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

Autor: de Groot-van der Mooren M; Department of Neonatology, Amsterdam Public Health and Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., de Graaf G; Dutch Down Syndrome Foundation, Meppel, The Netherlands., Weijerman ME; Department of Pediatrics, Alrijne Hospital, Leiderdorp, The Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van der Kevie-Kersemaekers AMF; Department of Clinical Genetics, Amsterdam University Medical Centres, location AMC, Amsterdam, The Netherlands., Kooper AJA; Department of Clinical Genetics, Amsterdam University Medical Centres, location AMC, Amsterdam, The Netherlands., Voorhoeve E; Department of Clinical Genetics, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., Sikkema-Raddatz B; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Huijsdens-van Amsterdam K; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Engelen JJM; Department of Clinical Genetics, Research Institute Growth and Development (GROW), Maastricht University Medical Centre, Maastricht, The Netherlands., Smeets D; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van Kaam AH; Department of Neonatology and Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centres, location VUmc, Amsterdam, The Netherlands., Cornel MC; Department of Clinical Genetics and Amsterdam Public Health Research Institute, Amsterdam University Medical Centres, Vrije Universiteit Amsterdam, location VUmc, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2021 Sep; Vol. 41 (10), pp. 1351-1359. Date of Electronic Publication: 2021 Jul 01.
DOI: 10.1002/pd.6003
Abstrakt: 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.
(© 2021 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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