Evidence map›Paper›PMID 38920847›Full record

ArticleInternational journal of neonatal screening2024

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Stella KnöpfliDivision of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.
Bernadette GoeschlDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.
Maximilian ZeydaDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.ORCID 0000-0001-5000-1974
Anna BaghdasaryanDivision of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.ORCID 0000-0003-1026-706X
Margot Baumgartner-KautDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.
Matthias R BaumgartnerDivision of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.
Marion HerleDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.
Julian MargreitterDepartment of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0009-0008-9678-8096
Martin PomsNewborn Screening Switzerland, Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland.ORCID 0000-0002-4426-314X
Saskia B WortmannUniversity Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, 5020 Salzburg, Austria.ORCID 0000-0002-1968-8103
Vassiliki KonstantopoulouDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.
Martina HuemerDivision of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.ORCID 0000-0002-0590-678X

Funding

Austrian Society of Paediatrics noneNutricia Metabolics (Danone) None
6 · The paper itself

Abstract

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable.

Indexed as

breastfeedingcobalaminhomocysteinemethylmalonic acid

Identifiers

PMID38920847
PMCPMC11203543

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.