Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

Hopkins, Patrick V.; Klug, Tracy; Vermette, Lacey; Raburn-Miller, Julie; Kiesling, Jami; Rogers, Sharmini

doi:10.1001/jamapediatrics.2018.0263

Cited by 48 publications

(45 citation statements)

References 4 publications

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“…Thus, in light of the expected US birth rate of at most 4 million annually, it is predicted that one false positive would emerge every 25 years if the BVNL‐based test was applied to every US newborn. This would represent a remarkable improvement in NBS for MPSI …”

Section: Discussionmentioning

confidence: 99%

“…There were only seven early-onset Hurler patients whose newborn DBS were available for retrospective analyses. Since the incidence of MPSI has been approximated to be around 1/100 000 live births, 1,18,25,26 it was not unexpected that no new case emerged among the prospectively screened 5000 Japanese newborns (Figure 1). An earlier study showed elevated GAGs in DBS from 11 cases of MPS1.…”

Section: Discussionmentioning

confidence: 99%

“…However, the choice of low (and therefore sensitive) enzyme thresholds is partially responsible for the lack of an acceptable balance between false positive and negative screens in NBS, as reported for the two disorders to which BVNL diagnostic tools have now been applied: KD 13,33 and MPSI. [14][15][16][17][18][19] There is also ethically motivated urgency to reduce high false positive rates. 32 Using more aggressive thresholds to reduce false positive screens in a univariate test may, however, increase false negative screens.…”

Section: Discussionmentioning

confidence: 99%

“…This would represent a remarkable improvement in NBS for MPSI. [14][15][16][17][18][19] No new case was identified among the 5000 prospective screens from the Gifu prefecture. New York State recently reported the results of 65 000 LSDs newborn screens.…”

Section: Discussionmentioning

confidence: 99%

“…2,4 These 12 were considered to have a "pseudo-deficiency," with low alpha-Liduronidase (IDUA) enzyme but no symptoms. 2,4,18 Separately, newborn DBS were obtained retrospectively for seven known nonattenuated MPSI patients. 4 These cases were not from the Gifu MPSI pilot program, and repeat analyses for them are not available.…”

Section: Synopsismentioning

confidence: 99%

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Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

et al. 2020

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Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs). To improve the accuracy of presymptomatic prediction for MPSI, we propose an NBS tool based on known biomarkers, alpha‐L‐iduronidase enzyme activity (IDUA) and level of the glycosaminoglycan (GAG) heparan sulfate (HS). Methods We developed the NBS tool using measures from dried blood spots (DBS) of 5000 normal newborns from Gifu Prefecture, Japan. The tool's predictive accuracy was tested on the newborn DBS from these infants and from seven patients who were known to have early‐onset MPSI (Hurler's syndrome). Bivariate analyses of the standardized natural logarithms of IDUA and HS levels were employed to develop the tool. Results Every case of early‐onset MPSI was predicted correctly by the tool. No normal newborn was incorrectly identified as having early‐onset MPSI, whereas 12 normal newborns were so incorrectly identified by the Gifu NBS protocol. The PPV was estimated to be 99.9%. Conclusions Bivariate analysis of IDUA with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment. This bivariate analysis‐based approach, which was developed for Krabbe disease, can be extended to additional screened disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Synopsismentioning

confidence: 99%

See 3 more Smart Citations

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

et al. 2020

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Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

Bali

Austin

Kishnani

2021

Genetic Disorders and the Fetus

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Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen

Pasqualim

Freitas

et al. 2020

American J of Med Genetics Pt A

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Several studies have been published on the frequency of the mucopolysaccharidoses (MPS) in different countries. The objective of the present study was to estimate the birth prevalence (BP) of MPS in Brazil. MPS diagnosis registered at MPS‐Brazil Network and in Instituto Vidas Raras were reviewed. BP was estimated by (a) the number of registered patients born between 1994 and 2015 was divided by the number of live births (LBs), and (b) a sample of 1,000 healthy individuals was tested for the most frequent variant in IDUA gene in MPS I (p.Trp402Ter) to estimate the frequency of heterozygosity and homozygosity. (a) The BP based on total number of LBs was (cases per 100,000 LBs): MPS overall: 1.25; MPS I: 0.24; MPS II: 0.37; MPS III: 0.21; MPS IV: 0.14; MPS VI: 0.28; MPS VII: 0.02. (b) The overall frequency of p.Trp402Ter was 0.002. Considering the frequency of heterozygotes for the p.Trp402Ter IDUA variant in the RS state, the frequency of this variant among MPS I patients and the relative frequency of the different MPSs, we estimated the birth prevalence of MPS in total and of each MPS type, as follows: MPS overall: 4.62; MPS I: 0.95; MPS II: 1.32; MPS III: 0.56; MPS IV: 0.57; MPS VI: 1.02; MPS VII: 0.05. This study provided original data about BP and relative frequency of the MPS types, in Brazil, based on the frequency of the commonest IDUA pathogenic variant and in the records of two large patient databases.

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Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

Cited by 48 publications

References 4 publications

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

Estimated birth prevalence of mucopolysaccharidoses in Brazil

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