcomes in Nigeria. The study is expected to contribute to the literature on neonatal congenital heart disease screening, critical congenital heart disease, early diagnosis, neonatal screening, congenital cardiac abnormalities, newborn health, paediatric cardiology, neonatal healthcare, and public health in Nigeria. The findings will provide useful information to the Federal Ministry of Health and Social Welfare, National Primary Health Care Development Agency, state ministries of health, hospital administrators, paediatricians, neonatologists, paediatric cardiologists, nurses, midwives, development partners, and policymakers regarding strategies for strengthening neonatal cardiac screening services. The study will also provide evidence-based recommendations for expanding routine neonatal screening for congenital heart disease, improving availability of screening and diagnostic equipment, strengthening healthcare-worker training, standardizing screening and documentation procedures, improving access to echocardiography and specialist cardiac services, strengthening referral and follow-up systems, and integrating congenital heart disease screening into broader newborn and child health programmes across Nigeria.

Keywords: Neonatal screening, congenital heart disease, critical congenital heart disease, CCHD, early detection, newborn screening, pulse oximetry, echocardiography, neonatal health, Nigeria, public health.