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Article ; Online: Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

de Groot-van der Mooren, Maurike / de Graaf, Gert / Weijerman, Michel E / Hoffer, Mariette J V / Knijnenburg, Jeroen / van der Kevie-Kersemaekers, Anne-Marie M F / Kooper, Angelique J A / Voorhoeve, Els / Sikkema-Raddatz, Birgit / van Zutven, Laura J C M / Srebniak, Malgorzata Ilona / Huijsdens-van Amsterdam, Karin / Engelen, John J M / Smeets, Dominique / van Kaam, Anton H / Cornel, Martina C

Prenatal diagnosis

2021  Volume 41, Issue 10, Page(s) 1351–1359

Abstract: Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.: Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014- ...

Abstract Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.
Method: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014-2018) and previous published data (1991-2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data.
Results: DS LB prevalence increased from 11.6/10,000 in 1991 to 15.9/10,000 in 2002 (regression coefficient 0.246 [95% CI: 0.105-0.388; p = 0.003]). After 2002, LB prevalence decreased to 11.3/10,000 in 2014 and further to 9.9/10,000 in 2018 (regression coefficient 0.234 (95% CI: -0.338 to -0.131; p < 0.001). The reduction percentage increased from 26% in 1991 to 55.2% in 2018 (regression coefficient 0.012 (95% CI: 0.010-0.013; p < 0.001)). There were no trend changes after introducing NIPT as second-tier (2014) and first-tier test (2017).
Conclusions: Introducing NIPT did not change the decreasing trend in DS LB prevalence and increasing trend in reduction percentage. These trends may be caused by a broader development of more prenatal testing that had already started before introducing NIPT.
MeSH term(s) Adult ; Down Syndrome/diagnostic imaging ; Down Syndrome/epidemiology ; Female ; Humans ; Live Birth/epidemiology ; Live Birth/genetics ; Netherlands/epidemiology ; Noninvasive Prenatal Testing/methods ; Noninvasive Prenatal Testing/standards ; Noninvasive Prenatal Testing/statistics & numerical data ; Pregnancy ; Prevalence ; Registries/statistics & numerical data
Language English
Publishing date 2021-07-01
Publishing country England
Document type Journal Article
ZDB-ID 82031-3
ISSN 1097-0223 ; 0197-3851
ISSN (online) 1097-0223
ISSN 0197-3851
DOI 10.1002/pd.6003
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