Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
Open accessAbstract
BACKGROUND: In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known. METHODS: Retrospective, descriptive study. The following data of patients with positive screening results since implementation of the screening programme were collected (1 January 2002 up until 31 December 2013): gestational age, sex, diagnosis, clinical presentation and contribution of screening to the diagnosis. RESULTS: In the evaluated period, 2 235 931 newborns were screened. 479 children had an abnormal screening result, 133 children were diagnosed with CAH (114 SW, 14 simple virilizing (SV)), five non-classic CAH. During this period, no patients with SW CAH were missed by neonatal screening (sensitivity was 100%). After exclusion of 17 cases with missing information on diagnosis, specificity was 99.98% and positive predictive value was 24.7%. Most false positives (30%) were attributable to prematurity. Of patients with SW CAH, 68% (71/104) patients were detected by neonatal screening and 33 (33/104) were clinically diagnosed. Of girls with SW CAH, 38% (14/37) were detected by neonatal screening and 62% (23/37) were clinically diagnosed. CONCLUSION: The Dutch neonatal screening has an excellent sensitivity and high specificity. Both boys and girls can benefit from neonatal screening.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Studies have reported inconsistent effects of antenatal corticosteroid administration in practice.
“Studies have reported inconsistent effects of antenatal corticosteroid administration in practice (258,259).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [259]
The Discussion addresses neonatal screening results and ways to reduce false positives, but does not discuss the effects of antenatal corticosteroid administration. Searches for antenatal corticosteroids and maternal steroid exposure found no passage in our copy reporting inconsistent effects. (LLM, conf=0.73)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432 · see citing works
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
White, P. C. (2000) · Endocrine Reviews · doi:10.1210/er.21.3.245 · Cited by 877 · see citing works
New, M. I., Abraham, M., Gonzalez, B., Dumic, M., Razzaghy-Azar, M., Chitayat, D., Sun, L., Zaidi, M., Wilson, R. C., & Yuen, T. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300057110 · Cited by 365 · see citing works
Therrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344 · see citing works
Genetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works
Neonatal screening for congenital adrenal hyperplasia
White, P. C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.148 · Cited by 240 · see citing works
Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., & Sander, J. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2890 · Cited by 211 · see citing works
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0640 · Cited by 163 · see citing works
Thilén, A., Nordenström, A., Hagenfeldt, L., von Döbeln, U., Guthenberg, C., & Larsson, A. (1998) · PEDIATRICS · doi:10.1542/peds.101.4.e11 · Cited by 151 · see citing works
Neonatal screening for congenital adrenal hyperplasia
van der Kamp, H., & Wit, J. (2004) · European Journal of Endocrinology · doi:10.1530/eje.0.151u071 · Cited by 128 · see citing works
Self-citationGidlöf, S., Wedell, A., Guthenberg, C., von Döbeln, U., & Nordenström, A. (2014) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2013.5321 · Cited by 119 · see citing works
van der Kamp, H. J., Oudshoorn, C. G. M., Elvers, B. H., van Baarle, M., Otten, B. J., Wit, J. M., & Verkerk, P. H. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2136 · Cited by 114 · see citing works
Self-citationHow Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia?
