Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hoang, Stephanie C., Blumenschein, Pamela, Lilley, Margaret, Olshaski, Larissa, Bruce, Aisha, Wright, Nicola A. M., Ridsdale, Ross, Christian, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1785029701329223680
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
work_keys_str_mv AT hoangstephaniec secondaryreportingofg6pddeficiencyonnewbornscreening
AT blumenscheinpamela secondaryreportingofg6pddeficiencyonnewbornscreening
AT lilleymargaret secondaryreportingofg6pddeficiencyonnewbornscreening
AT olshaskilarissa secondaryreportingofg6pddeficiencyonnewbornscreening
AT bruceaisha secondaryreportingofg6pddeficiencyonnewbornscreening
AT wrightnicolaam secondaryreportingofg6pddeficiencyonnewbornscreening
AT ridsdaleross secondaryreportingofg6pddeficiencyonnewbornscreening
AT christiansusan secondaryreportingofg6pddeficiencyonnewbornscreening