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Article ; Online: A computer vision approach to the assessment of dried blood spot size and quality in newborn screening.

Flynn, Nick / Moat, Stuart J / Hogg, Sarah L

Clinica chimica acta; international journal of clinical chemistry

2023 Volume 547, Page(s) 117418

Abstract: Background: Dried blood spot (DBS) size and quality affect newborn screening (NBS) test results. Visual assessment of DBS quality is subjective.: Methods: We developed and validated a computer vision (CV) algorithm to measure DBS diameter and ... ...

Abstract	Background: Dried blood spot (DBS) size and quality affect newborn screening (NBS) test results. Visual assessment of DBS quality is subjective. Methods: We developed and validated a computer vision (CV) algorithm to measure DBS diameter and identify incorrectly applied blood in images from the Panthera DBS puncher. We used CV to assess historical trends in DBS quality and correlate DBS diameter to NBS analyte concentrations in 130,620 specimens. Results: CV estimates of DBS diameter were precise (percentage coefficient of variation < 1.3%) and demonstrated excellent agreement with digital calipers with a mean (standard deviation) difference of 0.23 mm (0.18 mm). An optimised logistic regression model showed a sensitivity of 94.3% and specificity of 96.8% for detecting incorrectly applied blood. In a validation set of images (n = 40), CV agreed with an expert panel in all acceptable specimens and identified all specimens rejected by the expert panel due to incorrect blood application or DBS diameter > 14 mm. CV identified a reduction in unsuitable NBS specimens from 25.5% in 2015 to 2% in 2021. Each mm decrease in DBS diameter decreased analyte concentrations by up to 4.3%. Conclusions: CV can aid assessment of DBS size and quality to harmonize specimen rejection both within and between laboratories.
MeSH term(s)	Infant, Newborn ; Humans ; Dried Blood Spot Testing/methods ; Neonatal Screening/methods ; Blood Specimen Collection/methods ; Algorithms ; Laboratories
Language	English
Publishing date	2023-06-03
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2023.117418
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Evaluation of volumetric blood collection devices for the measurement of phenylalanine and tyrosine to monitor patients with phenylketonuria.

Carling, Rachel S / Emmett, Erin C / Moat, Stuart J

Clinica chimica acta; international journal of clinical chemistry

2022 Volume 535, Page(s) 157–166

Abstract: Background: Measurement of dried blood spot (DBS) phenylalanine (Phe) is central to the monitoring of patients with phenylketonuria. However, the volume and hematocrit (Hct) of the blood applied to conventional DBS cards significantly affects analytical ...

Abstract	Background: Measurement of dried blood spot (DBS) phenylalanine (Phe) is central to the monitoring of patients with phenylketonuria. However, the volume and hematocrit (Hct) of the blood applied to conventional DBS cards significantly affects analytical results. Volumetric blood collection devices are reported to be more accurate, precise and less prone to Hct effects. Methods: Accuracy, imprecision, effect of blood volume and Hct were evaluated for measurement of Phe and tyrosine using three volumetric devices and compared with the conventional PerkinElmer-226 filter-paper collection devices. i.e. conventional DBS cards. Applicability for use in a clinical laboratory was assessed qualitatively. Results: Blood volume did not impact on the performance of the volumetric devices; however, significant biases were observed with the conventional DBS card. A higher Hct introduced unacceptable bias for Neoteryx-Mitra and conventional DBS card. All devices had a mean relative standard deviation (RSD) ≤ 4.1 %, except for the Neoteryx-Mitra (≤ 6.2 %). Relative to liquid blood, the mean biases of Phe for the various devices were -5.1 (HemaXis-DB10), -7.8 (Capitainer-qDBS), -12.0 (Neoteryx-Mitra) and -32.6 % (conventional DBS card). Conclusions: Introducing volumetric collection devices will overcome the significant pre-analytical issues associated with conventional DBS collection and improve the biochemical monitoring of patients with PKU.
Language	English
Publishing date	2022-08-20
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2022.08.005
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Article ; Online: Transcobalamin receptor gene polymorphisms and mutation in an elderly population.

