Emerging diagnostic strategies in neonatal cholestasis: toward earlier and more accurate identification of biliary atresia.

PURPOSE OF REVIEW: Timely diagnosis of biliary atresia remains critical in infants with neonatal cholestasis, as delays in recognition are associated with reduced native liver survival and poorer outcomes following hepatoportoenterostomy. However, distinguishing biliary atresia from other causes of neonatal cholestasis remains challenging because of overlapping clinical, laboratory, and imaging features. This review highlights emerging diagnostic strategies aimed at improving earlier and more accurate identification of biliary atresia. RECENT FINDINGS: Recent advances include development of serum biomarkers such as matrix metalloproteinase-7 (MMP-7), expanded use of next-generation sequencing for genetic cholestatic disorders, and refinements in ultrasonographic evaluation including hepatic subcapsular flow and artificial intelligence-assisted image interpretation. Additional investigational approaches include elastography, advanced magnetic resonance imaging techniques, and minimally invasive cholangiographic methods. SUMMARY: Emerging diagnostic tools are reshaping the evaluation of neonatal cholestasis and may improve differentiation of biliary atresia from other hepatobiliary disorders while reducing diagnostic delays and reliance on invasive procedures. Integration of biomarkers, molecular diagnostics, and advanced imaging into standardized clinical pathways may facilitate earlier intervention and improve outcomes, although multicenter validation and equitable implementation remain important priorities.