Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories

被引：22

作者：

Gelb, Michael H. ^{[1
,2
]}

Basheeruddin, Khaja ^{[3
]}

Burlina, Alberto ^{[4
]}

Chen, Hsiao-Jan ^{[5
]}

Chien, Yin-Hsiu ^{[6
,7
]}

Dizikes, George ^{[8
]}

Dorley, Christine ^{[8
]}

Giugliani, Roberto ^{[9
]}

Hietala, Amy ^{[10
]}

Hong, Xinying ^{[1
,2
]}

Kao, Shu-Min ^{[5
]}

Khaledi, Hamid ^{[11
]}

Klug, Tracy ^{[12
]}

Kubaski, Francyne ^{[9
]}

Liao, Hsuan-Chieh ^{[13
]}

Martin, Monica ^{[14
]}

Manning, Adrienne ^{[15
]}

Orsini, Joseph ^{[14
]}

Peng, Yin ^{[3
]}

Ranieri, Enzo ^{[16
]}

Rohrwasser, Andreas ^{[17
]}

Szabo-Fresnais, Nicolas ^{[17
]}

Turgeon, Coleman T. ^{[18
]}

Vaz, Frederick M.

Wang, Li-yun

Matern, Dietrich ^{[18
]}

机构：

[1] Univ Washington, Dept Chem, Seattle, WA 98195 USA

[2] Univ Washington, Dept Biochem, Seattle, WA 98195 USA

[3] Newborn Screening Lab, Illinois Dept Publ Hlth, Chicago, IL 60612 USA

[4] Univ Hosp Padova, Reference Ctr Expanded Newborn Screening, Div Inherited Metab Dis, I-35128 Padua, Italy

[5] Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei 110, Taiwan

[6] Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei 100, Taiwan

[7] Natl Taiwan Univ, Coll Med, Taipei 100, Taiwan

[8] Tennessee Dept Hlth, Div Lab Serv, Knoxville, TN 37920 USA

[9] Univ Fed Rio Grande do Sul, Med Genet Serv, HCPA, DASA & Casa Raros,Dept Genet, BR-91501970 Porto Alegre, Brazil

[10] Newborn Screening Lab, Minnesota Dept Hlth, St Paul, MN 55164 USA

[11] GelbChem LLC, 4000 Mason Rd 300, Seattle, WA 98105 USA

[12] Missouri Dept Hlth & Sr Serv, POB 570, Jefferson City, MO 65102 USA

[13] Univ Washington, Dept Lab Med & Pathol, Seattle, WA 98195 USA

[14] Wadsworth Ctr, David Axelrod Inst, New York State Dept Hlth, Newborn Screening Program, 120 New Scotland Ave, Albany, NY 12201 USA

[15] Katherine A Kelley Publ Hlth Lab, Connecticut Dept Publ Hlth, Rocky Hill, CT 06067 USA

[16] SA Pathol WCH Site, Genet & Mol Pathol, Adelaide, SA 5043, Australia

[17] Utah Dept Hlth & Human Serv, Salt Lake City, UT 84129 USA

[18] Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55902 USA

来源：

INTERNATIONAL JOURNAL OF NEONATAL SCREENING | 2022年 / 8卷 / 04期

关键词：

newborn screening; tandem mass spectrometry; liquid chromatography; dried blood spots; inborn errors of metabolism; reflex testing; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDERS; CONGENITAL ADRENAL-HYPERPLASIA; FALSE-POSITIVE RATE; 2ND-TIER TEST; AMINO-ACIDS; QUANTIFICATION; DIAGNOSIS; SUCCINYLACETONE; ARYLSULFATASE;

D O I：

10.3390/ijns8040062

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.

引用

页数：15

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