McCaddon, Andrew / Carr, Daniel F / Peter, Hudson / Moat, Stuart J / Quadros, Edward V

Clinical nutrition ESPEN

2023 Volume 55, Page(s) 425–427

Abstract: Background & aims: Cellular uptake of the essential nutrient vitamin B12 (cobalamin) occurs via the transcobalamin receptor (TCblR/CD320), a ubiquitous membrane receptor. Polymorphisms in the receptor exist, though the effect of such variants across ... ...

Abstract	Background & aims: Cellular uptake of the essential nutrient vitamin B12 (cobalamin) occurs via the transcobalamin receptor (TCblR/CD320), a ubiquitous membrane receptor. Polymorphisms in the receptor exist, though the effect of such variants across patient populations is unknown. Methods: We determined CD320 genotype in 377 randomly selected elderly individuals. Results: Three polymorphisms and a codon deletion were identified in the exon 2 region. Haplotype variants had significantly higher holotranscobalamin (holo-TC) values and a higher holo-TC/total cobalamin ratio. TCblR haplotype explained 46% of the variability in holo-TC values. Conclusions: This has significant implications for the clinical utility of the 'combined indicator' of B12 status since it is based on a standard rate of intracellular flux via the TC-Cbl receptor. Modification of the model may be required to account for CD320 haplotype.
MeSH term(s)	Aged ; Humans ; Mutation ; Polymorphism, Genetic ; Receptors, Cell Surface/genetics ; Vitamin B 12
Chemical Substances	Receptors, Cell Surface ; transcobalamin receptor ; Vitamin B 12 (P6YC3EG204) ; CD320 protein, human
Language	English
Publishing date	2023-05-02
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2405-4577
ISSN (online)	2405-4577
DOI	10.1016/j.clnesp.2023.04.023
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders.

Moat, Stuart J / George, Roanna S / Carling, Rachel S

International journal of neonatal screening

2020 Volume 6, Issue 2, Page(s) 26

Abstract: Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot (DBS) specimens has been routinely used since the inception of newborn screening (NBS) for phenylketonuria in the 1960s. The introduction of flow injection analysis ... ...

Abstract	Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot (DBS) specimens has been routinely used since the inception of newborn screening (NBS) for phenylketonuria in the 1960s. The introduction of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in the 1990s facilitated the expansion of NBS for IMDs. This has led to increased identification of patients who require biochemical monitoring. Monitoring of IMD patients using DBS specimens is widely favoured due to the convenience of collecting blood from a finger prick onto filter paper devices in the patient's home, which can then be mailed directly to the laboratory. Ideally, analytical methodologies with a short analysis time and high sample throughput are required to enable results to be communicated to patients in a timely manner, allowing prompt therapy adjustment. The development of ultra-performance liquid chromatography (UPLC-MS/MS), means that metabolic laboratories now have the capability to routinely analyse DBS specimens with superior specificity and sensitivity. This advancement in analytical technology has led to the development of numerous assays to detect analytes at low concentrations (pmol/L) in DBS specimens that can be used to monitor IMD patients. In this review, we discuss the pre-analytical, analytical and post-analytical variables that may affect the final test result obtained using DBS specimens used for monitoring of patients with an IMD.
Language	English
Publishing date	2020-03-26
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns6020026
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.

la Marca, Giancarlo / Carling, Rachel S / Moat, Stuart J / Yahyaoui, Raquel / Ranieri, Enzo / Bonham, James R / Schielen, Peter C J I

International journal of neonatal screening

2023 Volume 9, Issue 1

Abstract: In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became ... ...

Abstract	In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of public health in developed countries. Technological advances allowed for the addition of new disorders into routine programmes and thereby resulted in a paradigm shift. Today, technological advances in immunological methods, tandem mass spectrometry, PCR techniques, DNA sequencing for mutational variant analysis, ultra-high performance liquid chromatography (UPLC), iso-electric focusing, and digital microfluidics are employed in the NBS laboratory to detect more than 60 disorders. In this review, we will provide the current state of methodological advances that have been introduced into NBS. Particularly, 'second-tier' methods have significantly improved both the specificity and sensitivity of testing. We will also present how proteomic and metabolomic techniques can potentially improve screening strategies to reduce the number of false-positive results and improve the prediction of pathogenicity. Additionally, we discuss the application of complex, multiparameter statistical procedures that use large datasets and statistical algorithms to improve the predictive outcomes of tests. Future developments, utilizing genomic techniques, are also likely to play an increasingly important role, possibly combined with artificial intelligence (AI)-driven software. We will consider the balance required to harness the potential of these new advances whilst maintaining the benefits and reducing the risks for harm associated with all screening.
Language	English
Publishing date	2023-03-17
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns9010015
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Carling, Rachel S / Hedgethorne, Katy / Chakrapani, Anupam / Hall, Patricia L / Flynn, Nick / Greenfield, Toby / Moat, Stuart J / Ssali, Joshua / Shakespeare, Lynette / Taj, Nazia / Wu, Teresa H Y / Anderson, Mark / Ghosh, Arunabha / Lemonde, Hugh / Pierre, Germaine / Sharrard, Mark / Sreekantam, Sreevidya / Bonham, James R

