Secondary Reporting of G6PD Deficiency on Newborn Screening. 2023

Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
Genetics & Genomics, Alberta Precision Laboratories, Edmonton, AB T6G 2H7, Canada.

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.

UI MeSH Term Description Entries

Related Publications

Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 1984, Indian journal of pediatrics,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2014, Indian journal of pediatrics,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
June 1969, Archives of disease in childhood,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2015, Indian journal of public health,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2020, Human mutation,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2010, Archives de l'Institut Pasteur de Tunis,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2003, Annals of Saudi medicine,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
January 2021, Frontiers in genetics,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
May 1987, Archives francaises de pediatrie,
Stephanie C Hoang, and Pamela Blumenschein, and Margaret Lilley, and Larissa Olshaski, and Aisha Bruce, and Nicola A M Wright, and Ross Ridsdale, and Susan Christian
December 1979, Nihon rinsho. Japanese journal of clinical medicine,
Copied contents to your clipboard!