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Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience

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Harvard

Lind-Holst, M, Bækvad-Hansen, M, Berglund, A, Cohen, AS, Melgaard, L, Skogstrand, K, Duno, M, Main, KM, Hougaard, DM, Gravholt, CH & Hansen, D 2022, 'Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience', Hormone research in paediatrics, bind 95, nr. 1, s. 35-42. https://doi.org/10.1159/000522230

APA

Lind-Holst, M., Bækvad-Hansen, M., Berglund, A., Cohen, A. S., Melgaard, L., Skogstrand, K., Duno, M., Main, K. M., Hougaard, D. M., Gravholt, C. H., & Hansen, D. (2022). Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience. Hormone research in paediatrics, 95(1), 35-42. https://doi.org/10.1159/000522230

CBE

Lind-Holst M, Bækvad-Hansen M, Berglund A, Cohen AS, Melgaard L, Skogstrand K, Duno M, Main KM, Hougaard DM, Gravholt CH, Hansen D. 2022. Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience. Hormone research in paediatrics. 95(1):35-42. https://doi.org/10.1159/000522230

MLA

Vancouver

Lind-Holst M, Bækvad-Hansen M, Berglund A, Cohen AS, Melgaard L, Skogstrand K o.a. Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience. Hormone research in paediatrics. 2022;95(1):35-42. https://doi.org/10.1159/000522230

Author

Lind-Holst, Marie ; Bækvad-Hansen, Marie ; Berglund, Agnethe ; Cohen, Arieh S ; Melgaard, Lars ; Skogstrand, Kristin ; Duno, Morten ; Main, Katharina M ; Hougaard, David Michael ; Gravholt, Claus Højbjerg ; Hansen, Dorte. / Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark : 10 Years of Experience. I: Hormone research in paediatrics. 2022 ; Bind 95, Nr. 1. s. 35-42.

Bibtex

@article{841a0c2fdb5b4d1db0c3332be75c951f,
title = "Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience",
abstract = "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.",
keywords = "17-alpha-Hydroxyprogesterone, Adrenal Hyperplasia, Congenital/diagnosis, Denmark/epidemiology, Female, Humans, Infant, Newborn, Male, Neonatal Screening, Retrospective Studies",
author = "Marie Lind-Holst and Marie B{\ae}kvad-Hansen and Agnethe Berglund and Cohen, {Arieh S} and Lars Melgaard and Kristin Skogstrand and Morten Duno and Main, {Katharina M} and Hougaard, {David Michael} and Gravholt, {Claus H{\o}jbjerg} and Dorte Hansen",
note = "{\textcopyright} 2022 S. Karger AG, Basel.",
year = "2022",
doi = "10.1159/000522230",
language = "English",
volume = "95",
pages = "35--42",
journal = "Hormone Research in Paediatrics",
issn = "1663-2818",
publisher = "S.Karger AG",
number = "1",

}

RIS

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

VL - 95

SP - 35

EP - 42

JO - Hormone Research in Paediatrics

JF - Hormone Research in Paediatrics

SN - 1663-2818

IS - 1

ER -

ID: 79164159