A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Abstract

Background The Netherlands and Belgium have been among the first countries to offer non‐invasive prenatal testing (NIPT) as a first‐tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision‐making and perspectives of pregnant women who opted for NIPT in both countries. Methods A questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination. Results Differences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001). Conclusion Differences in women's decision‐making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country‐specific societal and cultural contexts.

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

“…While the uptake of NIPT did increase slightly after its introduction, most women still declined prenatal testing 27 . The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test‐choice decisions rather than the test itself 27–33 …”

“…27 The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test-choice decisions rather than the test itself. [27][28][29][30][31][32][33] Another initial fear was that the introduction of NIPT would result in a drastic decrease in the livebirth prevalence of Down syndrome. A register study of the period 2014-2018, which included the start of NIPT as a first-tier test in 2017, concluded this was not the case.…”

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

“…Patients undergoing NIPT represent a population sample, so their genomic data can be valuable for population studies. This is particularly relevant in countries where NIPT has been implemented in public prenatal care, such as the Netherlands and Belgium [ 30 ]. On the samples of pregnant Slovak, Czech, and Hungarian women, we have shown that without additional investment in laboratory consumables, NIPT has the potential to obtain population frequencies of large-scale CNVs.…”

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

“…9,[54][55][56] The majority of pregnant people prefer NIPT to other options due to its superior screening performance, earlier testing, lower risk of requiring an invasive diagnostic test, and fewer anxieties. 57,58 However, NIPT as a primary screen is a more costly strategy than the contingent model. 51,59 Furthermore, if NIPT replaces the nuchal translucency (NT) ultrasound at 11-13 weeks, then its implementation as a primary screen will also reduce opportunities for early ultrasound detection of fetal structural anomalies.…”

“…In recent years, several professional society statements have affirmed that NIPT could be offered to pregnant people as a primary screen, with various caveats around funding arrangements and other local access factors 9,54–56 . The majority of pregnant people prefer NIPT to other options due to its superior screening performance, earlier testing, lower risk of requiring an invasive diagnostic test, and fewer anxieties 57,58 . However, NIPT as a primary screen is a more costly strategy than the contingent model 51,59 .…”