Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated

Objective To evaluate the clinical outcomes at age 1.5 +/- 0.5 years of infants with vitamin B-12 deficiency identified by newborn screening (NBS). Study design Prospective multicenter observational study on health outcomes of 31 infants with vitamin B-12 deficiency identified by NBS. Neurodevelopment was assessed by the Denver Developmental Screening Test. Results In 285 862 newborns screened between 2016 and 2019, the estimated birth prevalence of vitamin B12 deficiency was 26 in 100 000 newborns, with high seasonal variations (lowest in summer: 8 in 100 000). Infants participating in the outcome study (N = 31) were supplemented with vitamin B-12 for a median (range) of 5.9 (1.1-16.2) months. All achieved age-appropriate test results in Denver Developmental Screening Test at age 15 (11-23) months and did not present with symptoms characteristic for vitamin B-12 deficiency. Most (81%, n = 25) mothers of affected newborns had a hitherto undiagnosed (functional) vitamin B-12 deficiency, and, subsequently, received specific therapy. Conclusions Neonatal vitamin B-12 deficiency can be screened by NBS, preventing the manifestation of irreversible neurologic symptoms and the recurrence of vitamin B-12 deficiency in future pregnancies through adequate treatment of affected newborns and their mothers. The high frequency of mothers with migrant background having a newborn with vitamin B-12 deficiency highlights the need for improved prenatal care.

Automated summary

The study evaluated the clinical outcomes of infants with vitamin B-12 deficiency identified through newborn screening at 1.5 years old, finding that all affected infants achieved age-appropriate neurodevelopmental test results at 15 months without characteristic symptoms of vitamin B-12 deficiency. Most mothers of affected infants also had undiagnosed vitamin B-12 deficiency and received specific treatment.