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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-03-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/9/2/18 |
| _version_ | 1797594235133755392 |
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| author | Stephanie C. Hoang Pamela Blumenschein Margaret Lilley Larissa Olshaski Aisha Bruce Nicola A. M. Wright Ross Ridsdale Susan Christian |
| author_facet | Stephanie C. Hoang Pamela Blumenschein Margaret Lilley Larissa Olshaski Aisha Bruce Nicola A. M. Wright Ross Ridsdale Susan Christian |
| author_sort | Stephanie C. Hoang |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T02:20:43Z |
| format | Article |
| id | doaj.art-c6c46ef31a8545b29c13060904e0966b |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-11T02:20:43Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-c6c46ef31a8545b29c13060904e0966b2023-11-18T10:53:11ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2023-03-01921810.3390/ijns9020018Secondary Reporting of G6PD Deficiency on Newborn ScreeningStephanie C. Hoang0Pamela Blumenschein1Margaret Lilley2Larissa Olshaski3Aisha Bruce4Nicola A. M. Wright5Ross Ridsdale6Susan Christian7Genetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, CanadaGenetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, CanadaGenetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, CanadaDepartment of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, CanadaPediatric Hematology, Stollery Children’s Hospital, Edmonton, AB T6G 2B7, CanadaDepartment of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, CanadaGenetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, CanadaGenetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, CanadaIn 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.https://www.mdpi.com/2409-515X/9/2/18newborn screeninggalactosemiagalactose-6-phosphate dehydrogenase deficiencyG6PD deficiency |
| spellingShingle | Stephanie C. Hoang Pamela Blumenschein Margaret Lilley Larissa Olshaski Aisha Bruce Nicola A. M. Wright Ross Ridsdale Susan Christian Secondary Reporting of G6PD Deficiency on Newborn Screening International Journal of Neonatal Screening newborn screening galactosemia galactose-6-phosphate dehydrogenase deficiency G6PD deficiency |
| 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 | newborn screening galactosemia galactose-6-phosphate dehydrogenase deficiency G6PD deficiency |
| url | https://www.mdpi.com/2409-515X/9/2/18 |
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