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

doi:10.3390/ijns9020018

Open AccessArticle

Secondary Reporting of G6PD Deficiency on Newborn Screening

by

Stephanie C. Hoang

^1,2,*

,

Pamela Blumenschein

^1,2

,

Margaret Lilley

^1,2

,

Larissa Olshaski

²,

Aisha Bruce

³,

Nicola A. M. Wright

⁴

,

Ross Ridsdale

^1,2 and

Susan Christian

^1,2

¹

Genetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada

²

Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada

³

Pediatric Hematology, Stollery Children’s Hospital, Edmonton, AB T6G 2B7, Canada

⁴

Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada

^*

Author to whom correspondence should be addressed.

Int. J. Neonatal Screen. 2023, 9(2), 18; https://doi.org/10.3390/ijns9020018

Submission received: 28 December 2022 / Revised: 17 March 2023 / Accepted: 22 March 2023 / Published: 27 March 2023

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Abstract

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.

Keywords: newborn screening; galactosemia; galactose-6-phosphate dehydrogenase deficiency; G6PD deficiency

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MDPI and ACS Style

Hoang, S.C.; Blumenschein, P.; Lilley, M.; Olshaski, L.; Bruce, A.; Wright, N.A.M.; Ridsdale, R.; Christian, S. Secondary Reporting of G6PD Deficiency on Newborn Screening. Int. J. Neonatal Screen. 2023, 9, 18. https://doi.org/10.3390/ijns9020018

AMA Style

Hoang SC, Blumenschein P, Lilley M, Olshaski L, Bruce A, Wright NAM, Ridsdale R, Christian S. Secondary Reporting of G6PD Deficiency on Newborn Screening. International Journal of Neonatal Screening. 2023; 9(2):18. https://doi.org/10.3390/ijns9020018

Chicago/Turabian Style

Hoang, Stephanie C., Pamela Blumenschein, Margaret Lilley, Larissa Olshaski, Aisha Bruce, Nicola A. M. Wright, Ross Ridsdale, and Susan Christian. 2023. "Secondary Reporting of G6PD Deficiency on Newborn Screening" International Journal of Neonatal Screening 9, no. 2: 18. https://doi.org/10.3390/ijns9020018

APA Style

Hoang, S. C., Blumenschein, P., Lilley, M., Olshaski, L., Bruce, A., Wright, N. A. M., Ridsdale, R., & Christian, S. (2023). Secondary Reporting of G6PD Deficiency on Newborn Screening. International Journal of Neonatal Screening, 9(2), 18. https://doi.org/10.3390/ijns9020018

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Secondary Reporting of G6PD Deficiency on Newborn Screening

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