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Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified
Samuel Stanovský1, Josef Bártl1, Petr Chrastina1
1Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, 128 08 Prague, Czech Republic.
Insights
Newborn screening for vitamin B12 deficiency is feasible and effective. Early detection and treatment of neonatal vitamin B12 deficiency prevent neurodevelopmental harm.
Area of Science:
- Biochemistry
- Neonatal Medicine
- Public Health
Background:
- Neonatal vitamin B12 deficiency poses a risk for neurodevelopmental outcomes.
- Newborn screening (NBS) offers a potential strategy for early detection and intervention.
Purpose of the Study:
- To evaluate the feasibility, cost-effectiveness, and clinical utility of incorporating vitamin B12 deficiency screening into the Czech NBS program.
Main Methods:
- A multicenter pilot study utilizing flow-injection tandem mass spectrometry for primary markers and methylmalonic acid (MMA) for second-tier testing.
- Screening of 34,302 newborns, with confirmatory testing for infants with elevated MMA levels.
Main Results:
- A birth frequency of 1:4228 for vitamin B12 deficiency was identified.
- The positive predictive value for the primary test and second-tier MMA was 0.59% and 88.89%, respectively.
- Affected infants were successfully treated with oral cyanocobalamin, and maternal work-up revealed B12 deficiency and gastric changes in some mothers.
Conclusions:
- Incorporating vitamin B12 deficiency screening into the Czech NBS program is feasible, cost-effective, and clinically beneficial.
- The screening approach demonstrated high specificity and positive predictive value for second-tier testing.
- Benefits extend to maternal health, identifying undiagnosed B12 deficiency and premalignant conditions.
Abstract:
Neonatal vitamin B12 (B12) deficiency can cause neurodevelopmental harm, and newborn screening (NBS) may enable early detection and treatment. We conducted a multicenter pilot project in four Prague university hospitals between 1 June 2022 and 30 June 2025. Algorithms included the determination of propionylcarnitine-derived primary markers using flow-injection tandem mass spectrometry and second-tier methylmalonic acid (MMA), with total homocysteine measured only when MMA was increased. Of 34,302 screened newborns with consent, 1365 (3.98%) triggered second-tier testing; 9 had MMA > 2.5 µmol/L, of which 8 met the case definition after confirmatory testing, giving a birth frequency of 1:4228 (95% CI 1:2176-1:9931). Positive predictive value was 0.59% (95% CI 0.25-1.15%) and 88.89% (95% CI 51.75-99.72%) for the primary test and second-tier MMA, respectively, with a false positive rate of 0.00292% (95% CI 0.000074-0.01625%). All affected infants were treated orally with cyanocobalamin. Maternal work-up identified confirmed B12 deficiency in four of eight mothers and premalignant gastric changes in two of four positive women. These data support the feasibility, low cost, and clinical utility of incorporating B12 deficiency into Czech NBS, with benefits extending beyond newborn health.
