Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program.

Autor: Younesi S; Nilou Laboratory, Tehran, Iran., Yazdani B; Nilou Laboratory, Tehran, Iran., Taheri Amin MM; Nilou Laboratory, Tehran, Iran., Saadati P; Nilou Laboratory, Tehran, Iran., Jamali S; Nilou Laboratory, Tehran, Iran., Modarresi MH; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Savad S; Nilou Laboratory, Tehran, Iran., Amidi S; Nilou Laboratory, Tehran, Iran., Razavi H; Nilou Laboratory, Tehran, Iran., Ghafouri-Fard S; Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 Jul; Vol. 36 (7), pp. e24471. Date of Electronic Publication: 2022 May 02.
DOI: 10.1002/jcla.24471
Abstrakt: 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.)
Databáze: MEDLINE
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