Ultrasonographic and serum biomarkers for diagnosis of biliary atresia

PURPOSE: Biliary atresia (BA) is the main cause of neonatal cholestasis and the leading indication for pediatric liver transplantation. Early diagnosis is essential for timely intervention and improved outcomes. This study evaluated accessible biomarkers for the diagnosis of BA, including serum gamma-glutamyl transferase (GGT) and ultrasonographic (US) parameters. METHODS: This retrospective study included infants with suspected BA treated between 2014 and 2024, at a tertiary pediatric center in Brazil. Serum GGT levels and US parameters were analyzed and the diagnosis was confirmed by surgical findings. Diagnostic accuracy was assessed using a ROC curve and logistic regression. RESULTS: Sixty-seven infants were included, of whom 45 (67.2%) had confirmed BA. Median serum GGT levels were higher in BA cases (607 U/L) than in non-BA cases (243 U/L). ROC analysis identified a cutoff value of 311 U/L, with a sensitivity of 82.2% and specificity of 68.2%. US parameters were present in all BA cases, with 100% sensitivity and 86% specificity (p < 0.001). Combining GGT with abnormal US findings increased specificity to 95.5%. CONCLUSION: Ultrasonographic parameters alone, as well as their combination with elevated serum GGT levels, demonstrated high diagnostic value for identification of biliary atresia in infants with neonatal cholestasis.