Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group

Dig Liver Dis. 2022 Jan;54(1):40-53. doi: 10.1016/j.dld.2021.09.011. Epub 2021 Oct 20.


Neonatal and infantile cholestasis (NIC) can represent the onset of a surgically correctable disease and of a genetic or metabolic disorder worthy of medical treatment. Timely recognition of NIC and identification of the underlying etiology are paramount to improve outcomes. Upon invitation by the Italian National Institute of Health (ISS), an expert working grouped was formed to formulate evidence-based positions on current knowledge about the diagnosis of NIC. A systematic literature search was conducted to collect evidence about epidemiology, etiology, clinical aspects and accuracy of available diagnostic tests in NIC. Evidence was scored using the GRADE system. All recommendations were approved by a panel of experts upon agreement of at least 75% of the members. The final document was approved by all the panel components. This position document summarizes the collected statements and defines the best-evidence diagnostic approach to cholestasis in the first year of life.

Keywords: Alagille syndrome; Biliary atresia; Diagnosis; Genetic liver disease; Inborn errors of metabolism; Jaundice; Monogenic liver disease; Newborn.

Publication types

  • Systematic Review

MeSH terms

  • Cholestasis*
  • Evidence-Based Medicine*
  • Female
  • Gastroenterology / standards*
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases*
  • Male
  • Practice Guidelines as Topic*