European strategies in the screening of biliary atresia: a scoping review

Biliary atresia (BA) is a rare condition that meets the criteria for neonatal screening. Taiwan province of China led the way in BA screening during the 1990s by introducing a neonatal stool color card (SCC), which proved effective in facilitating early BA diagnosis and improving outcomes. Another commonly studied BA screening approach is serum bilirubin measurement. Several European countries have also begun implementing BA screening initiatives, although slowly. In this study, we evaluate BA screening strategies across Europe.

Published data, after having performed a scoping review, as well as internet searches were analyzed. Screening approaches proposed in Europe are described, including SCC, serum bilirubin measurements, and other biochemical markers such as bile acids or amino acid profiles.

In Europe, national BA screening programs have been established solely in Switzerland, France, and Germany, all using the SCC. Other European countries, such as the Netherlands, Portugal, and Italy, have made efforts, but have yet to achieve broad implementation beyond localized initiatives. Skepticism among healthcare professionals and logistical challenges seem to hinder broader adoption. Emerging technologies, such as artificial intelligence-enhanced SCC applications, may show promise in overcoming these barriers. Serum bilirubin measurement is another widely deliberated method, particularly in the UK, where it has been shown to be sensitive and specific for BA detection. However, logistical and financial limitations remain key obstacles to its widespread use. Other biochemical methods, such as bile acid and amino acid profiling, have shown potential in research settings, but lack clinical translation in Europe.

This review highlights Europe's limited role in global BA screening efforts and emphasizes the need for advocacy, collaboration, and integration of screening strategies tailored to regional healthcare systems. Combining the SCC with bilirubin measurements could optimize cost-effectiveness and efficiency. Expanding BA screening programs requires strengthening advocacy efforts to improve outcomes for affected infants.