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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-08-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/3/67 |
| _version_ | 1827708028742270976 |
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| author | Patrice K. Held Ian M. Bird Natasha L. Heather |
| author_facet | Patrice K. Held Ian M. Bird Natasha L. Heather |
| author_sort | Patrice K. Held |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T16:58:00Z |
| format | Article |
| id | doaj.art-60ae7a569519481fa1cb0d16a891a849 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T16:58:00Z |
| publishDate | 2020-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-60ae7a569519481fa1cb0d16a891a8492023-11-20T11:04:49ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-08-01636710.3390/ijns6030067Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening AccuracyPatrice K. Held0Ian M. Bird1Natasha L. Heather2Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USADepartment of Obstetrics and Gynecology, University of Wisconsin School of Medicine and Public Health, Madison, WI 53715, USANewborn Screening, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandNewborn 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.https://www.mdpi.com/2409-515X/6/3/67congenital adrenal hyperplasianewborn screening |
| spellingShingle | Patrice K. Held Ian M. Bird Natasha L. Heather Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy International Journal of Neonatal Screening congenital adrenal hyperplasia newborn screening |
| 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 | congenital adrenal hyperplasia newborn screening |
| url | https://www.mdpi.com/2409-515X/6/3/67 |
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