Grosse, S. D., & Van Vliet, G. (2007) · Hormone Research in Paediatrics · doi:10.1159/000098400 · Cited by 102 · see citing works
Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
Van der Kamp, H. J., Noordam, K., Elvers, B., Van Baarle, M., Otten, B. J., & Verkerk, P. H. (2001) · PEDIATRICS · doi:10.1542/peds.108.6.1320 · Cited by 86 · see citing works
Self-citationCoulm, B. (2012) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpediatrics.2011.774 · Cited by 73 · see citing works
Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013
Heather, N. L., Seneviratne, S. N., Webster, D., Derraik, J. G. B., Jefferies, C., Carll, J., Jiang, Y., Cutfield, W. S., & Hofman, P. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3168 · Cited by 65 · see citing works
Hayashi, G. Y., Carvalho, D. F., de Miranda, M. C., Faure, C., Vallejos, C., Brito, V. N., Rodrigues, A. D. S., Madureira, G., Mendonca, B. B., & Bachega, T. A. S. S. (2017) · Clinical Endocrinology · doi:10.1111/cen.13292 · Cited by 52 · see citing works
Kovacs, J. (2001) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.7.2958 · Cited by 52 · see citing works
Screening for neonatal endocrinopathies: rationale, methods and results
Vliet, G. V., & Czernichow, P. (2003) · Seminars in Neonatology · doi:10.1016/s1084-2756(03)00115-5 · Cited by 50 · see citing works
Determination of a steroid profile in heel prick blood using LC-MS/MS
Boelen, A., Ruiter, A. F., Claahsen-van der Grinten, H. L., Endert, E., & Ackermans, M. T. (2016) · Bioanalysis · doi:10.4155/bio.16.6 · Cited by 49 · see citing works
Self-citationTsuji‐Hosokawa, A., Konishi, K., Hasegawa, S., Anazawa, A., Onishi, T., Ono, M., Morio, T., Kitagawa, T., & Kashimada, K. (2015) · BMC Pediatrics · doi:10.1186/s12887-015-0529-y · Cited by 48 · see citing works
Congenital adrenal hyperplasia and the second newborn screen
Chan, C. L., McFann, K., Taylor, L., Wright, D., Zeitler, P. S., & Barker, J. M. (2013) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2013.01.002 · Cited by 46 · see citing works
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states
Held, P. K., Shapira, S. K., Hinton, C. F., Jones, E., Hannon, W. H., & Ojodu, J. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.08.004 · Cited by 44 · see citing works
Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants
Sarafoglou, K., Gaviglio, A., Hietala, A., Frogner, G., Banks, K., McCann, M., & Thomas, W. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.01.038 · Cited by 38 · see citing works
Cytochrome P450 Oxidoreductase Deficiency
Idkowiak, J., Cragun, D. L., Hopkin, R. J., & Arlt, W. (2009) · University of Washington, Seattle eBooks · Cited by 33 · see citing works
Reduced Activity of 11β-Hydroxylase Accounts for Elevated 17α-Hydroxyprogesterone in Preterms
Kamrath, C., Hartmann, M. F., Boettcher, C., & Wudy, S. A. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.04.011 · Cited by 31 · see citing works
Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels
Anandi, V. S., & Shaila, B. (2017) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2016-0459 · Cited by 31 · see citing works
Knowles, R. L., Khalid, J. M., Oerton, J., Hindmarsh, P. C., Kelnar, C. J. H., & Dezateux, C. A. (2013) · Archives of Disease in Childhood · doi:10.1136/archdischild-2012-303070 · Cited by 29 · see citing works
A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS
Peter, M., Janzen, N., Sander, S., Korsch, E., Riepe, F. G., & Sander, J. (2008) · Hormone Research in Paediatrics · doi:10.1159/000113027 · Cited by 25 · see citing works
Hird, B. E., Tetlow, L., Tobi, S., Patel, L., & Clayton, P. E. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304473 · Cited by 25 · see citing works
Monostori, P. B., Szabó, P. T., Mărginean, O., Bereczki, C., & Karg, E. (2015) · Hormone Research in Paediatrics · doi:10.1159/000439380 · Cited by 25 · see citing works
A three-year follow-up of congenital adrenal hyperplasia newborn screening
Pezzuti, I. L., Barra, C. B., Mantovani, R. M., Januário, J. N., & Silva, I. N. (2014) · Jornal de Pediatria · doi:10.1016/j.jped.2013.09.007 · Cited by 24 · see citing works
Lee, J. E., Moon, Y., Lee, M. H., Jun, Y. H., Oh, K. I., & Choi, J. W. (2008) · PubMed · Cited by 21 · see citing works
Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience
Reyes, E. C. G., Carvajal, F., Frómeta, A., Arteaga, A. L., Martínez, E. M. C., Espinosa, T., Coto, R., Pérez, P. L., Tejeda, Y., del Río, L., et al. (2013) · Clinica Chimica Acta · doi:10.1016/j.cca.2013.02.020 · Cited by 20 · see citing works
Neonatal screening for congenital adrenal hyperplasia in Japan.
