Total and live birth prevalence of singleton pregnancies with Down’s Syndrome in Scotland between 2000 and 2021: a population based study

Elinor Sebire; Rachael Wood; Clara Calvert; Rute Vieira

doi:10.1016/j.lanepe.2026.101639

Total and live birth prevalence of singleton pregnancies with Down’s Syndrome in Scotland between 2000 and 2021: a population based study

Elinor Sebire
, Rachael Wood
, Clara Calvert
, Rute Vieira^* (Corresponding Author)

^*Corresponding author for this work

Public Health Scotland

Research output: Contribution to journal › Article › peer-review

Abstract

Background: Down’s syndrome (DS) is the most common chromosomal congenital condition diagnosed in pregnancy. Antenatal screening for DS is available in Scotland, and in September 2020, non-invasive prenatal testing (NIPT) was added to the screening pathway. This study aimed to examine trends in total birth (TB) and live birth (LB) prevalence of DS (2000–2021) in Scotland and associations with maternal and infant socio-demographic factors.
Methods: A retrospective, observational, population-based study using the Scottish Linked Congenital Conditions Dataset (SLiCCD). Poisson and generalised Poisson regression analyses were used to model TB and LB prevalences of DS. Associations with year, maternal age, Scottish Index of Multiple Deprivation, health board of residence, and infant sex (live births only) were assessed. Prevalence rate ratios (PRR), 95% confidence intervals (CIs) and p-values were reported.
Findings: There were 2098 singleton pregnancies and 1135 live births with DS (2000-2021), with a TB prevalence of 17·4 (95%CI:16·7,18·2) per 10,000 TBs, and LB prevalence of 9·5 (95%CI:8·9,10·0) per 10,000 LBs. There was evidence of a non-linear time trend in TB prevalence, increasing between 2013-2015 [PRR:1·13 (95%CI:1·07,1·19);p<0·001] and decreasing between 2016–2021 [PRR:0·95 (95%CI:0·92,0·98);p=0·002]. No time trend was observed for LB prevalence. Maternal age and health board of residence were associated with TB and LB prevalence of DS.
Interpretation: Our population-based insights into TB and LB prevalence of DS in Scotland are important in establishing baseline trends to investigate the impact of NIPT. This enables up-to-date counselling for those undergoing DS screening, and appropriate planning of healthcare services.

Original language	English
Article number	101639
Number of pages	14
Journal	The Lancet Regional Health - Europe
Volume	65
Early online date	6 Mar 2026
DOIs	https://doi.org/10.1016/j.lanepe.2026.101639
Publication status	Published - Jun 2026

Bibliographical note

For the purpose of open access, the author has applied a CC BY Creative Commons Attribution (CC BY) licence to any Author Accepted Manuscript arising from this submission.
We would like to thank the CARDRISS analyst team within Public Health Scotland in providing relevant data extracts.

Data Availability Statement

Subject to governance approvals, researchers can access pseudonymised extracts of datasets used in this study through the Scottish NHS Safe Haven facility supported by Public Health Scotland. Interested researchers should submit an initial enquiry form to Research Data Scotland (https://www.researchdata.scot/accessing-data/).

Funding

ES received funding from the Medical Research Scotland (MRS) PhD Studentship (grant no. PHD-50200-2020).

Funders	Funder number
Medical Research Scotland	PHD-50200-2020

Keywords

Down’s syndrome
Prevalence
Temporal trend
Socio-demographic factors
Scotland

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Sebire_etal_TLRHE_Total_and_Live_Birth_VOR
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Final published version, 0.99 MBLicence: CC BY

Cite this

@article{8d0b40a96df14c8db27048d444ee8eba,

title = "Total and live birth prevalence of singleton pregnancies with Down{\textquoteright}s Syndrome in Scotland between 2000 and 2021: a population based study",

abstract = "Background: Down{\textquoteright}s syndrome (DS) is the most common chromosomal congenital condition diagnosed in pregnancy. Antenatal screening for DS is available in Scotland, and in September 2020, non-invasive prenatal testing (NIPT) was added to the screening pathway. This study aimed to examine trends in total birth (TB) and live birth (LB) prevalence of DS (2000–2021) in Scotland and associations with maternal and infant socio-demographic factors. Methods: A retrospective, observational, population-based study using the Scottish Linked Congenital Conditions Dataset (SLiCCD). Poisson and generalised Poisson regression analyses were used to model TB and LB prevalences of DS. Associations with year, maternal age, Scottish Index of Multiple Deprivation, health board of residence, and infant sex (live births only) were assessed. Prevalence rate ratios (PRR), 95\% confidence intervals (CIs) and p-values were reported. Findings: There were 2098 singleton pregnancies and 1135 live births with DS (2000-2021), with a TB prevalence of 17·4 (95\%CI:16·7,18·2) per 10,000 TBs, and LB prevalence of 9·5 (95\%CI:8·9,10·0) per 10,000 LBs. There was evidence of a non-linear time trend in TB prevalence, increasing between 2013-2015 [PRR:1·13 (95\%CI:1·07,1·19);p<0·001] and decreasing between 2016–2021 [PRR:0·95 (95\%CI:0·92,0·98);p=0·002]. No time trend was observed for LB prevalence. Maternal age and health board of residence were associated with TB and LB prevalence of DS. Interpretation: Our population-based insights into TB and LB prevalence of DS in Scotland are important in establishing baseline trends to investigate the impact of NIPT. This enables up-to-date counselling for those undergoing DS screening, and appropriate planning of healthcare services. ",

