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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS
Maria Miguel Gonçalves1,2, Ana Marcão1, Carmen Sousa1
1Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, 4000-053 Porto, Portugal.
International Journal of Neonatal Screening
|March 27, 2024
Summary
Portugal
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- The Portuguese Neonatal Screening Program (PNSP) screens nearly all neonates for 28 disorders, including 24 inborn errors of metabolism (IEMs).
- Tandem mass spectrometry (MS/MS) is utilized for analyzing amino acids and acylcarnitines in dried blood spots.
Purpose of the Study:
- To determine the epidemiology of screened metabolic diseases in Portugal.
- To evaluate the effectiveness of second-tier testing (2TT) in the PNSP.
Main Methods:
- Screening of 1,764,830 neonates from 2004 to 2022 using MS/MS.
- Application of 2TT for specific cases.
- Diagnostic confirmation through biochemical and molecular studies.
Main Results:
- Identified 677 patients with IEMs, resulting in a birth prevalence of 1:2607.
- 2TT significantly reduced false positives and improved diagnostic accuracy.
- Detected 59 maternal IEM cases.
Conclusions:
- MS/MS is a transformative technology for neonatal screening.
- 2TT enhances the sensitivity, specificity, and positive predictive value of screening.
- Neonatal screening for IEMs in Portugal is efficient and robust, enabling early diagnoses.
Keywords:
Portuguese neonatal screening programinborn errors of metabolism (IEM)neonatal screeningsecond-tier testing (2TT)More Related Videos
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