TY - JOUR
T1 - Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark
T2 - 10 Years of Experience
AU - Lind-Holst, Marie
AU - Bækvad-Hansen, Marie
AU - Berglund, Agnethe
AU - Cohen, Arieh S
AU - Melgaard, Lars
AU - Skogstrand, Kristin
AU - Duno, Morten
AU - Main, Katharina M
AU - Hougaard, David Michael
AU - Gravholt, Claus Højbjerg
AU - Hansen, Dorte
N1 - © 2022 S. Karger AG, Basel.
PY - 2022
Y1 - 2022
N2 - INTRODUCTION: Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined.METHODS: All newborns in Denmark born during 1999-2018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review.RESULTS: A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (p = 0.07).DISCUSSION AND CONCLUSION: Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns.
AB - INTRODUCTION: Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined.METHODS: All newborns in Denmark born during 1999-2018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review.RESULTS: A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (p = 0.07).DISCUSSION AND CONCLUSION: Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns.
KW - 17-alpha-Hydroxyprogesterone
KW - Adrenal Hyperplasia, Congenital/diagnosis
KW - Denmark/epidemiology
KW - Female
KW - Humans
KW - Infant, Newborn
KW - Male
KW - Neonatal Screening
KW - Retrospective Studies
UR - http://www.scopus.com/inward/record.url?scp=85130003824&partnerID=8YFLogxK
U2 - 10.1159/000522230
DO - 10.1159/000522230
M3 - Journal article
C2 - 35114680
SN - 1663-2818
VL - 95
SP - 35
EP - 42
JO - Hormone research in paediatrics
JF - Hormone research in paediatrics
IS - 1
ER -