This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Steigert, M. Articles by Torresani, T. Search for Related Content PubMed PubMed Citation Articles by Steigert, M. Articles by Torresani, T.

High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

Department of Endocrinology and Diabetology, University Children’s Hospital, CH-8032 Zurich, Switzerland

Address all correspondence and requests for reprints to: Eugen J. Schoenle, M.D., Department of Endocrinology and Diabetology, University Children’s Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. E-mail: . schoenle{at}kispi.unizh.ch

Abstract

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children’s Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

This article has been cited by other articles:

				P. Cavarzere, D. Samara-Boustani, I. Flechtner, M. Dechaux, C. Elie, V. Tardy, Y. Morel, and M. Polak Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia Eur. J. Endocrinol., August 1, 2009; 161(2): 285 - 292. [Abstract] [Full Text] [PDF]

				S. K. Varma False Negative CAH Screening Test More Likely in Girls AAP Grand Rounds, April 1, 2006; 15(4): 47 - 48. [Full Text] [PDF]

				K. Homma, T. Hasegawa, E. Takeshita, K. Watanabe, M. Anzo, T. Toyoura, K. Jinno, T. Ohashi, T. Hamajima, Y. Takahashi, et al. Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates J. Clin. Endocrinol. Metab., December 1, 2004; 89(12): 6087 - 6091. [Abstract] [Full Text] [PDF]

				B. Olgemoller, A. A. Roscher, B. Liebl, and R. Fingerhut Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value J. Clin. Endocrinol. Metab., December 1, 2003; 88(12): 5790 - 5794. [Abstract] [Full Text] [PDF]