The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling
Abstract
Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference. Results Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV. Conclusions GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.
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Most laboratories use a series of birth weight-adjusted cut-offs, but actual gestational age, or both, might be preferable, because gestational age correlates much better with 17OHP levels.
“Most laboratories use a series of birth weight-adjusted cut-offs (253,254) but actual gestational age, or both, might be preferable, because gestational age correlates much better with 17OHP levels (27,255).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [253]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
- Authors
- Jiang, X., Tang, F., Feng, Y., Li, B., Jia, X., Tang, C., Liu, S., & Huang, Y.
- Affiliations
- Guangzhou Women and Children Medical Center (CN)
- Corresponding author
- Huang, Yonglan
- Venue
- Journal of Pediatric Endocrinology and Metabolism
- Publisher
- Walter de Gruyter GmbH
- Published
- 2019-10-11
- Volume
- 32
- Issue
- 11
- Pages
- 1253-1258
- ISSN
- 0334-018X (ISSN-L)
- 2191-0251
- OpenAlex
- W2979929761
- Cited by
- 21
- References
- 20
- Citations by year
- 2026: 1 · 2025: 5 · 2024: 4 · 2023: 4 · 2022: 2 · 2021: 3 · 2020: 2
- FWCI
- 0.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Endocrinology and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, newborn screening, 17-hydroxyprogesterone, cut-off values, gestational age, birth weight, dried blood spots, positive predictive value, false positive rate
- MeSH terms
- Adrenal Hyperplasia, Congenital, Age Factors, Aged, False Positive Reactions, Female, Follow-Up Studies, Genetic Testing, Gestational Age, Humans, Infant, Newborn, Predictive Value of Tests, Biomarkers, Neonatal Screening, 17-alpha-Hydroxyprogesterone
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