Year: 2019
Type: article
Study design: Observational Study
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.
Source: Archives of Disease in Childhood
Authors: Annelieke A A van der Linde, Yvonne Schönbeck, Hetty J van der Kamp, Erica L T van den Akker, Mirjam E van Albada, Anita Boelen, Martijn J J Finken, Sabine E Hannema, Gera Hoorweg-Nijman, Roelof J Odink, Peter C J I Schielen, Saartje Straetemans, Paul S van Trotsenburg, Hedi L Claahsen-van der Grinten, Paul H Verkerk
Institutions: Radboud University Nijmegen, Radboud University Medical Center, Amphia Ziekenhuis, Radboud Institute for Molecular Life Sciences, Amalia Kinderziekenhuis, Netherlands Organisation for Applied Scientific Research, University Medical Center Utrecht, Erasmus MC, University Medical Center Groningen, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam UMC Location Vrije Universiteit Amsterdam, Leiden University Medical Center, St. Antonius Ziekenhuis, Catharina Ziekenhuis, National Institute for Public Health and the Environment, Maastricht University Medical Centre, Amsterdam UMC Location University of Amsterdam, Emma Kinderziekenhuis
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W2914129259