Neonatal Vitamin B12 Screening Cuts Risk of Symptomatic Deficiency by Fourfold in Infants: Study

Germany: A study published in the Pediatrics Journal revealed that newborn screening for neonatal vitamin B12 deficiency can reduce the risk of developing symptomatic vitamin B12 deficiency in the first year of life by four times compared to infants who do not undergo newborn screening.

Vitamin B12 deficiency can lead to neuro-developmental impairments within the first year of life. Newborn screening for Vitamin B12 deficiency has proven to be technically feasible, and early treatment has resulted in positive developmental outcomes for infants. This study aims to assess the effectiveness of newborn screening in preventing symptomatic Vitamin B12 deficiency in infants.

Dr. Ulrike Mütze, Divisions of Child Neurology and Metabolic Medicine et. al. conducted a study to evaluate the effectiveness of newborn screening for Vitamin B12 deficiency.

A nationwide surveillance study was conducted in collaboration with the German Pediatric Surveillance Unit to gather data for this research. Incident cases of Vitamin B12 deficiency in infants under 12 months old were prospectively collected from 2021 to 2022.

The key findings of the research were as follows:

• A total of 61 cases of Vitamin B12 deficiency were analyzed by the German Pediatric Surveillance Unit.
• These cases were identified either through newborn screening (N = 31) or after the onset of suggestive symptoms (N = 30).
• Ninety percent of infants identified by newborn screening were still asymptomatic.
  
• The non-NBS cohort presented at a median age of 4 months with symptoms such as muscular hypotonia (68%), anemia (58%), developmental delay (44%), microcephalia (30%), and seizures (12%).
• Symptomatically diagnosed Vitamin B12 deficiency in the first year of life was reported four times more frequently in infants who did not receive newborn screening compared to those who were screened as newborns.
  
• The estimated overall cumulative incidence was 1:9600 newborns per year for neonatal Vitamin B12 deficiency and 1:17,500 for symptomatic infantile VitB12D.
  

Researchers concluded that newborn screening for neonatal vitamin B12 deficiency can decrease the risk of developing symptomatic vitamin B12 deficiency within the first year of life by a factor of four compared to infants who do not receive such screening.

Reference:

Ulrike Mütze, Florian Gleich, Dorothea Haas, Michael S. Urschitz, Wulf Röschinger, Nils Janzen, Georg F. Hoffmann, Sven F. Garbade, Steffen Syrbe, Stefan Kölker; Vitamin B12 Deficiency Newborn Screening. Pediatrics August 2024; 154 (2): e2023064809. 10.1542/peds.2023-064809