Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Barbara K. Burton; Joel Charrow; George E. Hoganson; Julie Fleischer; Dorothy K. Grange; Stephen R. Braddock; Lauren Hitchins; Rachel Hickey; Katherine M. Christensen; Daniel Groepper; Heather Shryock; Pamela Smith; Rong Shao; Khaja Basheeruddin

doi:10.3390/ijns6010004

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

Barbara K. Burton, Joel Charrow, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Lauren Hitchins, Rachel Hickey, Katherine M. Christensen, Daniel Groepper, Heather Shryock, Pamela Smith, Rong Shao, Khaja Basheeruddin

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24 Scopus citations

Abstract

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.

Original language	English
Article number	285
Journal	International Journal of Neonatal Screening
Volume	6
Issue number	1
DOIs	https://doi.org/10.3390/ijns6010004
State	Published - 2020

Keywords

Newborn screening
Pompe disease

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10.3390/ijns6010004

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Burton, B. K., Charrow, J., Hoganson, G. E., Fleischer, J., Grange, D. K., Braddock, S. R., Hitchins, L., Hickey, R., Christensen, K. M., Groepper, D., Shryock, H., Smith, P., Shao, R., & Basheeruddin, K. (2020). Newborn screening for pompe disease in Illinois: Experience with 684,290 infants. International Journal of Neonatal Screening, 6(1), Article 285. https://doi.org/10.3390/ijns6010004

@article{c9c4643cd9a4432797aba14ba1701fe0,

title = "Newborn screening for pompe disease in Illinois: Experience with 684,290 infants",

abstract = "Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.",

keywords = "Newborn screening, Pompe disease",

author = "Burton, {Barbara K.} and Joel Charrow and Hoganson, {George E.} and Julie Fleischer and Grange, {Dorothy K.} and Braddock, {Stephen R.} and Lauren Hitchins and Rachel Hickey and Christensen, {Katherine M.} and Daniel Groepper and Heather Shryock and Pamela Smith and Rong Shao and Khaja Basheeruddin",

note = "Publisher Copyright: {\textcopyright} 2020 by the authors.",

year = "2020",

doi = "10.3390/ijns6010004",

language = "English",

volume = "6",

journal = "International Journal of Neonatal Screening",

issn = "2409-515X",

number = "1",

}

Burton, BK, Charrow, J, Hoganson, GE, Fleischer, J, Grange, DK, Braddock, SR, Hitchins, L, Hickey, R, Christensen, KM, Groepper, D, Shryock, H, Smith, P, Shao, R & Basheeruddin, K 2020, 'Newborn screening for pompe disease in Illinois: Experience with 684,290 infants', International Journal of Neonatal Screening, vol. 6, no. 1, 285. https://doi.org/10.3390/ijns6010004

TY - JOUR

T1 - Newborn screening for pompe disease in Illinois

T2 - Experience with 684,290 infants

AU - Burton, Barbara K.

AU - Charrow, Joel

AU - Hoganson, George E.

AU - Fleischer, Julie

AU - Grange, Dorothy K.

AU - Braddock, Stephen R.

AU - Hitchins, Lauren

AU - Hickey, Rachel

AU - Christensen, Katherine M.

AU - Groepper, Daniel

AU - Shryock, Heather

AU - Smith, Pamela

AU - Shao, Rong

AU - Basheeruddin, Khaja

PY - 2020

Y1 - 2020

N2 - Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.

AB - Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing.

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KW - Pompe disease

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U2 - 10.3390/ijns6010004

DO - 10.3390/ijns6010004

M3 - Article

C2 - 33073003

AN - SCOPUS:85081662099

SN - 2409-515X

VL - 6

JO - International Journal of Neonatal Screening

JF - International Journal of Neonatal Screening

IS - 1

M1 - 285

ER -

Newborn screening for pompe disease in Illinois: Experience with 684,290 infants

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