Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia
Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during th...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-09-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/5/3/33 |
| _version_ | 1818975930403520512 |
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| author | Eric R. Bialk Michael R. Lasarev Patrice K. Held |
| author_facet | Eric R. Bialk Michael R. Lasarev Patrice K. Held |
| author_sort | Eric R. Bialk |
| collection | DOAJ |
| description | Newborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during the first few days of life. To improve screening for CAH, Wisconsin developed a second-tier assay to quantify four different steroids (17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, and cortisol) by liquid chromatography−tandem mass spectrometry (LC−MSMS) in dried blood spots. From validation studies which included the testing of confirmed CAH patients, Wisconsin established its own reporting algorithm that incorporates steroid concentrations as well as two different ratios—the birth weight and the collection time—to identify babies at risk for CAH. Using the newly developed method and algorithm, the false positive rate for the CAH screening was reduced by 95%. Patients with both classical forms of CAH, salt-wasting and simple virilizing, were identified. This study replicates and expands upon previous work to develop a second-tier LC−MSMS steroid profiling screening assay for CAH. The validation and prospective study results provide evidence for an extensive reporting algorithm that incorporates multiple steroids, birth weight, and collection times. |
| first_indexed | 2024-12-20T16:03:46Z |
| format | Article |
| id | doaj.art-e48279ea031849b48326d01f08aff80a |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-12-20T16:03:46Z |
| publishDate | 2019-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-e48279ea031849b48326d01f08aff80a2022-12-21T19:34:12ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2019-09-01533310.3390/ijns5030033ijns5030033Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal HyperplasiaEric R. Bialk0Michael R. Lasarev1Patrice K. Held2Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USADepartment of Biostatistics and Medical Informatics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USAWisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USANewborn screening for congenital adrenal hyperplasia (CAH) has one of the highest false positive rates of any of the diseases on the Wisconsin panel. This is largely due to the first-tier immune assay cross-reactivity and physiological changes in the concentration of 17-hydroxyprogesterone during the first few days of life. To improve screening for CAH, Wisconsin developed a second-tier assay to quantify four different steroids (17-hydroxyprogesterone, 21-deoxycortisol, androstenedione, and cortisol) by liquid chromatography−tandem mass spectrometry (LC−MSMS) in dried blood spots. From validation studies which included the testing of confirmed CAH patients, Wisconsin established its own reporting algorithm that incorporates steroid concentrations as well as two different ratios—the birth weight and the collection time—to identify babies at risk for CAH. Using the newly developed method and algorithm, the false positive rate for the CAH screening was reduced by 95%. Patients with both classical forms of CAH, salt-wasting and simple virilizing, were identified. This study replicates and expands upon previous work to develop a second-tier LC−MSMS steroid profiling screening assay for CAH. The validation and prospective study results provide evidence for an extensive reporting algorithm that incorporates multiple steroids, birth weight, and collection times.https://www.mdpi.com/2409-515X/5/3/33newborn screeningcongenital adrenal hyperplasiasecond-tier testingliquid chromatography–tandem mass spectrometry |
| spellingShingle | Eric R. Bialk Michael R. Lasarev Patrice K. Held Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia International Journal of Neonatal Screening newborn screening congenital adrenal hyperplasia second-tier testing liquid chromatography–tandem mass spectrometry |
| title | Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia |
| title_full | Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia |
| title_fullStr | Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia |
| title_full_unstemmed | Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia |
| title_short | Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia |
| title_sort | wisconsin s screening algorithm for the identification of newborns with congenital adrenal hyperplasia |
| topic | newborn screening congenital adrenal hyperplasia second-tier testing liquid chromatography–tandem mass spectrometry |
| url | https://www.mdpi.com/2409-515X/5/3/33 |
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