TY - JOUR
T1 - The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
AU - la Marca, Giancarlo
AU - Giocaliere, Elisa
AU - Malvagia, Sabrina
AU - Funghini, Silvia
AU - Ombrone, Daniela
AU - Della Bona, Maria Luisa
AU - Canessa, Clementina
AU - Lippi, Francesca
AU - Romano, Francesca
AU - Guerrini, Renzo
AU - Resti, Massimo
AU - Azzari, Chiara
PY - 2014/1/25
Y1 - 2014/1/25
N2 - 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
AB - 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
KW - ADA-SCID
KW - Adenosine-deaminase defect
KW - Expanded newborn screening
KW - LC-MS/MS
KW - Second tier test
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U2 - 10.1016/j.jpba.2013.08.044
DO - 10.1016/j.jpba.2013.08.044
M3 - Article
C2 - 24076575
AN - SCOPUS:84884557504
VL - 88
SP - 201
EP - 206
JO - Journal of Pharmaceutical and Biomedical Analysis
JF - Journal of Pharmaceutical and Biomedical Analysis
SN - 0731-7085
ER -