Evaluation of the diagnostic process in neonates with conjugated hyperbilirubinaemia

Area of Science:

• Neonatal Medicine
• Pediatric Gastroenterology
• Clinical Diagnostics

Background:

• Prolonged infant jaundice requires diagnostic evaluation per Danish Health Authority (DHA) guidelines.
• A serum conjugated bilirubin (CB) threshold of ≥ 17 μmol/l is recommended for investigation.
• This study evaluated the DHA's screening program for biliary atresia (BA) and other liver diseases in infants.

Purpose of the Study:

• To assess the efficacy of the DHA's recommended CB threshold in identifying infants with biliary atresia (BA) or other liver diseases.
• To evaluate the diagnostic yield and potential for over-investigation associated with the current screening protocol.

Main Methods:

• Retrospective review of medical records for 693 infants born in the Central Denmark Region (2016-2021).
• Data collected included serum conjugated bilirubin (CB) levels, diagnostic procedures, and final diagnoses.
• Analysis focused on infants diagnosed with BA, other cholestatic diseases, and those with spontaneous recovery.

Main Results:

• All four infants with biliary atresia (BA) had elevated mean CB levels (105 μmol/l).
• Thirty-three infants with other cholestatic diseases had a mean CB of 58.9 μmol/l.
• The majority (656) of infants showed spontaneous recovery with a mean CB of 20.5 μmol/l; 75% of HIDA scans were performed on infants with CB < 30 μmol/l.

Conclusions:

• The recommended CB threshold of ≥ 17 μmol/l successfully identified all infants with biliary atresia (BA).
• However, the current threshold leads to significant over-investigation and over-diagnosis of neonatal liver conditions.
• Refinement of screening criteria may be necessary to improve diagnostic specificity and reduce unnecessary procedures.