Uptake of fetal aneuploidy screening after the introduction of the non‐invasive prenatal test: A national population‐based register study

Abstract

IntroductionThe 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 methodsA 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-square tests. ResultsBetween 2007 and 2013 FCT uptake increased from 14.8% to 29.5% (p=0.004). 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<0.0001). 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<0.0001). 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<0.0001). 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.

Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods

“…In 2018, the uptake of fetal aneuploidy screening was 46% in the Netherlands, 8 whereas the uptake of the free‐of‐charge 20‐week fetal anomaly scan was 83% 27 . Moreover, Posthumus et al 10 .…”

“…Advanced maternal age is an established risk‐factor for trisomy 21 34 . Previous research has shown that aneuploidy screening uptake is lower among women younger than 25, 8 likely due to a perceived lower risk of having a child with Down syndrome 35 . Because of this, the differences in uptake between socio‐economic disadvantaged and other areas may be less among younger women.…”

“…Anonymized pre‐test counselling data (maternal age and postal codes) and NIPT uptake between January 1st 2018 and December 31th 2018 were retrieved from Peridos for analysis. FCT uptake (overall 2.6% in 2018) 8 was not included in this study. Approximately 10% of pregnant women in the Netherlands did not receive counselling for prenatal screening in 2018.…”

“…Due to a law (the Dutch Population Screening Act) prohibiting the offer of screening for untreatable disorders without a governmental license, there are no commercial screening offers in the Netherlands 4 . After the introduction of NIPT as first‐tier screening test in the Netherlands, uptake of fetal aneuploidy screening increased from 34% in 2016 to 46% in 2018 8 . Compared to other European countries the uptake of fetal aneuploidy screening in the Netherlands is low 3 .…”

The Emergence and Global Spread of Noninvasive Prenatal Testing

“…The human rights of disabled people and their equality under the law are addressed by the Equality Act of 2010 (50), which followed the UK government's 2009 ratification of the UN Convention on the Rights of Persons with Disabilities (158). Termination of pregnancy on grounds of fetal anomaly is lawful within the terms of the 1967 Abortion Act in England, Scotland, and Wales (3).…”