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 B12 deficiency identified by newborn screening (NBS). Study design Prospective multi-center observational study on health outcomes of 31 infants with vitamin B12 deficiency identified by NBS. Neurodevelopment was assessed by Denver Developmental Screening Test (DDST). Results In 285,862 newborns screened between 2016 to 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 B12 for a median (range) of 5.9 (1.1-16.2) months. All achieved age-appropriate test results in DDST at age 15 ( 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ) months and did not present with symptoms characteristic for vitamin B12 deficiency. Most (81%, N=25) mothers of affected newborns had a hitherto undiagnosed (functional) vitamin B12 deficiency, and, subsequently, received specific therapy. Conclusions Neonatal vitamin B12 deficiency can be screened by NBS, preventing the manifestation of irreversible neurological symptoms and the recurrence of vitamin B12 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 B12 deficiency highlights the need for improved prenatal care.