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

Research output: Contribution to journal › Article › peer-review

34 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.

KW - Newborn screening

KW - Pompe disease

UR - https://www.scopus.com/pages/publications/85081662099

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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Keywords

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