title: Expanded newborn screening by mass spectrometry: New tests, future perspectives.
abstract: Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide. Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy. The new challenge for the future will be reducing the false positive rate by using second-tier tests, avoiding false negative results by using new specific biomarkers and introducing new treatable disorders in NBS programs.
authors.affiliation: Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.|Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Viale Pieraccini 6, Florence, 50139, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Ombrone
authors.affiliation: Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Giocaliere
authors.affiliation: Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Forni
authors.affiliation: Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.affiliation: Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.|Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Viale Pieraccini 6, Florence, 50139, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000517:prevention & control; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000517:prevention & control; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000175:diagnosis / Q000517:prevention & control; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000517:prevention & control; D013058:Mass Spectrometry / Q000379:methods*; D009069:Movement Disorders / Q000151:congenital / Q000175:diagnosis / Q000517:prevention & control; D015997:Neonatal Screening / Q000379:methods*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000517:prevention & control; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D050937:Guanidinoacetate N-Methyltransferase
keywords: aevere combined immunodeficiences; dried blood spot; lysosomal storage disorders; newborn screening; tandem mass spectrometry