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Updated: Nov 13, 2025
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Role of percutaneous liver biopsy in infantile cholestasis: cohort from Arabs
Amna Basheer M Ahmed1, Musa Ahmad Fagih2, Muhammed Salman Bashir3
1The Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City, P. O. Box 59046, Riyadh, Postal Code 11525, Kingdom of Saudi Arabia.
Insights
Liver biopsy (LB) is crucial for diagnosing infantile cholestasis (IC) with high suspicion of biliary atresia (BA). However, its diagnostic yield is low in low-suspicion cases, suggesting a need for alternative methods like gene panels.
Area of Science:
- Pediatric Hepatology
- Diagnostic Pathology
Background:
- Infantile cholestasis (IC) evaluation is evolving with new non-invasive technologies.
- There is a global call to re-evaluate the role of liver biopsy (LB) in diagnosing IC.
- This study examines the impact of LB on IC diagnosis and management in an Arab cohort.
Purpose of the Study:
- To determine the diagnostic and management impact of liver biopsy in infantile cholestasis.
- To assess the utility of liver biopsy in cases with varying levels of suspicion for biliary atresia.
Main Methods:
- Retrospective analysis of 533 infantile cholestasis cases from 2007-2019.
- Inclusion of 122 infants who underwent liver biopsy.
- Categorization of liver biopsy yield into specific diagnosis or exclusion of important diagnoses.
Main Results:
- Liver biopsy showed a sensitivity of 86.4% and specificity of 66.7% for diagnosing biliary atresia (BA) in high-suspicion cases.
- LB directly impacted clinical management in 42.6% of cases, including avoiding surgery.
- Molecular testing confirmed diagnoses in 63% of cases, outperforming LB in low-suspicion scenarios.
Conclusions:
- Liver biopsy remains valuable for diagnosing infantile cholestasis with high suspicion of biliary atresia.
- The low yield of LB in low-suspicion cases warrants re-evaluation.
- Early integration of cholestasis gene panels may improve diagnostic yield in select cases.
Background:
Investigators from different parts of the world are calling for a re-evaluation of the role of liver biopsy (LB) in the evaluation of infantile cholestasis (IC), especially in the light of emerging non-invasive diagnostic technologies. Therefore, this retrospective single-center study was conducted to determine the impact of LB on the diagnosis and management of IC in a cohort from Arabs.
Methods:
From 2007 until 2019, 533 cases of IC were referred for evaluation. All infants who underwent LB were included in the study. We categorized the yield of LB into: (1) defined specific diagnosis; (2) excluded an important diagnosis. A single pathologist reviewed and made the histology report.
Results:
122 LB specimens met the inclusion criteria. The main indication for LB was a high suspicion of biliary atresia (BA) [high gamma-glutamyl transferase (GGT) cholestasis and pale stool] in 46 cases (37.8%). Liver biopsy had sensitivity of 86.4%, specificity (66.7%), PPV (70.4%), NPV (84.2%) in diagnosing BA. LB had a direct impact on clinical management in 52 cases (42.6%): (1) The true diagnosis was suggested by LB in 36 cases; (2) LB excluded BA and avoided intraoperative cholangiogram in 16 cases with high suspicion of BA. Among the 76 cases with low suspicion of BA, LB suggested the true diagnosis or helped to initiate specific management in 8 cases only (10.5%). In contrast, molecular testing confirmed the diagnosis in 48 (63%).
Conclusion:
LB continues to be an important tool in the workup of cases with a high suspicion of BA. The low yield of LB in cases with low suspicion of BA calls for a re-evaluation of its role in these cases in whom early incorporation of cholestasis sequencing gene panels can have a better diagnostic yield.
