Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

B12D causes severe clinical symptoms in infants. NBS has a very limited retrospective detection rate of infants with severe B12D but seems to correlate with a reduction in cases due to not yet precisely quantified mechanisms. The workup triggered by NBS recalls is costly and often challenging for families. Maternal B12D increases the risk of infant B12D but also of other pregnancy-related health risks. To increase the efficacy of the prevention of infant B12D, to promote a healthy pregnancy and breastfeeding period, and to reduce the frequency of NBS recalls, pregnant women should be screened for B12D to be counselled and treated.

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Publication Details

Journal
Nutrients
Published
2025-11-16
DOI
https://doi.org/10.3390/nu17223583
Primary Topic
Folate and B Vitamins Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

Bianka Heinrich, Walter Bonfig, Franziska Righini‐Grunder, Hubert Kogler et al.
Nutrients
Folate and B Vitamins Research
article

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

Bianka Heinrich, Walter Bonfig, Franziska Righini‐Grunder, Hubert Kogler, Vassiliki Konstantopoulou, Julian Margreitter, Maximilian Zeyda, Alexander Laemmle, Christina L. Kaufman, Daniela Karall, Corinne Däster, Matthias R. Baumgartner, Nicolas von der Weid, Reta Malär, Martin Poms, Marion Herle, Rotraud Katharina Saurenmann, Susanna Sluka, Martina Huemer, V. Pöll, Pascal Müller
article en

Abstract

B12D causes severe clinical symptoms in infants. NBS has a very limited retrospective detection rate of infants with severe B12D but seems to correlate with a reduction in cases due to not yet precisely quantified mechanisms. The workup triggered by NBS recalls is costly and often challenging for families. Maternal B12D increases the risk of infant B12D but also of other pregnancy-related health risks. To increase the efficacy of the prevention of infant B12D, to promote a healthy pregnancy and breastfeeding period, and to reduce the frequency of NBS recalls, pregnant women should be screened for B12D to be counselled and treated.

NutrientsVol. 17(22)
University of Bern (CH), Innsbruck Medical University (AT), Universität Innsbruck (AT), Triemli Hospital (CH), University Hospital of Bern (CH), Comprehensive Cancer Center Vienna (AT), Kantonsspital Winterthur (CH), University of Teacher Education Lucerne (CH), Klinikum Wels-Grieskirchen (AT), Barmherzige Schwestern vom heiligen Kreuz (AT), St Anna Children's Hospital (AT), University Children’s Hospital Basel (CH), University Children's Hospital Zurich (CH), Kantonsspital Graubünden (CH), Kantonsspital Aarau (CH), Ostschweizer Kinderspital (CH), Technical University of Munich (DE), Vorarlberg University of Applied Sciences (AT), Medical University of Vienna (AT)
National Science Foundation, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Universität Zürich
Openalex Percentile: Top 50%
Folate and B Vitamins Research
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