International journal of neonatal screening

2024 Volume 10, Issue 1

Abstract: Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true ... ...

Abstract	Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 true positive (TP) and 84 FP cases, with pivalate interference confirmed in 76/84. Initial C5 carnitine (C5C) did not discriminate between FP and TP with median (range) C5C of 2.9 (2.0-9.6) and 4.0 (1.8->70) µmol/L, respectively, and neither did Precision Newborn Screening via Collaborative Laboratory Integrated Reports (CLIR), which identified only 1/47 FP cases. However, among the TP cases, disease severity showed a correlation with initial C5C in 'asymptomatic' individuals (
Language	English
Publishing date	2024-03-13
Publishing country	Switzerland
Document type	Journal Article
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns10010024
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Transcobalamin receptor gene polymorphisms and mutation in an elderly population

McCaddon, Andrew / Carr, Daniel F. / Peter, Hudson / Moat, Stuart J. / Quadros, Edward V.

Clinical Nutrition ESPEN. 2023 June, v. 55 p.425-427

2023

Abstract: Cellular uptake of the essential nutrient vitamin B12 (cobalamin) occurs via the transcobalamin receptor (TCblR/CD320), a ubiquitous membrane receptor. Polymorphisms in the receptor exist, though the effect of such variants across patient populations is ... ...

Abstract	Cellular uptake of the essential nutrient vitamin B12 (cobalamin) occurs via the transcobalamin receptor (TCblR/CD320), a ubiquitous membrane receptor. Polymorphisms in the receptor exist, though the effect of such variants across patient populations is unknown. We determined CD320 genotype in 377 randomly selected elderly individuals. Three polymorphisms and a codon deletion were identified in the exon 2 region. Haplotype variants had significantly higher holotranscobalamin (holo-TC) values and a higher holo-TC/total cobalamin ratio. TCblR haplotype explained 46% of the variability in holo-TC values. This has significant implications for the clinical utility of the 'combined indicator' of B12 status since it is based on a standard rate of intracellular flux via the TC-Cbl receptor. Modification of the model may be required to account for CD320 haplotype.
Keywords	clinical nutrition ; elderly ; exons ; haplotypes ; models ; mutation ; patients ; vitamin B12 ; Cobalamin ; Transcobalamin ; Transcobalamin receptor ; Gene ; Polymorphisms ; CD320
Language	English
Dates of publication	2023-06
Size	p. 425-427.
Publishing place	Elsevier Ltd
Document type	Article ; Online
Note	Use and reproduction
ISSN	2405-4577
DOI	10.1016/j.clnesp.2023.04.023
Database	NAL-Catalogue (AGRICOLA)

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Article: Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.

Carling, Rachel S / Barclay, Zoe / Cantley, Nathan / Emmett, Erin C / Hogg, Sarah L / Finezilber, Yael / Schulenburg-Brand, Danja / Murphy, Elaine / Moat, Stuart J

JIMD reports

2023 Volume 64, Issue 6, Page(s) 468–476

Abstract: Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in ... ...

Abstract	Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, differences in methodology, calibration approach and assumptions about the volume of blood in a DBS sub-punch has complicated this. Volumetric blood collection devices (VBCDs) provide an opportunity to re-evaluate this relationship. Paired venous and capillary samples were collected from patients with PKU (
Language	English
Publishing date	2023-10-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12398
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Maternal SARS-CoV-2 sero-surveillance using newborn dried blood spot (DBS) screening specimens highlights extent of low vaccine uptake in pregnant women.

