The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear-Reference-Cited by-同舟云学术

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

Published:2024-06-18 Issue:2 Volume:10 Page:40
ISSN:2409-515X
Container-title:International Journal of Neonatal Screening
language:en
Short-container-title:IJNS

Author:

Knöpfli Stella¹,Goeschl Bernadette²,Zeyda Maximilian²^ORCID,Baghdasaryan Anna³^ORCID,Baumgartner-Kaut Margot²,Baumgartner Matthias R.¹⁴,Herle Marion²,Margreitter Julian⁵^ORCID,Poms Martin⁴⁶^ORCID,Wortmann Saskia B.⁷^ORCID,Konstantopoulou Vassiliki²,Huemer Martina¹⁸⁹^ORCID

Affiliation:

1. Division of Metabolism and Children’s Research Center, University Children’s Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland

2. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria

3. Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria

4. Newborn Screening Switzerland, Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland

5. Department of Child and Adolescent Health, Division of Pediatrics I—Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria

6. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland

7. University Children’s Hospital, Salzburger Landeskliniken and Paracelsus Medical University, 5020 Salzburg, Austria

8. Department of Pediatrics, LKH Bregenz, 6900 Bregenz, Austria

9. Vorarlberg University of Applied Sciences, Competence Area Healthcare and Nursing, 6850 Dornbirn, Austria

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.

Funder

Nutricia Metabolics, Germany

Austrian Society for Pediatrics

Publisher

MDPI AG

Link

https://www.mdpi.com/2409-515X/10/2/40/pdf

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