RT Journal Article
SR Electronic
T1 Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP archdischild-2018-315972
DO 10.1136/archdischild-2018-315972
A1 Annelieke A A van der Linde
A1 Yvonne Schönbeck
A1 Hetty J van der Kamp
A1 Erica L T van den Akker
A1 Mirjam E van Albada
A1 Anita Boelen
A1 Martijn J J Finken
A1 Sabine E Hannema
A1 Gera Hoorweg-Nijman
A1 Roelof J Odink
A1 Peter C J I Schielen
A1 Saartje Straetemans
A1 Paul S van Trotsenburg
A1 Hedi L Claahsen-van der Grinten
A1 Paul H Verkerk
YR 2019
UL http://adc.bmj.com/content/early/2019/02/01/archdischild-2018-315972.abstract
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.