Our Research

OBJECTIVE: To determine the incremental risks of mortality and major neonatal morbidities associated with congenital heart disease (CHD) beyond prematurity alone.

STUDY DESIGN: Secondary analysis of two North American neonatal registries (2010-2022) including infants <35 weeks' gestation: 11,221 with CHD from the Children's Hospitals Neonatal Consortium and 720,846 without CHD from the Vermont Oxford Network. The primary outcome was in-hospital mortality. Secondary outcomes were major neonatal morbidities.

RESULTS: Preterm infants with CHD had fourfold higher odds of in-hospital mortality (OR 4.0, 95% CI 3.76-4.21). Mortality was similar at ≤26 weeks' gestation, but the relative impact of CHD increased with advancing gestational age. CHD was associated with significantly increased risks of severe bronchopulmonary dysplasia, intraventricular hemorrhage, and necrotizing enterocolitis.

CONCLUSION: The impact of CHD on mortality is gestational age dependent, with prematurity predominating at the lowest gestational ages and CHD increasingly driving mortality as gestational maturity improves.

Folate deficiency is associated with increased risk of conotruncal heart defects (CTHD), but its interaction with genetic factors remains unclear. Our objective was to investigate genome-wide associations between common genetic variants and birth before versus after universal folic acid fortification among children with CTHD and other heart defects. Sequencing data were available through the Pediatric Cardiac Genomics Consortium, aligned to the human reference genome (GRCh38/hg38), and jointly processed to ensure uniform variant detection and minimize batch effects. Analyses were restricted to individuals with European-inferred genetic ancestry, limiting generalizability to other ancestral groups. Genome-wide association study (GWAS) models compared allele frequencies across fortification eras among all participants (n = 1285), the subset with CTHD (n = 534), and the remaining individuals with other heart defects (n = 751). Functional enrichment was assessed using the Database for Annotation, Visualization and Integrated Discovery (DAVID). Among the full analytic group, eight loci had at least two suggestive variants before compared to after fortification. Among the subset with CTHD, two variants located in DHRS3 (rs7551703, odds ratio [OR] 2.10, and rs6541043, OR 2.21) and four variants located in PPARGC1B showed suggestive association after fortification (OR 4.47-4.51). Enriched biological pathway terms were consistent with cardiac developmental processes. In summary, this study examined the association between folic acid fortification and genetic risk for CTHD and other heart defects and identified associations with fortification era that suggest some shift in risk following fortification. Identified pathways suggest gene-nutrient interactions may modulate cardiac developmental pathways, underscoring the relationship between maternal folate status and cardiovascular development.

The first 1,000 days of brain development are sensitive to nutrient availability, and large longitudinal early-life cohorts provide an opportunity to study early nutritional influences on neurodevelopment in generally healthy populations. We aimed to identify international pregnancy and birth cohorts with at least 1,000 children collecting early-life nutrition data, including maternal nutrition during pregnancy or lactation, breastfeeding, and solid-food feeding, along with later child neurodevelopmental outcomes. In total, 104 pregnancy and birth cohorts were identified, representing over 1.17 million children across 41 countries. Cohorts spanned six continents, with the largest participant representation from high- and upper middle-income settings. Maternal diet during pregnancy and breastfeeding status were the most frequently captured nutrition domains, while neurodevelopmental assessments varied across developmental periods, using over 200 assessment tools. These cohorts support future harmonized analyses of early nutrition and neurodevelopment, and further work will benefit from international collaboration, shared data standards, and pooled or federated infrastructures.

With dramatic advancements in biological data generation, genetic rescue and reproductive technologies, and inter-institutional coordination of care across entire animal populations, zoos, aquariums, and their collaborators are uniquely positioned to lead population-wide research benefiting animal wellbeing and species survival. However, procedural and inter-institutional barriers make it exceedingly difficult to access existing zoological biospecimens and data at scale. To address this, the Zoonomics Working Group, representing diverse roles across three zoological associations (AZA, EAZA, WAZA), proposes a biodiversity biobank alliance that develops and delivers shared resources to support the collection, storage, and sharing of biological samples and associated data across the zoological and conservation community. By biobank alliance, we mean a community-guided effort that develops shared resources, standards, ethos, and practices for collecting, storing, and sharing biological samples and associated data voluntarily through transparent processes, consistent with professional accreditation standards and international best practices. While initially focused on addressing the needs and regulatory landscape of U.S. institutions, the alliance is designed to create frameworks that are adaptable and adoptable for international expansion. Such a framework would help the zoological community navigate the ethical, legal, and practical challenges of managing biospecimen collections, making access more efficient, reliable, and robust. Achieving this vision requires collective agreement on ethical principles such as reciprocity, transparency, and data stewardship, ensuring that research is both feasible and proactively supported. Such coordination will drive advances in fundamental biology and accelerate progress in animal health, welfare, management, and biodiversity conservation.