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Danish expanded newborn screening is a successful preventive public health programme

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Lund, A, Wibrand, F, Skogstrand, K, Cohen, A, Christensen, M, Jäpelt, RB, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, BS, Olsen, RKJ & Hougaard, D 2020, 'Danish expanded newborn screening is a successful preventive public health programme' Danish Medical Journal, vol. 67, no. 1.

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Lund, Allan ; Wibrand, Flemming ; Skogstrand, Kristin ; Cohen, Arieh ; Christensen, Mette ; Jäpelt, Rie Bak ; Dunø, Morten ; Skovby, Flemming ; Nørgaard-Pedersen, Bent ; Gregersen, Niels ; Andresen, Brage Storstein ; Olsen, Rikke Katrine Jentoft ; Hougaard, David. / Danish expanded newborn screening is a successful preventive public health programme. In: Danish Medical Journal. 2020 ; Vol. 67, No. 1.

Bibtex

@article{23b3376848c54ba885f80d544c49c2fe,
title = "Danish expanded newborn screening is a successful preventive public health programme",
abstract = "INTRODUCTION: Newborn screening is a public health programme for early diagnosis of treatable diseases.METHODS: The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009, followed by routine screening with informed dissent. A total of 967,780 newborns were screened; 82,930 were unscreened. Furthermore, a historic cohort of clinically diagnosed children born in the 1992-2001 period was included. Children in the unscreened and historic cohorts were evaluated for the same diseases as were the screened children. Dried blood spot samples were collected locally and sent for screening analyses. We recorded newborns with true and false positive results as well as false negative results and their clinical signs at screening and at the last follow-up.RESULTS: A total of 603 samples were screen positive: 354 false positives and 249 true positives (222 newborns and 27 mothers). The positive predictive value (PPV) was 41{\%} for the entire screening period; 62{\%} for 2018. The false positive rate (FPR) was 0.036{\%} overall; 0.024{\%} for 2018. The overall prevalence of diseases was 1:3,900; in the historic cohort, the prevalence of the same diseases was 1:8,300; 7.3{\%} had symptoms at the time of screening. At follow-up, 93{\%} of the children had no clinically significant sequelae. Among 82,930 unscreened newborns, 27 (1:3,000) had eNBS panel diseases, some with severe manifestations.CONCLUSIONS: This update of eNBS in Denmark confirms that eNBS is a successful preventive public health programme. Early treatment in a latent phase of disease is effective and screening should be extended to other diseases not currently in the programme.FUNDING: The work was supported by grants from The Ronald McDonald B{\o}rnefond, Danmarks Sundhedsfond, Direkt{\o}r Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises B{\o}rnehospitals Forskningsfond, L{\ae}ge Sofus Carl Emil Friis og Hustru Olga Doris Friis's Legat, Aase and Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanf{\o}refonden, Fonden til L{\ae}gevidenskabens Fremme and Danish Medical Research Council.TRIAL REGISTRATION: not relevant.",
author = "Allan Lund and Flemming Wibrand and Kristin Skogstrand and Arieh Cohen and Mette Christensen and J{\"a}pelt, {Rie Bak} and Morten Dun{\o} and Flemming Skovby and Bent N{\o}rgaard-Pedersen and Niels Gregersen and Andresen, {Brage Storstein} and Olsen, {Rikke Katrine Jentoft} and David Hougaard",
note = "Articles published in the DMJ are “open access”. This means that the articles are distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits any non-commercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.",
year = "2020",
month = "1",
language = "English",
volume = "67",
journal = "Danish Medical Bulletin (Online)",
issn = "1603-9629",
publisher = "Almindelige Danske Laegeforening",
number = "1",

}

RIS

TY - JOUR

T1 - Danish expanded newborn screening is a successful preventive public health programme

AU - Lund, Allan

AU - Wibrand, Flemming

AU - Skogstrand, Kristin

AU - Cohen, Arieh

AU - Christensen, Mette

AU - Jäpelt, Rie Bak

AU - Dunø, Morten

AU - Skovby, Flemming

AU - Nørgaard-Pedersen, Bent

AU - Gregersen, Niels

AU - Andresen, Brage Storstein

AU - Olsen, Rikke Katrine Jentoft

AU - Hougaard, David

N1 - Articles published in the DMJ are “open access”. This means that the articles are distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits any non-commercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

