A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
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,...
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MDPI AG
2022-12-01
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Series: | International Journal of Neonatal Screening |
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Online Access: | https://www.mdpi.com/2409-515X/8/4/66 |
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author | Ulf Wike Ljungblad Morten Lindberg Erik A. Eklund Ingjerd Sæves Carlos Sagredo Anne-Lise Bjørke-Monsen Trine Tangeraas |
author_facet | Ulf Wike Ljungblad Morten Lindberg Erik A. Eklund Ingjerd Sæves Carlos Sagredo Anne-Lise Bjørke-Monsen Trine Tangeraas |
author_sort | Ulf Wike Ljungblad |
collection | DOAJ |
description | 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, <i>p</i> = 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. |
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series | International Journal of Neonatal Screening |
spelling | doaj.art-202808ac5ff54ac18e51c226866bf4ec2023-11-24T15:35:33ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-12-01846610.3390/ijns8040066A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of AgeUlf Wike Ljungblad0Morten Lindberg1Erik A. Eklund2Ingjerd Sæves3Carlos Sagredo4Anne-Lise Bjørke-Monsen5Trine Tangeraas6Institute of Clinical Medicine, University of Oslo, P.O. Box 1171, Blindern, 0318 Oslo, NorwayDepartment of Medical Biochemistry, Vestfold Hospital Trust, P.O. Box 1068, 3103 Tønsberg, NorwayDepartment of Pediatrics, Clinical Sciences, Lund, Lund University, 221 84 Lund, SwedenNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Pharmacology, Division of Laboratory Medicine, Oslo University Hospital, 0424 Oslo, NorwayLaboratory of Medical Biochemistry, Innlandet Hospital Trust, 2609 Lillehammer, NorwayNorwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayBackground: 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, <i>p</i> = 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.https://www.mdpi.com/2409-515X/8/4/66vitamin B12 deficiencyhomocysteineinfantnewborn screeningnitrous oxidesecond-tier |
spellingShingle | Ulf Wike Ljungblad Morten Lindberg Erik A. Eklund Ingjerd Sæves Carlos Sagredo Anne-Lise Bjørke-Monsen Trine Tangeraas A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age International Journal of Neonatal Screening vitamin B12 deficiency homocysteine infant newborn screening nitrous oxide second-tier |
title | A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age |
title_full | A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age |
title_fullStr | A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age |
title_full_unstemmed | A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age |
title_short | A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age |
title_sort | retrospective evaluation of the predictive value of newborn screening for vitamin b12 deficiency in symptomatic infants below 1 year of age |
topic | vitamin B12 deficiency homocysteine infant newborn screening nitrous oxide second-tier |
url | https://www.mdpi.com/2409-515X/8/4/66 |
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