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An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study

Background Unless a cutoff level of the parameters of newborn screening (NBS) is defined, a screening test's results would end in high recall rates and apprehensive parents. The study aimed to establish a cutoff level of the healthy term newborns. Materials and methods The study was a retrospec...

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Autores principales: Patel, Suprava, Verma, Neharani, Padhi, Phalguni, Shah, Seema, Nanda, Rachita, Mohapatra, Eli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570011/
https://www.ncbi.nlm.nih.gov/pubmed/37842412
http://dx.doi.org/10.7759/cureus.45139
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author Patel, Suprava
Verma, Neharani
Padhi, Phalguni
Shah, Seema
Nanda, Rachita
Mohapatra, Eli
author_facet Patel, Suprava
Verma, Neharani
Padhi, Phalguni
Shah, Seema
Nanda, Rachita
Mohapatra, Eli
author_sort Patel, Suprava
collection PubMed
description Background Unless a cutoff level of the parameters of newborn screening (NBS) is defined, a screening test's results would end in high recall rates and apprehensive parents. The study aimed to establish a cutoff level of the healthy term newborns. Materials and methods The study was a retrospective observational data analysis on a cohort of 1158 term newborns who underwent NBS in our institute. The percentile distribution of the NBS parameters was computed and the 99th percentile value was considered the new cutoff. For lower values, such as neonatal glucose 6-phosphate dehydrogenase (nG6PD) and neonatal biotinidase (nBIOT), low percentile values were regarded as new cutoff value. Results Neonatal thyroid stimulating hormone (nTSH), nG6PD, neonatal immunoreactive trypsinogen (nIRT), and nBIOT showed a wide variation in the distribution. Most newborns had neonatal galactose (nGAL), nIRT, and nBIOT values above the median. The 99th percentile value of nTSH was 14.5 mIU/L, and that of neonatal 17-hydroxyprogesterone (n17-OHP) was 43.7 nmol/L. The 1.0th percentile value for nG6PD was decreased to 2.18 IU/gHb. The new cutoff values for nBIOT, nIRT, neonatal phenylketonuria (nPKU) and nGAL were 48.59 U, 95.3 µg/L, 2.3 mg/dL and 15.9 mg/dL. The mean and median nTSH values did not significantly differ (p=0.99) in the first five days of birth. On the contrary, the study population depicted considerably raised levels of n17-OHP on day 3, followed by a sharp decrease (p=0.029). Similarly, nIRT displayed significant differences in the first five days (p=0.017). Conclusion Using the 99th percentile values of the NBS parameters as the new cutoff levels might be beneficial in terms of the recall rates and cost burden.
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spelling pubmed-105700112023-10-14 An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study Patel, Suprava Verma, Neharani Padhi, Phalguni Shah, Seema Nanda, Rachita Mohapatra, Eli Cureus Pediatrics Background Unless a cutoff level of the parameters of newborn screening (NBS) is defined, a screening test's results would end in high recall rates and apprehensive parents. The study aimed to establish a cutoff level of the healthy term newborns. Materials and methods The study was a retrospective observational data analysis on a cohort of 1158 term newborns who underwent NBS in our institute. The percentile distribution of the NBS parameters was computed and the 99th percentile value was considered the new cutoff. For lower values, such as neonatal glucose 6-phosphate dehydrogenase (nG6PD) and neonatal biotinidase (nBIOT), low percentile values were regarded as new cutoff value. Results Neonatal thyroid stimulating hormone (nTSH), nG6PD, neonatal immunoreactive trypsinogen (nIRT), and nBIOT showed a wide variation in the distribution. Most newborns had neonatal galactose (nGAL), nIRT, and nBIOT values above the median. The 99th percentile value of nTSH was 14.5 mIU/L, and that of neonatal 17-hydroxyprogesterone (n17-OHP) was 43.7 nmol/L. The 1.0th percentile value for nG6PD was decreased to 2.18 IU/gHb. The new cutoff values for nBIOT, nIRT, neonatal phenylketonuria (nPKU) and nGAL were 48.59 U, 95.3 µg/L, 2.3 mg/dL and 15.9 mg/dL. The mean and median nTSH values did not significantly differ (p=0.99) in the first five days of birth. On the contrary, the study population depicted considerably raised levels of n17-OHP on day 3, followed by a sharp decrease (p=0.029). Similarly, nIRT displayed significant differences in the first five days (p=0.017). Conclusion Using the 99th percentile values of the NBS parameters as the new cutoff levels might be beneficial in terms of the recall rates and cost burden. Cureus 2023-09-12 /pmc/articles/PMC10570011/ /pubmed/37842412 http://dx.doi.org/10.7759/cureus.45139 Text en Copyright © 2023, Patel et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Patel, Suprava
Verma, Neharani
Padhi, Phalguni
Shah, Seema
Nanda, Rachita
Mohapatra, Eli
An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title_full An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title_fullStr An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title_full_unstemmed An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title_short An Approach to Re-evaluate the Reference Cutoff of the Parameters of Newborn Screening: An Observational Study
title_sort approach to re-evaluate the reference cutoff of the parameters of newborn screening: an observational study
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10570011/
https://www.ncbi.nlm.nih.gov/pubmed/37842412
http://dx.doi.org/10.7759/cureus.45139
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