PY - 2020/1

Y1 - 2020/1

N2 - INTRODUCTION: Newborn screening is a public health programme for early diagnosis of treatable diseases.METHODS: The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009, followed by routine screening with informed dissent. A total of 967,780 newborns were screened; 82,930 were unscreened. Furthermore, a historic cohort of clinically diagnosed children born in the 1992-2001 period was included. Children in the unscreened and historic cohorts were evaluated for the same diseases as were the screened children. Dried blood spot samples were collected locally and sent for screening analyses. We recorded newborns with true and false positive results as well as false negative results and their clinical signs at screening and at the last follow-up.RESULTS: A total of 603 samples were screen positive: 354 false positives and 249 true positives (222 newborns and 27 mothers). The positive predictive value (PPV) was 41% for the entire screening period; 62% for 2018. The false positive rate (FPR) was 0.036% overall; 0.024% for 2018. The overall prevalence of diseases was 1:3,900; in the historic cohort, the prevalence of the same diseases was 1:8,300; 7.3% had symptoms at the time of screening. At follow-up, 93% of the children had no clinically significant sequelae. Among 82,930 unscreened newborns, 27 (1:3,000) had eNBS panel diseases, some with severe manifestations.CONCLUSIONS: This update of eNBS in Denmark confirms that eNBS is a successful preventive public health programme. Early treatment in a latent phase of disease is effective and screening should be extended to other diseases not currently in the programme.FUNDING: The work was supported by grants from The Ronald McDonald Børnefond, Danmarks Sundhedsfond, Direktør Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises Børnehospitals Forskningsfond, Læge Sofus Carl Emil Friis og Hustru Olga Doris Friis's Legat, Aase and Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanførefonden, Fonden til Lægevidenskabens Fremme and Danish Medical Research Council.TRIAL REGISTRATION: not relevant.

AB - INTRODUCTION: Newborn screening is a public health programme for early diagnosis of treatable diseases.METHODS: The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009, followed by routine screening with informed dissent. A total of 967,780 newborns were screened; 82,930 were unscreened. Furthermore, a historic cohort of clinically diagnosed children born in the 1992-2001 period was included. Children in the unscreened and historic cohorts were evaluated for the same diseases as were the screened children. Dried blood spot samples were collected locally and sent for screening analyses. We recorded newborns with true and false positive results as well as false negative results and their clinical signs at screening and at the last follow-up.RESULTS: A total of 603 samples were screen positive: 354 false positives and 249 true positives (222 newborns and 27 mothers). The positive predictive value (PPV) was 41% for the entire screening period; 62% for 2018. The false positive rate (FPR) was 0.036% overall; 0.024% for 2018. The overall prevalence of diseases was 1:3,900; in the historic cohort, the prevalence of the same diseases was 1:8,300; 7.3% had symptoms at the time of screening. At follow-up, 93% of the children had no clinically significant sequelae. Among 82,930 unscreened newborns, 27 (1:3,000) had eNBS panel diseases, some with severe manifestations.CONCLUSIONS: This update of eNBS in Denmark confirms that eNBS is a successful preventive public health programme. Early treatment in a latent phase of disease is effective and screening should be extended to other diseases not currently in the programme.FUNDING: The work was supported by grants from The Ronald McDonald Børnefond, Danmarks Sundhedsfond, Direktør Ib Henriksens Fond, Ragnhild Ibsens Legat til Medicinsk Forskning, Gerda og Aage Haenschs Fond, Dronning Louises Børnehospitals Forskningsfond, Læge Sofus Carl Emil Friis og Hustru Olga Doris Friis's Legat, Aase and Ejnar Danielsens Fond, Oda og Hans Svenningsens Fond, Fonden af 1870, Vanførefonden, Fonden til Lægevidenskabens Fremme and Danish Medical Research Council.TRIAL REGISTRATION: not relevant.

M3 - Journal article

VL - 67

JO - Danish Medical Bulletin (Online)

JF - Danish Medical Bulletin (Online)

SN - 1603-9629

IS - 1

ER -

ID: 58941072