Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study. (1st July 2021)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Prenatal diagnosis. Volume 41:Number 10(2021)
• Page Start: 1351
• Page End: 1359
• Publication Date: 2021-07-01
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6003
• Languages: English
• ISSNs: 0197-3851

Abstract

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. Key points: What's already known about this topic? The introduction of NIPT changed the landscape in prenatal screening worldwide. No long‐term population‐based study on the impact of NIPT on DS LB prevalence has been published. What does this study add? This study shows how to calculate DS LB prevalence in the absence of a national registration program. Introducing NIPT caused no trend changes in DS LB prevalence and reduction percentage in the Netherlands.