Publication

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

van der Linde, A. A. A., Schonbeck, 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., Jul-2019, In : Archives of Disease in Childhood. 104, 7, p. 653-657 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

van der Linde, A. A. A., Schonbeck, Y., van der Kamp, H. J., van den Akker, E. L. T., van Albada, M. E., Boelen, A., ... Verkerk, P. H. (2019). Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. Archives of Disease in Childhood, 104(7), 653-657. https://doi.org/10.1136/archdischild-2018-315972

Author

van der Linde, Annelieke A. A. ; Schonbeck, Yvonne ; van der Kamp, Hetty J. ; van den Akker, Erica L. T. ; van Albada, Mirjam E. ; Boelen, Anita ; Finken, Martijn J. J. ; Hannema, Sabine E. ; Hoorweg-Nijman, Gera ; Odink, Roelof J. ; Schielen, Peter C. J. I. ; Straetemans, Saartje ; van Trotsenburg, Paul S. ; Claahsen-van der Grinten, Hedi L. ; Verkerk, Paul H. / Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. In: Archives of Disease in Childhood. 2019 ; Vol. 104, No. 7. pp. 653-657.

Harvard

van der Linde, AAA, Schonbeck, Y, van der Kamp, HJ, van den Akker, ELT, van Albada, ME, Boelen, A, Finken, MJJ, Hannema, SE, Hoorweg-Nijman, G, Odink, RJ, Schielen, PCJI, Straetemans, S, van Trotsenburg, PS, Claahsen-van der Grinten, HL & Verkerk, PH 2019, 'Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia', Archives of Disease in Childhood, vol. 104, no. 7, pp. 653-657. https://doi.org/10.1136/archdischild-2018-315972

Standard

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. / van der Linde, Annelieke A. A.; Schonbeck, Yvonne; van der Kamp, Hetty J.; van den Akker, Erica L. T.; van Albada, Mirjam E.; Boelen, Anita; Finken, Martijn J. J.; Hannema, Sabine E.; Hoorweg-Nijman, Gera; Odink, Roelof J.; Schielen, Peter C. J. I.; Straetemans, Saartje; van Trotsenburg, Paul S.; Claahsen-van der Grinten, Hedi L.; Verkerk, Paul H.

In: Archives of Disease in Childhood, Vol. 104, No. 7, 07.2019, p. 653-657.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

van der Linde AAA, Schonbeck Y, van der Kamp HJ, van den Akker ELT, van Albada ME, Boelen A et al. Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia. Archives of Disease in Childhood. 2019 Jul;104(7):653-657. https://doi.org/10.1136/archdischild-2018-315972


BibTeX

@article{100927e550e34f0c949e5f0dd9348032,
title = "Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia",
abstract = "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.",
keywords = "21-HYDROXYLASE DEFICIENCY, STEROID PROFILE, 17-HYDROXYPROGESTERONE, 17-ALPHA-HYDROXYPROGESTERONE, LESSONS, AGE",
author = "{van der Linde}, {Annelieke A. A.} and Yvonne Schonbeck and {van der Kamp}, {Hetty J.} and {van den Akker}, {Erica L. T.} and {van Albada}, {Mirjam E.} and Anita Boelen and Finken, {Martijn J. J.} and Hannema, {Sabine E.} and Gera Hoorweg-Nijman and Odink, {Roelof J.} and Schielen, {Peter C. J. I.} and Saartje Straetemans and {van Trotsenburg}, {Paul S.} and {Claahsen-van der Grinten}, {Hedi L.} and Verkerk, {Paul H.}",
year = "2019",
month = "7",
doi = "10.1136/archdischild-2018-315972",
language = "English",
volume = "104",
pages = "653--657",
journal = "Archives of Disease in Childhood",
issn = "0003-9888",
publisher = "BMJ PUBLISHING GROUP",
number = "7",

}

RIS

TY - JOUR

T1 - Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

AU - van der Linde, Annelieke A. A.

AU - Schonbeck, Yvonne

AU - van der Kamp, Hetty J.

AU - van den Akker, Erica L. T.

AU - van Albada, Mirjam E.

AU - Boelen, Anita

AU - Finken, Martijn J. J.

AU - Hannema, Sabine E.

AU - Hoorweg-Nijman, Gera

AU - Odink, Roelof J.

AU - Schielen, Peter C. J. I.

AU - Straetemans, Saartje

AU - van Trotsenburg, Paul S.

AU - Claahsen-van der Grinten, Hedi L.

AU - Verkerk, Paul H.

PY - 2019/7

Y1 - 2019/7

N2 - 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.

AB - 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.

KW - 21-HYDROXYLASE DEFICIENCY

KW - STEROID PROFILE

KW - 17-HYDROXYPROGESTERONE

KW - 17-ALPHA-HYDROXYPROGESTERONE

KW - LESSONS

KW - AGE

U2 - 10.1136/archdischild-2018-315972

DO - 10.1136/archdischild-2018-315972

M3 - Article

VL - 104

SP - 653

EP - 657

JO - Archives of Disease in Childhood

JF - Archives of Disease in Childhood

SN - 0003-9888

IS - 7

ER -

ID: 93759731