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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Barbara K Burton1,2, Joel Charrow1,2, George E Hoganson3
1Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.
Insights
Illinois
Area of Science:
- Biomedical Science
- Genetics
- Public Health
Background:
- Pompe disease, a rare genetic disorder, affects muscle function.
- Newborn screening (NBS) aims to detect genetic disorders early.
- Illinois implemented statewide NBS for Pompe disease in 2015.
Purpose of the Study:
- To evaluate the effectiveness and outcomes of Pompe disease newborn screening in Illinois.
- To determine the incidence of Pompe disease and other relevant findings in screened infants.
Main Methods:
- Analysis of data from Illinois' statewide newborn screening program for Pompe disease.
- Screening of 684,290 infants between 2015 and September 2019.
- Follow-up testing for screen-positive infants to confirm diagnosis.
Main Results:
- 395 infants (0.06%) were screen-positive.
- 29 cases of Pompe disease were identified (3 infantile, 26 late-onset).
- Other findings included carriers (62), pseudodeficiency (39), and inconclusive results (8).
Conclusions:
- Newborn screening for Pompe disease in Illinois identified both infantile and late-onset cases.
- The screening program detected a significant number of carriers and infants with pseudodeficiency.
- Further evaluation is needed for infants with inconclusive follow-up results.
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.
