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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1351-1359
Number of pages9
JournalPrenatal Diagnosis
Issue number10
Early online date2021
Publication statusPublished - Sep 2021

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