Karuna R M van der Meij1, Maurike de Groot-van Mooren2, Ellen W S Carbo3, Mijntje J Pieters4,5, Wendy Rodenburg3, Erik A Sistermans1, Martina C Cornel1, Lidewij Henneman1. 1. Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands. 2. Department of Pediatrics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands. 3. Center for Health Protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands. 4. Department of Obstetrics and Gynecology, GROW School of Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands. 5. Foundation Prenatal Screening Southeast Region of the Netherlands, Maastricht, the Netherlands, On Behalf of the Regional Centers for Prenatal Screening, Maastricht, the Netherlands.
Abstract
INTRODUCTION: The introduction of the non-invasive prenatal test (NIPT) has shifted the prenatal screening landscape. Countries are exploring ways to integrate NIPT in their national prenatal screening programs, either as a first- or second-tier test. This study aimed to describe how the uptake of fetal aneuploidy screening changed after the introduction of NIPT as a second-tier and as a first-tier test within the national prenatal screening program of the Netherlands. MATERIAL AND METHODS: A population-based register study in the Netherlands, recording uptake of fetal aneuploidy screening. Data from all pregnant women choosing to have the first-trimester combined test (FCT) or first-tier NIPT between January 2007 and March 2019 were retrospectively collected using national registration systems. Uptake percentages for fetal aneuploidy screening (FCT and NIPT) were calculated and stratified by region and maternal age. Statistical significance was determined using trend analysis and chi-squared tests. RESULTS: Between 2007 and 2013 FCT uptake increased from 14.8% to 29.5% (P = .004). In April 2014 NIPT was introduced as a second-tier test for high-risk women after FCT (TRIDENT-1 study). FCT uptake rose from 29.5% in 2013 to 34.2% in 2015 (P < .0001). After the introduction of NIPT as a first-tier test for all women in April 2017 (TRIDENT-2 study), FCT uptake declined significantly from 35.8% in 2016 to 2.6% in 2018 (P < .0001). NIPT uptake increased to 43.4% in 2018. Regionally, NIPT uptake ranged from 31.8% to 67.9%. Total uptake (FCT and NIPT) between 2007 and 2018 increased significantly from 14.8% to 45.9% (P < .0001). However, total uptake stabilized at 46% for both years of TRIDENT-2 (April 2017-March 2019). CONCLUSIONS: An increase in total fetal aneuploidy screening uptake up to 45.9% was observed after the introduction of NIPT. Uptake appears to have stabilized within a year after introducing first-tier NIPT.
INTRODUCTION: The introduction of the non-invasive prenatal test (NIPT) has shifted the prenatal screening landscape. Countries are exploring ways to integrate NIPT in their national prenatal screening programs, either as a first- or second-tier test. This study aimed to describe how the uptake of fetal aneuploidy screening changed after the introduction of NIPT as a second-tier and as a first-tier test within the national prenatal screening program of the Netherlands. MATERIAL AND METHODS: A population-based register study in the Netherlands, recording uptake of fetal aneuploidy screening. Data from all pregnant women choosing to have the first-trimester combined test (FCT) or first-tier NIPT between January 2007 and March 2019 were retrospectively collected using national registration systems. Uptake percentages for fetal aneuploidy screening (FCT and NIPT) were calculated and stratified by region and maternal age. Statistical significance was determined using trend analysis and chi-squared tests. RESULTS: Between 2007 and 2013 FCT uptake increased from 14.8% to 29.5% (P = .004). In April 2014 NIPT was introduced as a second-tier test for high-risk women after FCT (TRIDENT-1 study). FCT uptake rose from 29.5% in 2013 to 34.2% in 2015 (P < .0001). After the introduction of NIPT as a first-tier test for all women in April 2017 (TRIDENT-2 study), FCT uptake declined significantly from 35.8% in 2016 to 2.6% in 2018 (P < .0001). NIPT uptake increased to 43.4% in 2018. Regionally, NIPT uptake ranged from 31.8% to 67.9%. Total uptake (FCT and NIPT) between 2007 and 2018 increased significantly from 14.8% to 45.9% (P < .0001). However, total uptake stabilized at 46% for both years of TRIDENT-2 (April 2017-March 2019). CONCLUSIONS: An increase in total fetal aneuploidy screening uptake up to 45.9% was observed after the introduction of NIPT. Uptake appears to have stabilized within a year after introducing first-tier NIPT.
Authors: Linda Martin; Janneke T Gitsels-van der Wal; Caroline J Bax; Mijntje J Pieters; Jacqueline C I Y Reijerink-Verheij; Robert-Jan Galjaard; Lidewij Henneman Journal: PLoS One Date: 2022-05-02 Impact factor: 3.752
Authors: Karuna R M van der Meij; Annabel Njio; Linda Martin; Janneke T Gitsels-van der Wal; Mireille N Bekker; Elsbeth H van Vliet-Lachotzki; A Jeanine E M van der Ven; Adriana Kater-Kuipers; Danielle R M Timmermans; Erik A Sistermans; Robert-Jan H Galjaard; Lidewij Henneman Journal: Eur J Hum Genet Date: 2021-08-13 Impact factor: 5.351
Authors: Karuna R M van der Meij; Caroline Kooij; Mireille N Bekker; Robert-Jan H Galjaard; Lidewij Henneman Journal: Prenat Diagn Date: 2021-09-14 Impact factor: 3.242
Authors: 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 Journal: Prenat Diagn Date: 2021-07-01 Impact factor: 3.050