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.
N1 - Publisher Copyright:
© 2019 Author(s).
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
C2 - 30712004
SN - 0003-9888
VL - 104
SP - 653
EP - 657
JO - Archives of Disease in Childhood
JF - Archives of Disease in Childhood
IS - 7
ER -