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A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age

Ljungblad, Ulf Wike ; Lindberg, Morten ; Eklund, Erik A. LU ; Sæves, Ingjerd ; Sagredo, Carlos ; Bjørke-Monsen, Anne Lise and Tangeraas, Trine (2022) In International Journal of Neonatal Screening 8(4).
Abstract

Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether being born in a hospital using nitrous oxide (N2O) as pain relief in labor may have had an impact on total homocysteine at NBS. Methods: We retrospectively retrieved NBS data and analyzed total homocysteine, methylmalonic acid and methyl citrate on stored NBS dried blood spots (DBS) of 70 infants diagnosed with symptomatic B12 deficiency and compared them to 646 matched and 434 unmatched DBS controls to... (More)

Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether being born in a hospital using nitrous oxide (N2O) as pain relief in labor may have had an impact on total homocysteine at NBS. Methods: We retrospectively retrieved NBS data and analyzed total homocysteine, methylmalonic acid and methyl citrate on stored NBS dried blood spots (DBS) of 70 infants diagnosed with symptomatic B12 deficiency and compared them to 646 matched and 434 unmatched DBS controls to evaluate the Austrian and Heidelberg B12 NBS algorithms. Results: The sensitivity of NBS in detecting infants later diagnosed with symptomatic B12 deficiency at median age 10.9 weeks was ≤10%. Total homocysteine was higher in DBS for the unmatched controls who were born in hospitals providing N2O compared to in hospitals not providing N2O, with median total homocysteine 4.0 µmol/L compared to 3.5 µmol/L (n = 434, 95% CI 0.04–0.87, p = 0.03). Conclusion: NBS algorithms were unable to identify most infants diagnosed with symptomatic B12 deficiency after the neonatal period. Being born in hospitals providing N2O may impact total homocysteine at NBS.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
homocysteine, infant, newborn screening, nitrous oxide, second-tier, vitamin B12, vitamin B12 deficiency
in
International Journal of Neonatal Screening
volume
8
issue
4
article number
66
publisher
MDPI AG
external identifiers
  • scopus:85144735715
  • pmid:36547383
ISSN
2409-515X
DOI
10.3390/ijns8040066
language
English
LU publication?
yes
id
d452ed93-a58a-4c7c-a26a-66942a1958ba
date added to LUP
2023-01-05 11:57:47
date last changed
2024-04-18 17:40:27
@article{d452ed93-a58a-4c7c-a26a-66942a1958ba,
  abstract     = {{<p>Background: The sensitivity of newborn screening (NBS) in detecting infants that later develop symptomatic vitamin B12 deficiency is unknown. We evaluated the predictive value using NBS algorithms in detecting infants that later were clinically diagnosed with symptomatic B12 deficiency. Furthermore, we investigated whether being born in a hospital using nitrous oxide (N<sub>2</sub>O) as pain relief in labor may have had an impact on total homocysteine at NBS. Methods: We retrospectively retrieved NBS data and analyzed total homocysteine, methylmalonic acid and methyl citrate on stored NBS dried blood spots (DBS) of 70 infants diagnosed with symptomatic B12 deficiency and compared them to 646 matched and 434 unmatched DBS controls to evaluate the Austrian and Heidelberg B12 NBS algorithms. Results: The sensitivity of NBS in detecting infants later diagnosed with symptomatic B12 deficiency at median age 10.9 weeks was ≤10%. Total homocysteine was higher in DBS for the unmatched controls who were born in hospitals providing N<sub>2</sub>O compared to in hospitals not providing N<sub>2</sub>O, with median total homocysteine 4.0 µmol/L compared to 3.5 µmol/L (n = 434, 95% CI 0.04–0.87, p = 0.03). Conclusion: NBS algorithms were unable to identify most infants diagnosed with symptomatic B12 deficiency after the neonatal period. Being born in hospitals providing N<sub>2</sub>O may impact total homocysteine at NBS.</p>}},
  author       = {{Ljungblad, Ulf Wike and Lindberg, Morten and Eklund, Erik A. and Sæves, Ingjerd and Sagredo, Carlos and Bjørke-Monsen, Anne Lise and Tangeraas, Trine}},
  issn         = {{2409-515X}},
  keywords     = {{homocysteine; infant; newborn screening; nitrous oxide; second-tier; vitamin B12; vitamin B12 deficiency}},
  language     = {{eng}},
  number       = {{4}},
  publisher    = {{MDPI AG}},
  series       = {{International Journal of Neonatal Screening}},
  title        = {{A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age}},
  url          = {{http://dx.doi.org/10.3390/ijns8040066}},
  doi          = {{10.3390/ijns8040066}},
  volume       = {{8}},
  year         = {{2022}},
}