Vitamin B12 Deficiency Newborn Screening.
Journal
Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422
Informations de publication
Date de publication:
23 Jul 2024
23 Jul 2024
Historique:
received:
27
10
2023
revised:
02
05
2024
accepted:
02
05
2024
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
23
7
2024
Statut:
aheadofprint
Résumé
Vitamin B12 deficiency (VitB12D) might cause neuro-developmental impairment in the first year of life. Newborn screening (NBS) for VitB12D was shown to be technically feasible and early treated infants developed favorably. This study aims to evaluate the impact of NBS in prevention of symptomatic infantile VitB12D. In a nationwide surveillance study in cooperation with the German Pediatric Surveillance Unit, incident cases with VitB12D (<12 months of age) were prospectively collected from 2021 to 2022. In total, 61 cases of VitB12D reported to German Pediatric Surveillance Unit were analyzed, either identified by NBS (N = 31) or diagnosed after the onset of suggestive symptoms (non-NBS; N = 30). Ninety percent of the infants identified by NBS were still asymptomatic, whereas the non-NBS cohort presented at median 4 month of age with muscular hypotonia (68%), anemia (58%), developmental delay (44%), microcephalia (30%), and seizures (12%). Noteworthy, symptomatically diagnosed VitB12D in the first year of life was reported 4 times more frequently in infants who did not receive NBS for neonatal VitB12D (14 in 584 800) compared with those screened for VitB12D as newborns (4 in 688 200; Fisher's Exact Test, odds ratio 4.12 [95% confidence interval: 1.29-17.18], P = .008). The estimated overall cumulative incidence was 1:9600 newborns per year for neonatal VitB12D and 1:17 500 for symptomatic infantile VitB12D. NBS for neonatal VitB12D may lead to a fourfold risk reduction of developing symptomatic VitB12D in the first year of life compared with infants without NBS.
Sections du résumé
BACKGROUND
UNASSIGNED
Vitamin B12 deficiency (VitB12D) might cause neuro-developmental impairment in the first year of life. Newborn screening (NBS) for VitB12D was shown to be technically feasible and early treated infants developed favorably. This study aims to evaluate the impact of NBS in prevention of symptomatic infantile VitB12D.
METHODS
UNASSIGNED
In a nationwide surveillance study in cooperation with the German Pediatric Surveillance Unit, incident cases with VitB12D (<12 months of age) were prospectively collected from 2021 to 2022.
RESULTS
UNASSIGNED
In total, 61 cases of VitB12D reported to German Pediatric Surveillance Unit were analyzed, either identified by NBS (N = 31) or diagnosed after the onset of suggestive symptoms (non-NBS; N = 30). Ninety percent of the infants identified by NBS were still asymptomatic, whereas the non-NBS cohort presented at median 4 month of age with muscular hypotonia (68%), anemia (58%), developmental delay (44%), microcephalia (30%), and seizures (12%). Noteworthy, symptomatically diagnosed VitB12D in the first year of life was reported 4 times more frequently in infants who did not receive NBS for neonatal VitB12D (14 in 584 800) compared with those screened for VitB12D as newborns (4 in 688 200; Fisher's Exact Test, odds ratio 4.12 [95% confidence interval: 1.29-17.18], P = .008). The estimated overall cumulative incidence was 1:9600 newborns per year for neonatal VitB12D and 1:17 500 for symptomatic infantile VitB12D.
CONCLUSIONS
UNASSIGNED
NBS for neonatal VitB12D may lead to a fourfold risk reduction of developing symptomatic VitB12D in the first year of life compared with infants without NBS.
Identifiants
pubmed: 39040028
pii: 197804
doi: 10.1542/peds.2023-064809
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2024 by the American Academy of Pediatrics.
Déclaration de conflit d'intérêts
CONFLICT OF INTEREST DISCLOSURES: Dr Mütze received a research grant from the Medical Faculty of Heidelberg University, Germany. Drs Kölker, Hoffmann, and Mütze received research grants for their work on newborn screening from the Dietmar Hopp Foundation, St Leon-Rot, Germany (grants 23011220, 23011221, 1DH1911376, and 1DH2011117). Drs Hoffmann, Janzen, and Röschinger are PIs for NBS pilot studies including neonatal vitamin B12 deficiency. The other authors have no conflicts of interest relevant to this article to disclose.