WOFAPS 2025 8th World Congress of Pediatric Surgery

Huimin Xia

Guangzhou Women and Children's Medical Center,Guangzhou Medical University

Purpose
Birth cohort studies are vital tools for investigating structural birth defects (SBDs). This study systematically examines the clinical significance of birth cohort studies, emphasizing their potential to uncover etiological factors, early biomarkers, and preventive measures. Hirschsprung disease (HSCR) is highlighted as an illustrative example.

Method
We conducted a systematic study on birth cohort studies investigating SBDs, with particular attention to HSCR. We assessed study designs, participant recruitment, longitudinal follow-up procedures, and outcomes measurement. Special focus was placed on methodological strengths, limitations, and application to HSCR research.

Results
Birth cohort studies effectively identify prospective associations between genetic, epigenetic, and environmental factors and the occurrence of SBDs, exemplified by HSCR. These studies reveal critical early-life biomarkers and risk factors, clarifying their temporal relationships to HSCR. Birth cohorts also facilitate investigation of developmental trajectories and long-term clinical outcomes in HSCR patients. However, these studies face significant challenges, including participant retention difficulties, logistical complexity, substantial resource demands, and ethical concerns.

Conclusion
Birth cohort studies are indispensable for elucidating the complex etiology and natural history of SBDs, as demonstrated in HSCR. Despite methodological challenges, incorporating birth cohorts into clinical research significantly advances early diagnosis, preventive strategies, and targeted clinical management, ultimately improving long-term outcomes in HSCR and other structural birth defects.