Bridging the Global Divide in Congenital Disorder Surveillance and Epidemiology: Perspectives and Lessons from Low-Resource Settings

Congenital disorders (also known as birth defects) are a major, but under-recognised contributor to global mortality and disability, particularly in low-resource settings. Limitations in data availability and quality, and gaps in epidemiological research, challenge our understanding of the burden, etiology, and resource allocation associated with these conditions.
A fundamental challenge underpinning this global gap needs to be addressed. In many low-resource settings, constraints in clinical expertise, laboratory infrastructure, diagnostic capacity, and referral systems lead to substantial under-diagnosis. Consequently, surveillance systems capture only a fraction of the true burden, reinforcing cycles of under-recognition and under-prioritisation. Additionally, few systems have the capability to pursue context-specific epidemiological research examining the risk factors for congenital disorders.
Constraints have also driven innovation. Some countries with resource constraints are developing adaptive, resource-efficient approaches to diagnosis, surveillance, and modelling of congenital disorder burden, and bringing to the forefront populations that have historically remained outside our understanding of birth defects epidemiology.

This Research Topic addresses the persistent challenges in implementing effective surveillance of congenital disorders in low-resource settings, including limited diagnostic capacity, fragmented surveillance systems, and difficulties in generating reliable burden estimates. Achieving an accurate understanding of the disease burden is essential to inform appropriate health system responses, guide resource allocation, and ensure that affected individuals receive timely and equitable access to prevention, clinical care, and other services. It aims to bring together contributions that examine practical approaches to strengthening surveillance, alongside epidemiological research emerging from resource-constrained contexts.
By consolidating methodological insights and real-world experiences, this collection seeks to identify feasible, context-appropriate strategies to improve data availability, quality, and use. It aims to support more accurate burden estimation and inform policy and health system responses. Ultimately, the Research Topic will contribute to advancing prevention, improving access to clinical care, and strengthening associated services for populations affected by congenital disorders.

This Research Topic will explore inequities in congenital disorder surveillance and epidemiological research, particularly in low-resource settings, with a focus on underlying drivers, methodological challenges, and innovative, context-specific solutions. We invite submissions addressing the following themes:
o Structural and systemic drivers of gaps in surveillance
o Diagnostic capacity, workforce, referral pathways, and access to genetic services
o Laboratory and genomic infrastructure in resource-constrained settings
o Surveillance models including population-based, facility-based, and hybrid approaches, and their integration into routine health information systems
o Data quality, completeness, and governance challenges
o Methodological approaches to estimating total prevalence and burden in data-scarce settings
o Epidemiological research on risk factors in under-studied populations
o Innovative, context-specific solutions to improve data availability, quality, and use
o Policy, governance, and equity considerations

We welcome original research, methodological papers, reviews, and policy or perspective articles with clear relevance to health systems and equity.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Classification
• Clinical Trial
• Community Case Study
• Conceptual Analysis
• Curriculum, Instruction, and Pedagogy
• Data Report
• Editorial
• FAIR² Data
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Classification
• Clinical Trial
• Community Case Study
• Conceptual Analysis
• Curriculum, Instruction, and Pedagogy
• Data Report
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Policy Brief
• Registered Report
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Congenital disorders; birth defects; surveillance; burden estimation; modelling; epidemiology; risk factors; diagnostic capacity; LMIC; global health; health systems; equity

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.