POPULATION SCREENING FOR NEONATAL LIVER-DISEASE - A FEASIBILITY STUDY

Background: Extra-hepatic biliary atresia and several other causes of neonatal liver disease carry high mortality and morbidity rates, espec ially if not treated early in life. Despite professional recommendatio ns, delayed referral of infants with prolonged jaundice continues to b e a significant problem. One approach to reducing the age of referral and diagnosis is population screening to detect significant conjugated hyperbilirubinaemia as an index of liver dysfunction. Methods: To inv estigate this possibility, and to provide reference data on bilirubin and its conjugated and unconjugated fractions in a normal newborn popu lation, 1157 neonates were anonymously tested (median age 7 days, rang e 4-28 days) using surplus plasma from routinely collected neonatal sc reening specimens, using dry slide chemistry. Results: Of 2310 specime ns received, 50% were suitable for analysis. The remainder were either haemolysed or insufficient (10% and 40% of the total, respectively). Total bilirubin concentrations ranged from 9 to 428 mu mol/l and conju gated bilirubin from 0 to 175 mu mol/l, although the latter was rarely increased to more than 30 mu mol/l (2.5th-97.5th percentile ranges 15 -285 mu mol/l and 0-18 mu mol/l, respectively). The range of the perce ntage of conjugated bilirubin was 0-57% (2.5th-97.5th percentile; rang e 0-20%). Conclusion: An increased conjugated bilirubin, expressed as a concentration or as the percentage of the total bilirubin, could be used as a specific marker to screen for liver dysfunction in neonates. This approach has the potential to improve the age of referral and th e prognosis of infants with neonatal liver disease.