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Secondary Reporting of G6PD Deficiency on Newborn Screening
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the per...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123647/ https://www.ncbi.nlm.nih.gov/pubmed/37092512 http://dx.doi.org/10.3390/ijns9020018 |
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author | Hoang, Stephanie C. Blumenschein, Pamela Lilley, Margaret Olshaski, Larissa Bruce, Aisha Wright, Nicola A. M. Ridsdale, Ross Christian, Susan |
author_facet | Hoang, Stephanie C. Blumenschein, Pamela Lilley, Margaret Olshaski, Larissa Bruce, Aisha Wright, Nicola A. M. Ridsdale, Ross Christian, Susan |
author_sort | Hoang, Stephanie C. |
collection | PubMed |
description | In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a two-tier galactosemia screening protocol, (ii) to explore the impact on and acceptability to families of reporting G6PD deficiency as a secondary finding, and (iii) assess the communication and follow-up process for positive G6PD deficiency screening results. The two-tiered galactosemia approach increased the positive predictive value (PPV) for galactosemia from 8% to 79%. An additional 119 positive newborn screen results were reported for G6PD deficiency with a PPV of 92%. The results show that there may be utility in reporting G6PD deficiency results. Most parents who participated in the study reported having some residual worry around the unexpected diagnosis; however, all thought it was helpful to know of their child’s diagnosis of G6PD deficiency. Finally, the communication process for reporting G6PD deficiency newborn screen results was determined to result in appropriate follow up of infants. |
format | Online Article Text |
id | pubmed-10123647 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101236472023-04-25 Secondary Reporting of G6PD Deficiency on Newborn Screening Hoang, Stephanie C. Blumenschein, Pamela Lilley, Margaret Olshaski, Larissa Bruce, Aisha Wright, Nicola A. M. Ridsdale, Ross Christian, Susan Int J Neonatal Screen Article In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a two-tier galactosemia screening protocol, (ii) to explore the impact on and acceptability to families of reporting G6PD deficiency as a secondary finding, and (iii) assess the communication and follow-up process for positive G6PD deficiency screening results. The two-tiered galactosemia approach increased the positive predictive value (PPV) for galactosemia from 8% to 79%. An additional 119 positive newborn screen results were reported for G6PD deficiency with a PPV of 92%. The results show that there may be utility in reporting G6PD deficiency results. Most parents who participated in the study reported having some residual worry around the unexpected diagnosis; however, all thought it was helpful to know of their child’s diagnosis of G6PD deficiency. Finally, the communication process for reporting G6PD deficiency newborn screen results was determined to result in appropriate follow up of infants. MDPI 2023-03-27 /pmc/articles/PMC10123647/ /pubmed/37092512 http://dx.doi.org/10.3390/ijns9020018 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Hoang, Stephanie C. Blumenschein, Pamela Lilley, Margaret Olshaski, Larissa Bruce, Aisha Wright, Nicola A. M. Ridsdale, Ross Christian, Susan Secondary Reporting of G6PD Deficiency on Newborn Screening |
title | Secondary Reporting of G6PD Deficiency on Newborn Screening |
title_full | Secondary Reporting of G6PD Deficiency on Newborn Screening |
title_fullStr | Secondary Reporting of G6PD Deficiency on Newborn Screening |
title_full_unstemmed | Secondary Reporting of G6PD Deficiency on Newborn Screening |
title_short | Secondary Reporting of G6PD Deficiency on Newborn Screening |
title_sort | secondary reporting of g6pd deficiency on newborn screening |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123647/ https://www.ncbi.nlm.nih.gov/pubmed/37092512 http://dx.doi.org/10.3390/ijns9020018 |
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