{Author 1 (Prefix):11.2} {Author 1 (Last):11.6}

TitelNeugeborenenscreening auf Vitamin B12 Mangel: sinnvoll oder nicht?
Einleitung

In contrast to the Swiss newborn screening (S_NBS) the Austrian (A_NBS) includes screening for inborn errors of the vitamin B12 (B12) pathway and identifies also significant numbers of neonates with secondary, maternally mediated B12 deficiency. To prevent severe infantile B12 deficiency, selective diagnostics and treatment are initiated by the A_NBS. It is unclear, whether this strategy is effective balanced with the burden for children, families, and medical system.

Patient/en und Methoden

a) Retrospective cohort identification, prospective follow-up: S_NBS data are retrospectively analysed according to the A_NBS algorithm. Phone developmental interviews (Vineland scales) are conducted with parents between months 10-14 of life of their children.
b) Back tracing and re-analysis according to the A_NBS algorithm of S_NBS results from children clinically diagnosed as B12 deficient.

Ergebnisse

a) From 29‘539 unselected Swiss children, 893 were A_NBS 1st tier positive (acylcarnitines, methionine) for B12 deficiency. Second tier testing (total homocysteine) was possible in 797 cases and proved positive in 32. So far, Vineland developmental interview assessments showed normal results in 80% of cases.
b) Two infants recently clinically diagnosed as B12 deficient would have been missed by the A-NBS algorithm.

Schlussfolgerung/Diskussion

So far, our results do not support that the A_NBS algorithm benefits the aim of detecting clinically relevant vitamin B12 deficiency in newborns. Counseling of pregnant women and assessment of vitamin B12 status in those with a suggestive history (e.g. vegan diet, bariatric surgery, impaired maternal B12 uptake) may be more effective and less burdensome for patients and families.

Autor*in 1Stella Knöpfli Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland
Autor*in 2Christina Kaufman Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland
Autor*in 3Matthias Baumgartner Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland
Autor*in 4Bernadette Göschl Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
Autor*in 5Vassiliki Konstantopoulou Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
Autor*in 6Martin Poms Newborn Screening Switzerland, Division of Clinical Chemistry and Biochemistry, University Children’s Hospital Zurich, University of Zurich, Zurich, Switzerland
Autor*in 7Marianne Rohrbach Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland
Autor*in 8Maximilian Zeyda Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
Autor*in 9Marion Herle Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria.
Autor*in 10Martina Huemer LKH Bregenz, Bregenz, Austria & Division of Metabolism Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland