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Accuracy of newborn screening for biliary atresia using direct or conjugated bilirubin measurements

JAMA Mar 27, 2020

Harpavat S, Garcia-Prats JA, Anaya C, et al. - This study was attempted to ascertain the diagnostic yield of newborn screening for biliary atresia with direct or conjugated bilirubin assessments and to analyze the correlation of screening implementation with clinical outcomes. Researchers performed a cross-sectional screening study including a total of 124,385 infants born at 14 Texas hospitals between January 2015 and June 2018; and a pre-post study of 43 infants who underwent the Kasai portoenterostomy as treatment for biliary atresia at the region’s largest pediatric hepatology center before (January 2008-June 2011) or after (January 2015-June 2018) screening implementation. The sensitivity, specificity, positive predictive value, and negative predictive value based on infants testing positive in both stages were the primary endpoints. The age infants underwent the Kasai portoenterostomy for treatment of biliary atresia was considered as a primary endpoint of the pre-post study. While the 95% CI around the sensitivity estimate was wide and the study design did not ensure complete ascertainment of false-negative results, newborn screening with direct or conjugated bilirubin measurements detected all known infants with biliary atresia in the study population. To obtain more precise estimates of diagnostic yield and to better understand the clinical results and cost-effectiveness of this screening method, a larger population study is required.

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