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. 2024 May 9;11(5):571.
doi: 10.3390/children11050571.

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

Banu Kadıoğlu Yılmaz  1   2 , Zafer Bağcı  3
Affiliations

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

Banu Kadıoğlu Yılmaz et al. Children (Basel). .

Abstract

This study aims to evaluate the process of neonatal phenylketonuria (PKU) screening from birth to admission to the pediatric metabolism polyclinic, determining delays in the screening program and the factors influencing them. This study was conducted during 2021-2023. Blood collection dates, results, and probable parameters causing delays in the screening program were recorded. This study included 118 infants. Admission time to the polyclinic was (mean ± SD) 25.2 ± 12.6 days (min-max: 3.4-78.9 days). Admission time was significantly high for refugees, those whose parents were consanguineous, and those who had more heel-prick blood samples taken (p < 0.001, p = 0.005, and p < 0.001, respectively). The first heel-prick blood phenylalanine (phe) level was significantly negatively correlated with the admission time (p < 0.001). Patients' admission time whose first blood phe level < 240 μmol/L was statistically significantly higher than in those with ≥240 μmol/L (p < 0.001). We determined that there were delays in PKU screening from birth to admission to the polyclinic. Being a refugee, the presence of consanguineous marriages, the increase in the number of heel-prick tests, and blood phe levels at a range of 120-240 μmol/L were the factors that played a role in this delay. Taking steps to reduce the impact of these parameters can prevent delays in newborn PKU screening and increase the success of the screening program.

Keywords: admission time; delay; newborn screening; phenylalanine; phenylketonuria.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Flow chart of the evaluated parameters of the cases included in this study. *; 2nd, 3rd, and 4th DBS tests are taken according to the algorithm determined by the General Directorate of Public Health of Türkiye, as noted in references [8,23]. PKU, phenylketonuria; HPA, hyperphenylalaninemia; Phe; phenylalanine; Tyr, tyrosine; DBS, dried blood spot; DHPR, dihydropteridine reductase; NGS, Next-generation sequencing; BH4, tetrahydrobiopterin; MLPA, Multiplex Ligation Dependent Probe Amplification.
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References

    1. Fabie N.A.V., Pappas K.B., Feldman G.L. The Current State of Newborn Screening in the United States. Pediatr. Clin. N. Am. 2019;66:369–386. doi: 10.1016/j.pcl.2018.12.007. - DOI - PubMed
    1. El-Hattab A.W., Almannai M., Sutton V.R. Newborn Screening: History, Current Status, and Future Directions. Pediatr. Clin. N. Am. 2018;65:389–405. doi: 10.1016/j.pcl.2017.11.013. - DOI - PubMed
    1. Rajabi F. Updates in Newborn Screening. Pediatr. Ann. 2018;47:e187–e190. doi: 10.3928/19382359-20180426-01. - DOI - PubMed
    1. Watson M.S., Mann M.Y., Lloyd-Puryear M.A., Rinaldo P. Newborn screening: Toward a uniform screening panel and system. Genet. Med. 2006;8((Suppl. S1)):1S–11S. - PMC - PubMed
    1. Recommended Uniform Screening Panel Health Resources & Services Administration. [(accessed on 26 April 2018)]; Available online: http://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html.

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This research received no external funding.

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