The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

•A new method for inclusion of ADA-SCID in newborn screening program is proposed.•The method requires a minimized preparation process and very low running costs.•The effectiveness of the test was checked by testing DBS from 9 ADA-SCID patients.•A second tier test to improve the positive predictive v...

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Bibliographic Details
Published in:Journal of pharmaceutical and biomedical analysis 2014-01, Vol.88, p.201-206
Main Authors: la Marca, Giancarlo, Giocaliere, Elisa, Malvagia, Sabrina, Funghini, Silvia, Ombrone, Daniela, Della Bona, Maria Luisa, Canessa, Clementina, Lippi, Francesca, Romano, Francesca, Guerrini, Renzo, Resti, Massimo, Azzari, Chiara
Format: Article
Language:English
Subjects:
ADA-SCID
Adenosine Deaminase - blood
Adenosine-deaminase defect
Calibration
Dried Blood Spot Testing
Expanded newborn screening
Humans
Infant, Newborn
LC–MS/MS
Neonatal Screening - methods
Pilot Projects
Predictive Value of Tests
Reference Values
Reproducibility of Results
Retrospective Studies
Second tier test
Severe Combined Immunodeficiency - blood
Severe Combined Immunodeficiency - diagnosis
Tandem Mass Spectrometry
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Summary:•A new method for inclusion of ADA-SCID in newborn screening program is proposed.•The method requires a minimized preparation process and very low running costs.•The effectiveness of the test was checked by testing DBS from 9 ADA-SCID patients.•A second tier test to improve the positive predictive value is developed. Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program. We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine
ISSN:0731-7085
1873-264X
DOI:10.1016/j.jpba.2013.08.044