ArticleInternational journal of neonatal screening2020
Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Article in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Newborn screening for congenital adrenal hyperplasia: a 3 years study embedded in 25 years of regional experience in Italy.Endocrine · 2026Article
- Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.The Journal of clinical endocrinology and metabolism · 2026Article
- Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing.International journal of neonatal screening · 2026Article
- 21-Deoxycortisone: A Novel Sensitive and Specific Newborn Screening Marker for Congenital Adrenal Hyperplasia.International journal of neonatal screening · 2026Article
- Living with congenital adrenal hyperplasia: insights on quality of life.Frontiers in endocrinology · 2026Article
- Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.International journal of neonatal screening · 2025Article
- Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.Journal of endocrinological investigation · 2025Article
- Universal newborn screening using genome sequencing: early experience from the GUARDIAN study.Pediatric research · 2025Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen.Hormone research in paediatrics · 2024Article
- Dermatologic care of patients with differences of sex development.International journal of women's dermatology · 2023Review
- Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy.International journal of neonatal screening · 2022Article
- Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.Hormones (Athens, Greece) · 2022Article
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.Medicina (Kaunas, Lithuania) · 2021Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- [Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].Medecine sciences : M/S · 2021Article
- Newborn Screening for CAH-Challenges and Opportunities.International journal of neonatal screening · 2021Article
- Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.International journal of neonatal screening · 2020Review
- Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.International journal of neonatal screening · 2020Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
Abstract
Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results. The purpose of this report is to highlight differences in protocols among US state laboratories. We circulated a survey to state laboratory directors requesting qualitative and quantitative information about individual screening programs. Qualitative and quantitative information provided by 17 state programs were available for analysis. Disease prevalence ranged from 1:9941 to 1:28,661 live births. Four state laboratories mandated a second screen regardless of the initial screening results; most others did so for infants in intensive care units. All but one program utilized birthweight cut-points, but cutoffs varied widely: 17OHP values of 25 to 75 ng/mL for birthweights >2250-2500 g. The positive predictive values for normal birthweight infants varied from 0.7% to 50%, with the highest predictive values based in two of the states with a mandatory second screen. Data were unavailable for negative predictive values. These data imply differences in sensitivity and specificity in CAH screening in the US. Standardization of newborn screening protocols could improve the positive predictive value.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.