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Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
Blood collection for newborn genetic disease screening is preferably performed within 24–48 h after birth. We used population-level newborn screening (NBS) data to study early postnatal metabolic changes and whether timing of blood collection could impact screening performance. Newborns were grouped...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854909/ https://www.ncbi.nlm.nih.gov/pubmed/33553077 http://dx.doi.org/10.3389/fped.2020.623184 |
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author | Peng, Gang Tang, Yishuo Cowan, Tina M. Zhao, Hongyu Scharfe, Curt |
author_facet | Peng, Gang Tang, Yishuo Cowan, Tina M. Zhao, Hongyu Scharfe, Curt |
author_sort | Peng, Gang |
collection | PubMed |
description | Blood collection for newborn genetic disease screening is preferably performed within 24–48 h after birth. We used population-level newborn screening (NBS) data to study early postnatal metabolic changes and whether timing of blood collection could impact screening performance. Newborns were grouped based on their reported age at blood collection (AaBC) into early (12–23 h), standard (24–48 h), and late (49–168 h) collection groups. Metabolic marker levels were compared between the groups using effect size analysis, which controlled for group size differences and influence from the clinical variables of birth weight and gestational age. Metabolite level differences identified between groups were correlated to NBS data from false-positive cases for inborn metabolic disorders including carnitine transport defect (CTD), isovaleric acidemia (IVA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). Our results showed that 56% of the metabolites had AaBC-related differences, which included metabolites with either decreasing or increasing levels after birth. Compared to the standard group, the early-collection group had elevated marker levels for PKU (phenylalanine, Cohen's d = 0.55), IVA (C5, Cohen's d = 0.24), MMA (C3, Cohen's d = 0.23), and CTD (C0, Cohen's d = 0.23). These findings correlated with higher false-positive rates for PKU (P < 0.05), IVA (P < 0.05), and MMA (P < 0.001), and lower false-positive rate for CTD (P < 0.001) in the early-collection group. Blood collection before 24 h could affect screening performance for some metabolic disorders. We have developed web-based tools integrating AaBC and other variables for interpretive analysis of screening data. |
format | Online Article Text |
id | pubmed-7854909 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-78549092021-02-04 Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance Peng, Gang Tang, Yishuo Cowan, Tina M. Zhao, Hongyu Scharfe, Curt Front Pediatr Pediatrics Blood collection for newborn genetic disease screening is preferably performed within 24–48 h after birth. We used population-level newborn screening (NBS) data to study early postnatal metabolic changes and whether timing of blood collection could impact screening performance. Newborns were grouped based on their reported age at blood collection (AaBC) into early (12–23 h), standard (24–48 h), and late (49–168 h) collection groups. Metabolic marker levels were compared between the groups using effect size analysis, which controlled for group size differences and influence from the clinical variables of birth weight and gestational age. Metabolite level differences identified between groups were correlated to NBS data from false-positive cases for inborn metabolic disorders including carnitine transport defect (CTD), isovaleric acidemia (IVA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). Our results showed that 56% of the metabolites had AaBC-related differences, which included metabolites with either decreasing or increasing levels after birth. Compared to the standard group, the early-collection group had elevated marker levels for PKU (phenylalanine, Cohen's d = 0.55), IVA (C5, Cohen's d = 0.24), MMA (C3, Cohen's d = 0.23), and CTD (C0, Cohen's d = 0.23). These findings correlated with higher false-positive rates for PKU (P < 0.05), IVA (P < 0.05), and MMA (P < 0.001), and lower false-positive rate for CTD (P < 0.001) in the early-collection group. Blood collection before 24 h could affect screening performance for some metabolic disorders. We have developed web-based tools integrating AaBC and other variables for interpretive analysis of screening data. Frontiers Media S.A. 2021-01-20 /pmc/articles/PMC7854909/ /pubmed/33553077 http://dx.doi.org/10.3389/fped.2020.623184 Text en Copyright © 2021 Peng, Tang, Cowan, Zhao and Scharfe. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Peng, Gang Tang, Yishuo Cowan, Tina M. Zhao, Hongyu Scharfe, Curt Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title | Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title_full | Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title_fullStr | Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title_full_unstemmed | Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title_short | Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance |
title_sort | timing of newborn blood collection alters metabolic disease screening performance |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854909/ https://www.ncbi.nlm.nih.gov/pubmed/33553077 http://dx.doi.org/10.3389/fped.2020.623184 |
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