Analytical Evaluation of the Ideal Strategy for High-Throughput Flow Injection Analysis by Tandem Mass Spectrometry in Routine Newborn Screening

The introduction of tandem mass spectrometry (MS/MS) to clinical laboratories and the advent of expanded newborn screening (NBS) were crucial changes to public health programs worldwide. Speed, robustness, accuracy, selectivity, and specificity of analysis are all requirements of expanded NBS and are needed to minimize false positive results risks, to possibly eliminate false negatives, and to improve the positive predictive value of NBS. In this study, we firstly evaluated the analytical performances of the RenataDX Screening System, a fully integrated flow-injection MS/MS (FIA-MS/MS) IVD system for high-throughput dried blood spot (DBS) analysis in a routine NBS laboratory. Since a choice of several commercial NBS kits is available, we sought to compare NeoBaseTM 2 (PerkinElmer®) and MassChrom® (Chromsystems) non-derivatized kits on the RenataDX platform by evaluating their analytical performances. Moreover, we verified the degree of correlation between data obtained by the two different NBS MS/MS kits by FIA-MS/MS of over 500 samples. Our data suggest that both methods correlate well with clinically insignificant differences that do not impact the NBS result. Finally, while NeoBase™ 2 offers an easier and faster sample preparation, MassChrom® provides a cleaner sample extract which empirically should improve instrument reliability.

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

Journal of Pharmaceutical and Biomedical Analysis ◽

10.1016/j.jpba.2013.08.044 ◽

2014 ◽

Vol 88 ◽

pp. 201-206 ◽

Cited By ~ 16

Author(s):

Giancarlo la Marca ◽

Elisa Giocaliere ◽

Sabrina Malvagia ◽

Silvia Funghini ◽

Daniela Ombrone ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Tandem Mass ◽

Expanded Newborn Screening

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Frontiers in Genetics ◽

10.3389/fgene.2019.01052 ◽

2019 ◽

Vol 10 ◽

Cited By ~ 7

Author(s):

Ting Wang ◽

Jun Ma ◽

Qin Zhang ◽

Ang Gao ◽

Qi Wang ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Chinese Population ◽

Inborn Errors Of Metabolism ◽

Tandem Mass ◽

Inborn Errors ◽

Genetic Characteristics ◽

Disease Spectrum ◽

Expanded Newborn Screening

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Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2012-0472 ◽

2013 ◽

Vol 51 (1) ◽

Cited By ~ 21

Author(s):

Tomris Ozben

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Inborn Errors Of Metabolism ◽

Tandem Mass ◽

Inborn Errors ◽

Expanded Newborn Screening

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Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

International Journal of Neonatal Screening ◽

10.3390/ijns5020019 ◽

2019 ◽

Vol 5 (2) ◽

pp. 19 ◽

Cited By ~ 1

Author(s):

Arieh Cohen ◽

Marta Baurek ◽

Allan Lund ◽

Morten Dunø ◽

David Hougaard

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Metabolic Disorders ◽

Tandem Mass ◽

Screening Programs ◽

Screening Performance ◽

Expanded Newborn Screening ◽

Classical Galactosaemia

Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galactose. These methods cannot be multiplexed and therefore require one full punch per sample. Since the introduction of mass spectrometry in newborn screening, many diseases have been included in newborn screening programs. Here, we present a method for including classical galactosaemia in an expanded newborn screening panel based on the specific determination of galactose-1-phosphate by tandem mass spectrometry. The existing workflow only needs minor adjustments, and it can be run on the tandem mass spectrometers in routine use. Furthermore, compared to the currently used methods, this novel method has a superior screening performance, producing significantly fewer false positive results. We present data from 5500 routine newborn screening samples from the Danish Neonatal Screening Biobank. The cohort was enriched by including 14 confirmed galactosaemia positive samples and 10 samples positive for other metabolic disorders diagnosed through the Danish newborn screening program. All galactosaemia positive samples were identified by the method with no false positives. Furthermore, the screening performance for other metabolic disorders was unaffected.

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