Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated

Mütze, Ulrike; Walter, Magdalena; Keller, Mareike Kristina; Gramer, Gwendolyn; Garbade, Sven F.; Gleich, Florian; Haas, Dorothea; Posset, Roland; Grünert, Sarah C.; Hennermann, Julia B.; Thimm, Eva; Fang-Hoffmann, Junmin; Syrbe, Steffen; Okun, Jürgen G.; Hoffmann, Georg F.; Kölker, Stefan

doi:10.1016/j.jpeds.2021.02.009

Cited by 22 publications

(45 citation statements)

References 29 publications

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“…8 Indeed, M€ utze et al report on 5 infants with normal newborn screens who subsequently were hospitalized for neurologic symptoms related to infantile B12 deficiency. 6 Therefore, this at-birth strategy was not sufficient to fully prevent symptomatic infantile B12 deficiency.…”

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confidence: 99%

“…In this cohort, 38% of parents identified that the diagnosis of congenital B12 deficiency was a burden for the family. 6 The second is that the criteria of Wilson and Jungner suggest case finding should be a continuing process. Although most infantile B12 deficiency is congenital, B12 deficiency also may have onset during infancy, especially in exclusively breastfed infants with mothers with inadequate B12 status.…”

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confidence: 99%

“…Expanding on that work, in this volume of The Journal, M€ utze et al present the outcomes of children who screened positive using the diagnostic strategy that they had developed. 5,6 Early diagnosis in this cohort allowed for the initiation of B12 treatment in 29 infants for a median of 5.9 months and normalization of B12 status in 96% of subjects. Early diagnosis and treatment resulted in age-appropriate development, neurologic outcomes, and normal growth in all subjects.…”

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confidence: 99%

“…Early diagnosis and treatment resulted in age-appropriate development, neurologic outcomes, and normal growth in all subjects. 6…”

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confidence: 99%

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Preventative Strategies in Congenital B12 Deficiency

Ganetzky

2021

The Journal of Pediatrics

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impact infant outcomes and complications. Other possible interactions are maternal magnesium sulfate to decrease brain injury and maternal antibiotics, these effects likely will depend on the pharmacokinetics for the drugs in the maternal and fetal compartments. 12 A final thought, association studies, for all their weaknesses, may be the only way to identify some important outcomes. A recent example is a neurodevelopment study of all newborns in Finland (population-based) showing that women exposed to antenatal steroids for a perceived risk for preterm delivery that delivered at term had multiple indications of adverse developmental effects when assessed at 10 years of age. 13 n

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Section: See Related Article P 42mentioning

confidence: 99%

Section: See Related Article P 42mentioning

confidence: 99%

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confidence: 99%

“…Early diagnosis and treatment resulted in age-appropriate development, neurologic outcomes, and normal growth in all subjects. 6…”

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confidence: 99%

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Preventative Strategies in Congenital B12 Deficiency

Ganetzky

2021

The Journal of Pediatrics

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“…In the screening for MCADD, 16% had a genotype predicting a mild phenotype, which may be one reason for the three times higher number of children diagnosed with MCADD in Denmark during screening than before [2,14] and a concern in relation to possible unnecessary medicalisation. The same may be true for the common mild variant (c.941C>T) in the IVD gene [30]. In the Danish screening algorithm for CF the low penetrant p.R117H variant is only reported if it is found on a 5T background, also representing a filtering of the screening cohort [17].…”

Section: Molecular Genetic Studies May Filter Diseases and Disease Subtypesmentioning

confidence: 99%

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Lund

Wibrand

Skogstrand

et al. 2021

IJNS

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Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and show that second-tier molecular genetic testing is useful to reduce the false positive rate while simultaneously providing information about the precise molecular genetic variant and thus informing therapeutic strategy and easing providing information to parents. When molecular genetic analyses are applied as second-tier testing, valuable functional data from biochemical methods are available and in our view, such targeted NGS technology should be implemented when possible in the NBS workflow. First-tier NGS technology may be a promising future possibility for disorders without a reliable biomarker and as a general approach to increase the adaptability of NBS for a broader range of genetic diseases, which is important in the current landscape of quickly evolving new therapeutic possibilities. However, studies on feasibility, sensitivity, and specificity are needed as well as more insight into what views the general population has towards using genetic analyses in NBS. This may be sensitive to some and could have potentially negative consequences for the NBS programme.

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The full blood count and blood film in healthy term and preterm neonates

2022

Neonatal Haematology

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Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated

Cited by 22 publications

References 29 publications

Preventative Strategies in Congenital B12 Deficiency

Preventative Strategies in Congenital B12 Deficiency

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

The full blood count and blood film in healthy term and preterm neonates

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