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Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Jamie Matteson1, Stanley Sciortino1, Lisa Feuchtbaum1
1Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA.
International Journal of Neonatal Screening
|April 30, 2021
Summary
California
Area of Science:
- Genetics
- Newborn Screening
- Endocrinology
Background:
- X-linked adrenoleukodystrophy (ALD) is a serious genetic disorder.
- Newborn screening for ALD is expanding nationally.
- California implemented ALD screening in 2016.
Purpose of the Study:
- To report California's experience with ALD newborn screening.
- To analyze clinical and epidemiological outcomes.
- To identify program implementation challenges.
Main Methods:
- Retrospective cohort study.
- Analysis of 1,854,631 newborn screening results from Feb 2016-Feb 2020.
- Clinical outcome follow-up for positive screens.
Main Results:
- 355 newborns screened positive for ALD.
- 95 males diagnosed with ALD.
- ALD birth prevalence of 1 in 14,397 males.
- 14 males showed signs of adrenal involvement.
Conclusions:
- California's ALD newborn screening program identified affected infants.
- The study provides valuable data for other states implementing ALD screening.
- Long-term outcomes indicate the importance of early detection.