Moat, Stuart J / Hillier, Sharon / de Souza, Sikha / Perry, Malorie / Cottrell, Simon / Lench, Alex / Payne, Heather / Jolles, Stephen

Human vaccines & immunotherapeutics

2022 Volume 18, Issue 5, Page(s) 2089498

Abstract: SARS-CoV-2 vaccine uptake in pregnant women is believed to be low and lags behind the general population contributing to increased hospital admissions, and poor maternal and fetal outcomes. However, there is a paucity of information on the SARS-CoV-2 ... ...

Abstract	SARS-CoV-2 vaccine uptake in pregnant women is believed to be low and lags behind the general population contributing to increased hospital admissions, and poor maternal and fetal outcomes. However, there is a paucity of information on the SARS-CoV-2 serostatus of pregnant women to help inform policy planning and assess impact of interventions to improve vaccine uptake in this at-risk group. We analyzed 8,683 residual, anonymized newborn screening dried bloodspot (DBS) specimens during a 15-month period (October 2020 to December 2021) in Wales (UK) for SARS-CoV-2 IgG-antibodies. We compared newborn DBS antibody-positive rates to the percentage number of pregnant women vaccinated and the percentage number of antibody-positive adults. In December 2021, 47.8% of women in Wales had received two doses of the vaccine by their delivery date; however, only 41.1% of DBS specimens had high antibody concentrations. Results indicate that a proportion of pregnant women remain at higher-risk of COVID complications, particularly given the reduction in antibody neutralization of Omicron versus the Delta variant. Our study demonstrates the utility of newborn screening DBS specimens to monitor SARS-CoV-2 serostatus in pregnant women representing maternal vaccination and natural infection in almost real-time, defining the immunity gap and impact of any interventions.
MeSH term(s)	Pregnancy ; Adult ; Infant, Newborn ; Humans ; Female ; SARS-CoV-2 ; Pregnant Women ; Neonatal Screening ; COVID-19 Vaccines ; Antibodies, Viral ; COVID-19/diagnosis ; COVID-19/prevention & control ; Viral Vaccines ; Pregnancy Complications, Infectious/diagnosis ; Pregnancy Complications, Infectious/prevention & control
Chemical Substances	COVID-19 Vaccines ; Antibodies, Viral ; Viral Vaccines
Language	English
Publishing date	2022-06-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2664176-8
ISSN	2164-554X ; 2164-5515
ISSN (online)	2164-554X
ISSN	2164-5515
DOI	10.1080/21645515.2022.2089498
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Article ; Online: Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.

McBride, David J / Fielding, Claire / Newington, Taksina / Vatsiou, Alexandra / Fischl, Harry / Bajracharya, Maya / Thomson, Vicki S / Fraser, Louise J / Fujita, Pauline A / Becq, Jennifer / Kingsbury, Zoya / Ross, Mark T / Moat, Stuart J / Morgan, Sian

International journal of neonatal screening

2023 Volume 9, Issue 3

Abstract: The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5-6 mm) can be taken from DBS specimens to use as inputs ... ...

Abstract	The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5-6 mm) can be taken from DBS specimens to use as inputs for a range of biochemical assays. Advances in DNA sequencing workflows allow whole-genome sequencing (WGS) libraries to be generated directly from inputs such as peripheral blood, saliva, and DBS. We compared WGS metrics obtained from libraries generated directly from DBS to those generated from DNA extracted from peripheral blood, the standard input for this type of assay. We explored the flexibility of DBS as an input for WGS by altering the punch number and size as inputs to the assay. We showed that WGS libraries can be successfully generated from a variety of DBS inputs, including a single 3 mm or 6 mm diameter punch, with equivalent data quality observed across a number of key metrics of importance in the detection of gene variants. We observed no difference in the performance of DBS and peripheral-blood-extracted DNA in the detection of likely pathogenic gene variants in samples taken from individuals with cystic fibrosis or phenylketonuria. WGS can be performed directly from DBS and is a powerful method for the rapid discovery of clinically relevant, disease-causing gene variants.
Language	English
Publishing date	2023-09-21
Publishing country	Switzerland
Document type	Journal Article
ISSN	2409-515X
ISSN (online)	2409-515X
DOI	10.3390/ijns9030052
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