Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry.

摘要: Abstract Objective: To assess the feasibility of screening for cholestatic hepatobiliary disease and extrahepatic biliary atresia by using tandem mass spectrometry to measure conjugated bile acids in dried blood spots obtained from newborn infants at 7-10 days age Guthrie test. Setting: Three tertiary referral clinics regional neonatal laboratories. Design: Unused test were retrieved presenting with two cards stored on either side each card an index child. Concentrations measured groups compared. Main outcome measures: glycodihydroxycholanoates, glycotrihydroxycholanoates, taurodihydroxycholanoates, taurotrihydroxycholanoates. Receiver operator curves plotted determine which parameter (or combination parameters) would best predict cases atresia. The sensitivity specificity a selection cut off values acid species total concentrations detection conditions calculated. Results: 218 children eligible inclusion study. Two without final diagnosis five who presented 33 μmol/l (97.5th centile value comparison group). Of 61 atresia, 47 (77%) had >33 Taurotrihydroxycholanoate predictors both conditions. For all disease, level concentration 30 gave 62% 96%, while corresponding 79% 96%. Conclusion: Most present other forms have significantly raised as time when samples are taken Unfortunately separation between these those general population is not sufficient make feasible option this method alone. Key messages prognosis infancy, particular improved early Infants destined jaundice first few months life current programmes Tandem can be used detect marker cholestasis there too much overlap control single powerful tool but every potential application must carefully assessed