Feasibility of biliary atresia newborn screening in an integrated health network

Diagnostic delay remains a barrier to improving biliary atresia (BA) outcomes. We tested the implementation feasibility of a two stage BA newborn screening program in an integrated healthcare system.

Under a waiver of consent, we measured direct bilirubin (DB) levels in well newborns undergoing standard of care hyperbilirubinemia screening at four hospitals. Initial DB was measured by modifying nursery admission electronic medical record order sets. Second-stage DB was obtained at ~2 weeks of age under parental permission/informed consent (PP/IC). Implementation measures included the proportions of (1) eligible newborns that were screened before nursery discharge, (2) newborns undergoing second stage screening at ~2 weeks of age, and (3) newborns that underwent clinical evaluation for persistently elevated DB.

A total of 12,276 newborns met eligibility criteria for screening, of which 12,055 (98.2%) underwent first-stage screening in the newborn nursery. Ninety-four (0.78%) had elevated positive initial screens. Ninety newborns (95.7%) underwent second-stage screening (n = 20) or contact was made with the primary care provider to recommend second-stage screening (n = 70). Among all screened newborns, 15 (0.12%) had abnormal second screens. All had follow-up clinical evaluation for potential cholestatic liver disease. No BA cases were identified through screening, though two infants who met exclusion criteria (admission to the newborn intensive care unit) were subsequently diagnosed with BA during the screening period.

BA newborn screening is feasible in an integrated health network. Low consent rates have implications for future studies. Program infrastructure is required for implementation success and sustainability.