Danish expanded newborn screening is a successful preventive public health programme

Allan Lund, Flemming Wibrand, Kristin Skogstrand, Arieh S Cohen, Mette Christensen, Rie Bak Jäpelt, Morten Dunø, Flemming Skovby, Bent Nørgaard-Pedersen, Niels Gregersen, Brage Storstein Andresen, Rikke Katrine Jentoft Olsen, David M. Hougaard

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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.

OriginalsprogEngelsk
ArtikelnummerA06190341
TidsskriftDanish Medical Journal
Vol/bind67
Udgave nummer1
ISSN1603-9629
StatusUdgivet - 1. jan. 2020

Fingeraftryk

Preventive Health Services
Public Health
Newborn Infant
Metabolic Diseases
Denmark

Citer dette

Lund, A., Wibrand, F., Skogstrand, K., Cohen, A. S., Christensen, M., Jäpelt, R. B., ... Hougaard, D. M. (2020). Danish expanded newborn screening is a successful preventive public health programme. Danish Medical Journal, 67(1), [A06190341].
Lund, Allan ; Wibrand, Flemming ; Skogstrand, Kristin ; Cohen, Arieh S ; Christensen, Mette ; Jäpelt, Rie Bak ; Dunø, Morten ; Skovby, Flemming ; Nørgaard-Pedersen, Bent ; Gregersen, Niels ; Andresen, Brage Storstein ; Olsen, Rikke Katrine Jentoft ; Hougaard, David M. / Danish expanded newborn screening is a successful preventive public health programme. I: Danish Medical Journal. 2020 ; Bind 67, Nr. 1.
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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.",
author = "Allan Lund and Flemming Wibrand and Kristin Skogstrand and Cohen, {Arieh S} 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 Hougaard, {David M.}",
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Lund, A, Wibrand, F, Skogstrand, K, Cohen, AS, Christensen, M, Jäpelt, RB, Dunø, M, Skovby, F, Nørgaard-Pedersen, B, Gregersen, N, Andresen, BS, Olsen, RKJ & Hougaard, DM 2020, 'Danish expanded newborn screening is a successful preventive public health programme', Danish Medical Journal, bind 67, nr. 1, A06190341.

Danish expanded newborn screening is a successful preventive public health programme. / Lund, Allan; Wibrand, Flemming; Skogstrand, Kristin; Cohen, Arieh S; Christensen, Mette; Jäpelt, Rie Bak; Dunø, Morten; Skovby, Flemming; Nørgaard-Pedersen, Bent; Gregersen, Niels; Andresen, Brage Storstein; Olsen, Rikke Katrine Jentoft; Hougaard, David M.

I: Danish Medical Journal, Bind 67, Nr. 1, A06190341, 01.01.2020.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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 S

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 M.

PY - 2020/1/1

Y1 - 2020/1/1

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.

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.

M3 - Journal article

VL - 67

JO - Danish Medical Journal

JF - Danish Medical Journal

SN - 1603-9629

IS - 1

M1 - A06190341

ER -

Lund A, Wibrand F, Skogstrand K, Cohen AS, Christensen M, Jäpelt RB et al. Danish expanded newborn screening is a successful preventive public health programme. Danish Medical Journal. 2020 jan 1;67(1). A06190341.