keywords = "Down{\textquoteright}s syndrome, Prevalence, Temporal trend, Socio-demographic factors, Scotland",

author = "Elinor Sebire and Rachael Wood and Clara Calvert and Rute Vieira",

note = "For the purpose of open access, the author has applied a CC BY Creative Commons Attribution (CC BY) licence to any Author Accepted Manuscript arising from this submission. We would like to thank the CARDRISS analyst team within Public Health Scotland in providing relevant data extracts.",

year = "2026",

month = jun,

doi = "10.1016/j.lanepe.2026.101639",

language = "English",

volume = "65",

journal = "The Lancet Regional Health - Europe",

issn = "2666-7762",

publisher = "Elsevier Ltd",

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TY - JOUR

T1 - Total and live birth prevalence of singleton pregnancies with Down’s Syndrome in Scotland between 2000 and 2021: a population based study

AU - Sebire, Elinor

AU - Wood, Rachael

AU - Calvert, Clara

AU - Vieira, Rute

N1 - For the purpose of open access, the author has applied a CC BY Creative Commons Attribution (CC BY) licence to any Author Accepted Manuscript arising from this submission. We would like to thank the CARDRISS analyst team within Public Health Scotland in providing relevant data extracts.

PY - 2026/6

Y1 - 2026/6

N2 - Background: Down’s syndrome (DS) is the most common chromosomal congenital condition diagnosed in pregnancy. Antenatal screening for DS is available in Scotland, and in September 2020, non-invasive prenatal testing (NIPT) was added to the screening pathway. This study aimed to examine trends in total birth (TB) and live birth (LB) prevalence of DS (2000–2021) in Scotland and associations with maternal and infant socio-demographic factors. Methods: A retrospective, observational, population-based study using the Scottish Linked Congenital Conditions Dataset (SLiCCD). Poisson and generalised Poisson regression analyses were used to model TB and LB prevalences of DS. Associations with year, maternal age, Scottish Index of Multiple Deprivation, health board of residence, and infant sex (live births only) were assessed. Prevalence rate ratios (PRR), 95% confidence intervals (CIs) and p-values were reported. Findings: There were 2098 singleton pregnancies and 1135 live births with DS (2000-2021), with a TB prevalence of 17·4 (95%CI:16·7,18·2) per 10,000 TBs, and LB prevalence of 9·5 (95%CI:8·9,10·0) per 10,000 LBs. There was evidence of a non-linear time trend in TB prevalence, increasing between 2013-2015 [PRR:1·13 (95%CI:1·07,1·19);p<0·001] and decreasing between 2016–2021 [PRR:0·95 (95%CI:0·92,0·98);p=0·002]. No time trend was observed for LB prevalence. Maternal age and health board of residence were associated with TB and LB prevalence of DS. Interpretation: Our population-based insights into TB and LB prevalence of DS in Scotland are important in establishing baseline trends to investigate the impact of NIPT. This enables up-to-date counselling for those undergoing DS screening, and appropriate planning of healthcare services.

AB - Background: Down’s syndrome (DS) is the most common chromosomal congenital condition diagnosed in pregnancy. Antenatal screening for DS is available in Scotland, and in September 2020, non-invasive prenatal testing (NIPT) was added to the screening pathway. This study aimed to examine trends in total birth (TB) and live birth (LB) prevalence of DS (2000–2021) in Scotland and associations with maternal and infant socio-demographic factors. Methods: A retrospective, observational, population-based study using the Scottish Linked Congenital Conditions Dataset (SLiCCD). Poisson and generalised Poisson regression analyses were used to model TB and LB prevalences of DS. Associations with year, maternal age, Scottish Index of Multiple Deprivation, health board of residence, and infant sex (live births only) were assessed. Prevalence rate ratios (PRR), 95% confidence intervals (CIs) and p-values were reported. Findings: There were 2098 singleton pregnancies and 1135 live births with DS (2000-2021), with a TB prevalence of 17·4 (95%CI:16·7,18·2) per 10,000 TBs, and LB prevalence of 9·5 (95%CI:8·9,10·0) per 10,000 LBs. There was evidence of a non-linear time trend in TB prevalence, increasing between 2013-2015 [PRR:1·13 (95%CI:1·07,1·19);p<0·001] and decreasing between 2016–2021 [PRR:0·95 (95%CI:0·92,0·98);p=0·002]. No time trend was observed for LB prevalence. Maternal age and health board of residence were associated with TB and LB prevalence of DS. Interpretation: Our population-based insights into TB and LB prevalence of DS in Scotland are important in establishing baseline trends to investigate the impact of NIPT. This enables up-to-date counselling for those undergoing DS screening, and appropriate planning of healthcare services.

KW - Down’s syndrome

KW - Prevalence

KW - Temporal trend

KW - Socio-demographic factors

KW - Scotland

U2 - 10.1016/j.lanepe.2026.101639

DO - 10.1016/j.lanepe.2026.101639

M3 - Article

SN - 2666-7762

VL - 65

JO - The Lancet Regional Health - Europe

JF - The Lancet Regional Health - Europe

M1 - 101639

ER -

Total and live birth prevalence of singleton pregnancies with Down’s Syndrome in Scotland between 2000 and 2021: a population based study

Abstract

Bibliographical note

Data Availability Statement

Funding

Keywords

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