Tajima, T., Fujikura, K., Fukushi, M., et al. (2012) · PubMed · Cited by 19 · see citing works
Votava, F., Novotná, D., Kračmar, P., Vinohradská, H., Stahlova-Hrabincova, E., Vrzalová, Z., Neumann, D., Malíková, J., Lebl, J., & Matern, D. (2012) · European Journal of Pediatrics · doi:10.1007/s00431-011-1656-6 · Cited by 16 · see citing works
3?-hydroxysteroid dehydrogenase type II deficiency on newborn screening test
de Araújo, V. G. B., Oliveira, R., Gameleira, K. P. D., Cruz, C. B., & Lofrano‐Porto, A. (2014) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/0004-2730000003098 · Cited by 14 · see citing works
Pauwels, G., Allegaert, K., Régal, L., & Meulemans, A. (2012) · PubMed · doi:10.2143/acb.67.2.2062637 · Cited by 6 · see citing works
Flagged first, then by citations
Research works printed but not linked: 1
- Speiser PW, White PC. Congenital Adrenal Hyperplasia. N Engl J Med Overseas Ed 2003;349:776-88. · DOI · Paper page
Cited by
Sorted by citations
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
Self-citationSpeiser, P., Chawla, R., Chen, M., Diaz-Thomas, A., Finlayson, C., Rutter, M., Sandberg, D., Shimy, K., Talib, R., Cerise, J., et al. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6020037 · Cited by 36 · see citing works
Lai, F., Srinivasan, S., & Wiley, V. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6030063 · Cited by 32 · see citing works
- Authors
- van der Linde, A. A. A., Schönbeck, Y., van der Kamp, H. J., van den Akker, E. L. T., van Albada, M. E., Boelen, A., Finken, M. J. J., Hannema, S. E., Hoorweg-Nijman, G., Odink, R. J., Schielen, P. C. J. I., Straetemans, S., van Trotsenburg, P. S., Claahsen-van der Grinten, H. L., & Verkerk, P. H.
- Affiliations
- Netherlands Organisation for Applied Scientific Research (NL)
- Amsterdam University Medical Centers (NL)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Leiden University Medical Center (NL)
- St. Antonius Ziekenhuis (NL)
- Catharina Ziekenhuis (NL)
- National Institute for Public Health and the Environment (NL)
- Maastricht University Medical Centre (NL)
- ORCID
- Venue
- Archives of Disease in Childhood
- Publisher
- BMJ
- Published
- 2019-02-02
- Volume
- 104
- Issue
- 7
- Pages
- 653-657
- ISSN
- 0003-9888 (ISSN-L)
- 1468-2044
- OpenAlex
- W2914129259
- Cited by
- 32
- References
- 39
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 4 · 2023: 4 · 2021: 9 · 2020: 7
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- Archives of Disease in Childhood (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- TNO Repository (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Pure Amsterdam UMC (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Rivm Repository (Netherlands National Institute for Public Health and the Environment) (submittedVersion)
- Repository hosted by TU Delft Library (TU Delft) (submittedVersion)
- Rivm (National Institute for Public Health and the Environment) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- 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, salt-wasting CAH, screening sensitivity and specificity, false positives, preterm birth, sex differences in diagnosis
- MeSH terms
- Adrenal Hyperplasia, Congenital, Female, Humans, Infant, Newborn, Male, Netherlands, Retrospective Studies, Sensitivity and Specificity, Incidence, Neonatal Screening
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
