Newborn Screening: Current Status in Alberta, Canada

Souza, Andy De; Wolan, Vanessa; Battochio, Angie; Christian, Susan; Hume, Stacey; Johner, Grace; Lilley, Margaret; Ridsdale, Ross; Schnabl, Kareena; Tran, Chi Thanh; Yuen-Jung, Jolene; Sosova, Iveta

doi:10.3390/ijns5040037

Cited by 11 publications

(14 citation statements)

References 16 publications

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“…NBS in Alberta is voluntary, but the participation rate is high [18]. During the duration of this study, 99.45% of all registered infants were screened.…”

Section: Discussionmentioning

confidence: 99%

“…Newborn blood spot screening is offered to the parents/guardians of all infants registered with the Alberta government. Newborn screening is voluntary, and consent is verbal [18]. Collection of the blood specimens is recommended to occur between 24 and 72 h of age, ideally closer to 24 h. If a newborn requires an RBC transfusion (RBCT) within the first 24 h of life, our recommendation is to collect a sample before the transfusion, followed by a second, post-transfused collection at the age equal or greater than 24 h. Dried blood spot (DBS) specimens are collected as previously described [18].…”

Section: Newborn Screening Specimen Collectionmentioning

confidence: 99%

“…Newborn screening is voluntary, and consent is verbal [18]. Collection of the blood specimens is recommended to occur between 24 and 72 h of age, ideally closer to 24 h. If a newborn requires an RBC transfusion (RBCT) within the first 24 h of life, our recommendation is to collect a sample before the transfusion, followed by a second, post-transfused collection at the age equal or greater than 24 h. Dried blood spot (DBS) specimens are collected as previously described [18]. Briefly, capillary blood spots obtained by heel-stick are collected on Whatman 903 filter paper attached to the newborn screening requisition.…”

Section: Newborn Screening Specimen Collectionmentioning

confidence: 99%

“…In Alberta, Canada, SCD was added to the newborn screening panel in April 2019 [18]. The primary conditions screened for are sickle cell anemia (HbS/S), HbS/C disease, and HbS/β thalassemia.…”

Section: Introductionmentioning

confidence: 99%

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The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

Zhou

Ridsdale

MacNeil

et al. 2021

IJNS

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Sickle cell disease (SCD), a group of inherited red blood cell (RBC) disorders caused by pathogenic variants in the beta-globin gene (HBB), can cause lifelong disabilities and/or early mortality. If diagnosed early, preventative measures significantly reduce adverse outcomes related to SCD. In Alberta, Canada, SCD was added to the newborn screening (NBS) panel in April 2019. The primary conditions screened for are sickle cell anemia (HbS/S), HbS/C disease, and HbS/β thalassemia. In this study, we retrospectively analyzed the first 19 months of SCD screening performance, as well as described our approach for screening of infants that have received a red blood cell transfusion prior to collection of NBS specimen. Hemoglobins eluted from dried blood spots were analyzed using the Bio-Rad™ VARIANT nbs analyzer (Bio-Rad Laboratories, Inc., Hercules, CA, USA). Targeted sequencing of HBB was performed concurrently in samples from all transfused infants. During the period of this study, 43 of 80,314 screened infants received a positive NBS result for SCD, and of these, 34 were confirmed by diagnostic testing, suggesting a local SCD incidence of 1:2400 births. There were 608 infants with sickle cell trait, resulting in a carrier frequency of 1:130. Over 98% of non-transfused infants received their NBS results within 10 days of age. Most of the 188 transfused infants and 2 infants who received intrauterine transfusions received their final SCD screen results within 21 ± 10 d of birth. Our SCD screening algorithm enables detection of affected newborns on the initial NBS specimen, independent of the reported blood transfusion status.

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“…NBS in Alberta is voluntary, but the participation rate is high [18]. During the duration of this study, 99.45% of all registered infants were screened.…”

Section: Discussionmentioning

confidence: 99%

Section: Newborn Screening Specimen Collectionmentioning

confidence: 99%

Section: Newborn Screening Specimen Collectionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

Zhou

Ridsdale

MacNeil

et al. 2021

IJNS

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“…Newborn screening (NBS), finally, is a simple test at birth that can identify genetic conditions that may affect a child's long-term health or survival but are treatable at birth [ 93 ]. In many countries, NBS programs have dramatically improved the morbidity and mortality associated with the disorders screened [ 94 , 95 ]. However, in many other countries, mostly LICs and LMICS, NBS programs were not as successful- not because of the diagnostic accuracy but for sociocultural and health-education related reasons.…”

Section: Current Scenario Of Genetic Testing and Counseling In The Context Of Bangladeshmentioning

confidence: 99%

Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

Anwar

Mourosi

Chakraborty³

et al. 2021

Orphanet J Rare Dis

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With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people living in low and lower-middle-income countries (LICs and LIMCs), including Bangladesh, are rather underprivileged in receiving genetic services. Consequently, genetic disorders are emerging as a significant public health concern in these countries. Lack of expertise, high expense, the dearth of epidemiological data, insufficiently updated medical education system, poor infrastructure, and the absence of comprehensive health policies are the main factors causing people living in these countries not having access to genetic services. In this article, the authors took benefit from their professional experience of practicing medical genetics in the area and reviewed existing literature to provide their opinions. Particularly, it reviews the current knowledge of genetic disorders' burden and their causative factors in Bangladesh. It focuses on why providing genetic services is challenging in the context of the country's cultural and religious sentiment. Finally, it proposes a physician-academician collaborative framework within the existing facility that aims to tackle the challenges. Such a framework could also be useful for other LICs and LMICs to address the challenges associated with providing genetic services.

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Applications of quantitative metabolomics to revolutionize early diagnosis of inborn errors of metabolism in India

Chandran

Bellad

Ramarajan

et al. 2021

Analytical Science Advances

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Inborn errors of metabolism (IEMs) are a group of disorders caused by disruption of metabolic pathways, which leads to accumulation, decreased circulating levels, or increased excretion of metabolites as a consequence of the underlying genetic defects.These heterogeneous groups of disorders cause significant neonatal and infant mortality across the whole world and it is of utmost concern for developing countries like India owing to lack of awareness and standard preventive strategies like newborn screening (NBS). Though the predictive cumulative incidence of IEMs is said to be ∼1:800 newborns, data pertaining to the true prevalence of individual IEMs is not available in the context of Indian population. There is a need for a large population-based study to get a clear picture of the prevalence of different IEMs. One of the best ways to screen for IEMs is by applying advanced liquid chromatography-mass spectrometry (LC-MS) technology using a quantitative metabolomics approaches such as selected or multiple reaction monitoring (SRM or MRM). Recent developments in LC-MS/MRM based quantification of marker metabolites in newborns have opened a novel opportunity to screen multiple disorders simultaneously from a minuscule volume of biological fluids. In this review article, we have highlighted how LC-MS/MRM based metabolomics approach with its high sensitivity and diagnostic capability can make an impact on the nation's public health through NBS programs.

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Newborn Screening: Current Status in Alberta, Canada

Cited by 11 publications

References 16 publications

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

Applications of quantitative metabolomics to revolutionize early diagnosis of inborn errors of metabolism in India

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