Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency

Hartog, Nicholas; Hershfield, Michael S.; Michniacki, Thomas F.; Moloney, Shawn; Holsworth, Amanda; Hurden, Isabel; Fredrickson, Mary; Kleyn, Mary; Walkovich, Kelly

doi:10.1016/j.anai.2022.07.016

Cited by 9 publications

(5 citation statements)

References 48 publications

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“…A cost-effectiveness and outcomes study for PKU was reported in 2021 based on new treatments and other new data [ 254 ]. At least four reports in 2022 addressed various issues pertinent to NBS: a report providing initial evidence of the value of screening for adenosine deaminase deficiency (ADA) using MS/MS [ 255 ]; a report showing the benign nature of transcobalamin receptor deficiency and the assertion that its detection should be considered an incidental finding with the caveat that long-term data are needed to ascertain the long-term outcomes of identified children [ 256 ]; a report on online NBS education for expectant parents showing that virtual baby fairs are cost effective, convenient, and equitable [ 257 ]; and an evaluation of national data currently maintained in a federally-supported database (NewSTEPs) that showed, “ … potential usefulness of NewSTEPs for research if investments in higher-quality data are made ” [ 258 ]. Physician education was the subject of a 2023 report that used case-based scenarios to review SCID NBS results, the principles of TREC-based NBS, the genetics and subtypes of SCID, and patient management for a positive TREC-based screening result [ 69 ].…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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“…NeoBase 2 assay was assessed based on the recommendations of the CLSI guidelines [66]. Several studies confirmed good analytical performance of Neobase 2 kit in terms of precision, accuracy, limit of detection (LOD), lower limit of quantification (LLOQ), linearity, recovery, and carryover [67][68][69][70].…”

Section: Dried Blood Spot Metabolome Analysis (Fia-mrm-ms)mentioning

confidence: 98%

Metabolite Biomarkers for Early Ischemic Hypoxic Encephalopathy: An Experimental Study Using the NeoBase 2 MSMS Kit in a Rat Model

Shevtsova,

Starodubtseva,

Tokareva

et al. 2023

Preprint

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Hypoxic-ischemic encephalopathy (HIE) is one of the most common causes of childhood disability. Hypothermic therapy is currently the only approved neuroprotective approach. However, early diagnosis of HIE can be challenging, especially in the first hours after birth when the decision to treat with hypothermic therapy is critical. Differentiating HIE from other neonatal conditions, such as sepsis, further complicates the diagnosis. This study investigated the utility of a metabolomic-based approach using the NeoBase 2 MSMS kit to diagnose HIE using dry blood stains in a Rice-Vannucci model of HIE in rats. We evaluated the diagnostic accuracy of this method between 3 and 6 hours after the onset of HIE, including in the context of systemic inflammation and concomitant hypothermic therapy. Discriminant analysis revealed several metabolite patterns associated with HIE. A logistic regression model using glycine levels achieved high diagnostic accuracy with areas under the curve (AUC) of 0.94 at 3 hours and 0.96 at 6 hours after the onset of HIE. In addition, orthogonal partial least squares discriminant analysis, which included five metabolites, achieved 100% sensitivity and 80% specificity within 3 hours of HIE. These results highlight the significant potential of the NeoBase 2 MSMS kit for the early diagnosis of HIE and could improve patient management and outcomes in this serious illness.

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“…NeoBase 2 assay was assessed based on the recommendations of the CLSI (the Clinical and Laboratory Standards Institute) guidelines [66]. Several studies confirmed good analytical performance of Neobase 2 kit in terms of precision, accuracy, limit of detection (LOD), lower limit of quantification (LLOQ), linearity, recovery, and carryover [67][68][69][70].…”

Section: Dried Blood Spot Metabolome Analysis (Fia-mrm-ms)mentioning

confidence: 99%

Metabolite Biomarkers for Early Ischemic–Hypoxic Encephalopathy: An Experimental Study Using the NeoBase 2 MSMS Kit in a Rat Model

Shevtsova,

Starodubtseva,

Tokareva

et al. 2024

IJMS

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Hypoxic–ischemic encephalopathy (HIE) is one of the most common causes of childhood disability. Hypothermic therapy is currently the only approved neuroprotective approach. However, early diagnosis of HIE can be challenging, especially in the first hours after birth when the decision to use hypothermic therapy is critical. Distinguishing HIE from other neonatal conditions, such as sepsis, becomes a significant problem in diagnosis. This study explored the utility of a metabolomic-based approach employing the NeoBase 2 MSMS kit to diagnose HIE using dry blood stains in a Rice–Vannucci model of HIE in rats. We evaluated the diagnostic fidelity of this approach in a range between 3 and 6 h after the onset of HIE, including in the context of systemic inflammation and concomitant hypothermic therapy. Discriminant analysis revealed several metabolite patterns associated with HIE. A logistic regression model using glycine levels achieved high diagnostic fidelity with areas under the receiver operating characteristic curve of 0.94 at 3 h and 0.96 at 6 h after the onset of HIE. In addition, orthogonal partial least squares discriminant analysis, which included five metabolites, achieved 100% sensitivity and 80% specificity within 3 h of HIE. These results highlight the significant potential of the NeoBase 2 MSMS kit for the early diagnosis of HIE and could improve patient management and outcomes in this serious illness.

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Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency

Cited by 9 publications

References 48 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Metabolite Biomarkers for Early Ischemic Hypoxic Encephalopathy: An Experimental Study Using the NeoBase 2 MSMS Kit in a Rat Model

Metabolite Biomarkers for Early Ischemic–Hypoxic Encephalopathy: An Experimental Study Using the NeoBase 2 MSMS Kit in a Rat Model

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