dépistage néonatal
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L'objectif du dépistage des erreurs innées du métabolisme (EIM) est d’identifier les nouveau-nés atteints d’une EIM au stade asymptomatique et de les prendre en charge rapidement afin d’améliorer leur pronostic. La spectrométrie de masse en tandem (MS/MS) a permis de détecter plusieurs métabolites à partir d’un même prélèvement sanguin. Aujourd’hui, dans un contexte où le dépistage néonatal est transféré de la plateforme urinaire vers la plateforme sanguine, le MSSS a mandaté l’INESSS afin de procéder à l'évaluation de la pertinence d’offrir ou non le dépistage néonatal sanguin par MS/MS de sept erreurs innées du métabolisme: le déficit en 3-méthylcrotonyl-CoA carboxylase (3-MCC) l’hyperargininémie (ARG) le syndrome du triple H (HHH) la citrullinémie de type I (CIT-I) la citrullinémie de type II (CIT-II) l’acidémie méthylmalonique (MMA) l’acidémie propionique (PA) Sur les sept erreurs innées du métabolisme évaluées, l'INESSS recommande le dépistage sur échantillon sanguin pour deux, soit: 1) l’acidémie méthylmalonique (MMA), et, 2) l’acidémie propionique (PA). 
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Newborn blood spot (NBS) screening seeks to prevent ill health, disability and death through early diagnosis and effective intervention. Each year, around 10,000 parents of babies born in England are given a positive NBS result indicating their child may be affected or carriers of one of the nine conditions currently screened for. Despite guidance, these results are inconsistently delivered to parents across geographical regions. There is evidence that many parents are dissatisfied with how NBS results are communicated to them and that poor communication practices can lead to various negative sequelae. The purpose of this study is to co-design, implement and undertake a process evaluation of new, co-designed interventions to improve delivery of initial positive NBS results to parents.
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For newborn screening (NBS) of lysosomal storage diseases, programs measure enzymatic activities in dried blood spots (DBS) and, in most cases, act on samples where the measurement is below a specific cutoff value. The rate of false positives and negative
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We conducted a consented pilot newborn screening (NBS) for Pompe,
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Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.We evaluate
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One of the most successful public health stories in U.S. history — the nation's newborn screening program — is up for reauthorization. Congress must do it.
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Background: The etiology, course, and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis with bloodspo
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To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina.The screening algorithm …
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Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from…
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This Special Communication discusses challenges to implementing newborn screening for neuromuscular diseases and how overcoming those challenges can maximize the potential of newly available life-saving therapies.
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Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before clinical manifestation. With an effective treatment available, a newborn screening assay is highly demanded. Since newborns with cystinosis usually do not show symptoms within the first months of life and no biochemical markers are easily detectable, a DNA-based method seems to be an obvious tool for early diagnosis. Screening was performed using high-throughput nucleic acid extraction followed by 384-well qPCR and melting analysis for the three most frequent variants (57 kb deletion NC_000017.11:g.3600934_3658165del (GRCh38); c.18_21del GACT; c.926dupG) responsible for the defective lysosomal membrane protein cystinosin (CTNS). To increase sensitivity, all heterozygous samples identified in qPCR assay were verified and screened for additional variants by applying next generation sequencing. From January 2018 to July 2019 nearly 292,000 newborns were successfully screened. We identified two newborns with a homozygous 57 kb deletion and a second one with heterozygous 57 kb deletion and a G>C substitution at position c.-512 on the second allele. Cystinosis is an example for diseases caused by a limited number of high prevalence and a high number of low prevalence variants. We have shown that qPCR combined with NGS can be used as a high throughput, cost effective tool in newborn screening for such diseases.
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Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from…
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(2018). Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses. Expert Review of Molecular Diagnostics: Vol. 18, No. 10, pp. 855-866.
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