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Impact of Newborn Blood Spot Screening on Congenital Hypothyroidism Detection among Newborns in Nigeria

Abstract

Congenital hypothyroidism is an important neonatal health condition that can result in impaired growth and neurodevelopment when not detected and treated promptly. Because affected newborns may show few or nonspecific clinical signs during the early neonatal period, reliance on clinical symptoms alone may result in delayed detection. Newborn blood spot screening provides an opportunity to identify congenital hypothyroidism shortly after birth through the collection and laboratory analysis of a small blood sample, followed by appropriate confirmatory testing and clinical evaluation for infants with abnormal screening results. Early detection and timely treatment can substantially reduce the risk of preventable developmental complications and improve long-term health outcomes. However, implementation of newborn screening in Nigeria may be affected by limited screening coverage, inadequate laboratory capacity, shortages of trained personnel, cost of testing, challenges in sample collection and transportation, limited parental awareness, and weak systems for communicating results and ensuring follow-up. Against this background, this study investigates the impact of newborn blood spot screening on congenital hypothyroidism detection among newborns in Nigeria. The study will be anchored on the Health Belief Model, the Health Systems Framework, and the Social Ecological Model. The Health Belief Model explains how parents' perceptions of the susceptibility and severity of congenital hypothyroidism, perceived benefits of newborn screening, perceived barriers, and cues to action may influence participation in newborn screening programmes. The Health Systems Framework emphasizes service delivery, health workforce, health information systems, medical products and technologies, financing, and accessibility as essential components of an effective newborn screening programme. The Social Ecological Model emphasizes the influence of parental, household, healthcare, community, and broader social factors on newborn screening participation and follow-up. Collectively, these theoretical perspectives provide a suitable framework for explaining how newborn blood spot screening may influence congenital hypothyroidism detection in Nigeria. The study will adopt a quantitative cross-sectional analytical or quasi-experimental research design. The study population will comprise newborns delivered in selected public and private hospitals, maternity centres, and other recognized health facilities across Nigeria. A multistage sampling technique will be used to select states, local government areas, healthcare facilities, and eligible newborns. Newborn blood spot screening will be measured using indicators such as screening availability, screening coverage, timing of sample collection, adequacy of blood spot samples, laboratory processing, availability of trained screening personnel, sample transportation, turnaround time for results, parental awareness, and communication of screening results. Congenital hypothyroidism detection will be assessed using indicators such as abnormal thyroid-stimulating hormone or other appropriate screening results, suspected congenital hypothyroidism identified through screening, repeat testing, confirmatory laboratory assessment, newly detected cases, time from screening to diagnosis, referral for specialist assessment, and linkage to appropriate treatment and follow-up. Data will be collected using structured questionnaires, newborn screening registers, laboratory records, medical records, referral registers, and relevant neonatal health programme documents. Descriptive statistics will be used to summarize newborn characteristics, screening coverage, screening results, and patterns of congenital hypothyroidism detection. Inferential statistical techniques, including chi-square tests, correlation analysis, and logistic or multiple regression analysis, will be used to determine the impact of newborn blood spot screening on congenital hypothyroidism detection. Where appropriate, detection rates before and after implementation or expansion of newborn blood spot screening may be compared to determine changes associated with the screening programme. Diagnostic tests will also be conducted to assess the reliability, validity, and robustness of the findings. The study is expected to find that newborn blood spot screening has a significant positive impact on congenital hypothyroidism detection among newborns in Nigeria. Newborns who undergo blood spot screening are expected to have a greater likelihood of congenital hypothyroidism being identified before clinical manifestations become apparent compared with newborns without access to systematic screening. Routine screening may facilitate earlier identification of affected newborns, prompt confirmatory testing, specialist referral, and timely initiation of appropriate treatment. Early detection may reduce the likelihood of preventable neurodevelopmental and growth-related complications associated with untreated congenital hypothyroidism. Expansion of newborn screening may also improve parental awareness of neonatal health conditions and strengthen systems for early referral and follow-up. Conversely, inadequate screening coverage, delayed sample collection, poor-quality samples, limited laboratory capacity, transportation difficulties, shortage of trained personnel, financial constraints, delayed reporting of results, and weak follow-up mechanisms may reduce the effectiveness of newborn blood spot screening. The study therefore expects accessible and well-organized newborn blood spot screening to contribute significantly to improved detection and early management of congenital hypothyroidism in Nigeria. The study is expected to contribute to the literature on newborn blood spot screening, congenital hypothyroidism detection, neonatal health, newborn screening, early diagnosis, child health, preventive 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, hospitals, maternity facilities, paediatricians, endocrinologists, laboratory scientists, neonatal health programmes, development partners, and policymakers regarding strategies for strengthening newborn screening services. The study will also provide evidence-based recommendations for expanding newborn blood spot screening coverage, improving the availability and quality of screening laboratories, strengthening training of healthcare and laboratory personnel, improving sample collection and transportation systems, reducing delays in laboratory processing and result communication, increasing parental awareness, strengthening confirmatory testing and referral systems, and ensuring timely linkage of affected newborns to appropriate treatment and long-term follow-up across Nigeria.

Keywords: Newborn blood spot screening, congenital hypothyroidism detection, newborns, neonatal screening, thyroid disorders, early diagnosis, newborn health, preventive healthcare, child health, Nigeria, public health.