National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark

Stina Lou; Olav B Petersen; Finn S. Jørgensen; Ida C B Lund; Susanne Kjærgaard; Danish Cytogenetic Central Registry Study Group; Ida Vogel

doi:10.1111/aogs.13273

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark

Stina Lou, Olav B Petersen, Finn S. Jørgensen, Ida C B Lund, Susanne Kjærgaard, Danish Cytogenetic Central Registry Study Group, Ida Vogel

Department of Clinical Medicine

23 Citations (Scopus)

Abstract

INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark.

MATERIAL AND METHODS: Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry.

RESULTS: From 1973 to 1993, screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994, invasive procedures decreased for the first time in 20 years. Following the introduction of an offer of combined screening to all pregnant women in 2004, the number of invasive procedures decreased markedly, while there was a concurrent increase in prenatal diagnoses of Down syndrome. Additionally, the number of Down syndrome live births decreased suddenly and significantly, but subsequently stabilized at 23-35 annual live births. Of these, the majority were diagnosed postnatally.

CONCLUSION: Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark.

Original language	English
Journal	Acta Obstetricia et Gynecologica Scandinavica
Volume	97
Issue number	2
Pages (from-to)	195-203
Number of pages	9
ISSN	0001-6349
DOIs	https://doi.org/10.1111/aogs.13273
Publication status	Published - 1 Feb 2018

Keywords

Denmark/epidemiology
Down Syndrome/diagnosis
Female
Humans
Infant, Newborn
Male
Mass Screening/methods
Maternal Age
Nuchal Translucency Measurement/methods
Prenatal Diagnosis/methods
Ultrasonography, Prenatal/methods

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Lou, S., Petersen, O. B., Jørgensen, F. S., Lund, I. C. B., Kjærgaard, S., Danish Cytogenetic Central Registry Study Group, & Vogel, I. (2018). National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark. Acta Obstetricia et Gynecologica Scandinavica, 97(2), 195-203. https://doi.org/10.1111/aogs.13273

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abstract = "INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark.MATERIAL AND METHODS: Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry.RESULTS: From 1973 to 1993, screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994, invasive procedures decreased for the first time in 20 years. Following the introduction of an offer of combined screening to all pregnant women in 2004, the number of invasive procedures decreased markedly, while there was a concurrent increase in prenatal diagnoses of Down syndrome. Additionally, the number of Down syndrome live births decreased suddenly and significantly, but subsequently stabilized at 23-35 annual live births. Of these, the majority were diagnosed postnatally.CONCLUSION: Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark.",

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author = "Stina Lou and Petersen, {Olav B} and J{\o}rgensen, {Finn S.} and Lund, {Ida C B} and Susanne Kj{\ae}rgaard and {Danish Cytogenetic Central Registry Study Group} and Ida Vogel",

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AB - INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (>90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences of implementing comprehensive, national prenatal screening guidelines. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark.MATERIAL AND METHODS: Data on invasive procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry.RESULTS: From 1973 to 1993, screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994, invasive procedures decreased for the first time in 20 years. Following the introduction of an offer of combined screening to all pregnant women in 2004, the number of invasive procedures decreased markedly, while there was a concurrent increase in prenatal diagnoses of Down syndrome. Additionally, the number of Down syndrome live births decreased suddenly and significantly, but subsequently stabilized at 23-35 annual live births. Of these, the majority were diagnosed postnatally.CONCLUSION: Though prenatal screening technologies constantly improve, it was the introduction of and adherence to national guidelines that resulted in marked shifts in screening procedures and outcome in Denmark.

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KW - Nuchal Translucency Measurement/methods

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National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark

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