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Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy
Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preve...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569755/ https://www.ncbi.nlm.nih.gov/pubmed/33117906 http://dx.doi.org/10.3390/ijns6030067 |
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author | Held, Patrice K. Bird, Ian M. Heather, Natasha L. |
author_facet | Held, Patrice K. Bird, Ian M. Heather, Natasha L. |
author_sort | Held, Patrice K. |
collection | PubMed |
description | Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists. |
format | Online Article Text |
id | pubmed-7569755 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75697552020-10-27 Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy Held, Patrice K. Bird, Ian M. Heather, Natasha L. Int J Neonatal Screen Review Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists. MDPI 2020-08-23 /pmc/articles/PMC7569755/ /pubmed/33117906 http://dx.doi.org/10.3390/ijns6030067 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Held, Patrice K. Bird, Ian M. Heather, Natasha L. Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title_full | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title_fullStr | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title_full_unstemmed | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title_short | Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy |
title_sort | newborn screening for congenital adrenal hyperplasia: review of factors affecting screening accuracy |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569755/ https://www.ncbi.nlm.nih.gov/pubmed/33117906 http://dx.doi.org/10.3390/ijns6030067 |
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