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Vitamin B12 Deficiency Newborn Screening.

Ulrike Mütze1, Florian Gleich1, Dorothea Haas1

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Newborn screening for Vitamin B12 deficiency (VitB12D) significantly reduces the risk of infants developing symptomatic conditions. Early detection through NBS prevents neurodevelopmental impairment in newborns.

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Area of Science:

  • Pediatric Neurology
  • Neonatal Screening
  • Nutritional Deficiencies

Background:

  • Vitamin B12 deficiency (VitB12D) can cause neurodevelopmental impairment in infants.
  • Newborn screening (NBS) for VitB12D is feasible and allows for favorable early treatment outcomes.
  • Evaluating the impact of NBS on preventing symptomatic infantile VitB12D is crucial.

Purpose of the Study:

  • To assess the effectiveness of newborn screening (NBS) in preventing symptomatic Vitamin B12 deficiency (VitB12D) in infants.
  • To compare the incidence of symptomatic VitB12D in infants with and without NBS.

Main Methods:

  • A nationwide surveillance study in Germany prospectively collected incident cases of VitB12D in infants under 12 months.
  • Data were gathered from 2021 to 2022 in cooperation with the German Pediatric Surveillance Unit.
  • Cases were analyzed based on identification through NBS versus diagnosis after symptom onset.

Main Results:

  • 61 cases of VitB12D were analyzed; 31 were identified by NBS and 30 diagnosed after symptoms.
  • Infants identified by NBS were predominantly asymptomatic (90%), while the non-NBS group presented with hypotonia, anemia, and developmental delay.
  • Symptomatic VitB12D was diagnosed 4 times more frequently in infants without NBS (OR 4.12, P = .008).

Conclusions:

  • Newborn screening for Vitamin B12 deficiency significantly reduces the risk of infants developing symptomatic disease.
  • NBS for neonatal VitB12D may lead to a fourfold risk reduction in symptomatic cases within the first year of life.
  • Early detection and intervention through NBS are vital for preventing adverse neurodevelopmental outcomes in infants.