Sacral Agenesis Through a Preventive Medicine Lens: Maternal Risk, Early Detection, and Lifelong Health Implications

Abstract

Sacral agenesis, a rare congenital malformation within the caudal regression spectrum, is characterized by partial or complete absence of the sacrum and is frequently accompanied by multisystem involvement affecting neurologic, orthopedic, urologic, and gastrointestinal function. Despite its low incidence, sacral agenesis is associated with substantial lifelong morbidity and healthcare utilization, underscoring its relevance beyond rarity alone. Robust epidemiologic evidence demonstrates a strong association between maternal pregestational diabetes and sacral agenesis, identifying a modifiable risk factor that places this condition squarely within the domain of preventive medicine. Advances in prenatal imaging allow for antenatal detection, yet disparities in access and delayed diagnosis limit opportunities for anticipatory care and complication prevention. This editorial argues for reframing sacral agenesis as a preventable and risk-modifiable condition through improved preconception metabolic health, equitable prenatal screening, and coordinated lifelong care. Viewing sacral agenesis through a preventive medicine lens highlights actionable strategies to reduce avoidable morbidity and advance health equity for affected individuals and families.