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 of age for the Guthrie test Setting Three tertiary referral clinics and regional neonatal screening laboratories.
Design Unused blood spots from the Guthrie test were retrieved for infants presenting with cholestatic hepatobiliary disease and from the two cards stored on either side of each card from an index child.
Concentrations of conjugated bile acids measured by tandem mass spectrometry in the two groups were compared.
Main outcome measures Concentrations of glycodihydroxycholanoates, glycotrihydroxycholanoates, taurodihydroxycholanoates, and taurotrihydroxycholanoates.
Receiver operator curves were plotted to determine which parameter (or combination of parameters) would best predict the cases of cholestatic hepatobiliary disease and extrahepatic biliary atresia.
The sensitivity and specificity at a selection of cut off values for each bile acid species and for total bile acid concentrations for the detection of the two conditions were calculated.
Results 218 children with cholestatic hepatobiliary disease were eligible for inclusion in the study.
Two children without a final diagnosis and five who presented at<14 days of age were excluded. (...)
Mots-clés Pascal : Cholostase, Foie, Voie biliaire, Atrésie, Spectrométrie masse tandem, Acide biliaire conjugué, Sang, Diagnostic, Précoce, Dépistage, Test Guthrie, Technique, Evaluation performance, Faisabilité, Nouveau né, Homme, Angleterre, Grande Bretagne, Royaume Uni, Europe, Appareil digestif pathologie, Voie biliaire pathologie, Foie pathologie, Maladie congénitale, Malformation
Mots-clés Pascal anglais : Cholostasis, Liver, Biliary tract, Atresia, Mass spectrometry MS/MS, Bile acid conjugate, Blood, Diagnosis, Early, Medical screening, Guthrie test, Technique, Performance evaluation, Feasibility, Newborn, Human, England, Great Britain, United Kingdom, Europe, Digestive diseases, Biliary tract disease, Hepatic disease, Congenital disease, Malformation
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0450097
Code Inist : 002B13C02. Création : 22/03/2000.