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Incorporation of Second-Tier Tests and Secondary Biomarkers to Improve Positive Predictive Value (Ppv) Rate in Newborn Metabolic Screening Program Publisher Pubmed



Younesi S1 ; Yazdani B1 ; Taheri Amin MM1 ; Saadati P1 ; Jamali S1 ; Modarresi MH2 ; Savad S1 ; Amidi S1 ; Razavi H1 ; Ghafourifard S3
Authors
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Authors Affiliations
  1. 1. Nilou Laboratory, Tehran, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Journal of Clinical Laboratory Analysis Published:2022


Abstract

Background: Nowadays, neonatal screening has become an essential part of routine newborn care in the world. This is a non-invasive evaluation that evaluated inborn errors of metabolisms (IEMs) using tandem mass spectrometry (LC-MS/MS) for the evaluation of the baby's risk of certain metabolic disorders. Methods: This retrospective study was conducted on 39987 Iranian newborns who were referred to Nilou Medical Laboratory, Tehran, Iran, for newborn screening programs of IEMs. We incorporated second-tier tests and secondary biomarkers to improve positive predictive value (PPV). Results: Statistical data were recorded via call interviewing in 6–8 months after their screening tests. The overall prevalence of IEM was 1:975. The mean age of all participants was 3.9 ± 1.1 days; 5.1% of participants were over 13 days and 7.7% were preterm or underweight. A total of 11384 (29.4%) of the cases were born in a consanguineous family. The type of delivery was the cesarean section in 8332 (51.3%) valid cases. The neonatal screening results had an overall negative predictive value (NPV) of 100% and the overall PPV of 40.2%. The false-positive rate was 0.15%. Conclusion: This study showed a high incidence of metabolic disease due to a high rate of consanguineous marriages in Iran and indicated that incorporation of second-tier tests and secondary biomarkers improves PPV of neonatal screening programs. © 2022 Nilou Lab. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.