Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

Abstract

Due to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

Every mother and every fetus matters: A positive pregnancy test = multiple offerings of reproductive risk screening for personal, family, and specific obstetrical‐fetal conditions

“…The main reason to accept screening was “seeking reassurance” and the main reason to decline was “every child is welcome”. The majority (87.7%) did not perceive societal pressure to test 104 . Aneuploidy serum screening in the USA has changed from 2012 to 2020 with fewer testing laboratories available, a shift toward larger laboratories, and a 2.5‐fold reduction in pregnancies tested because of the introduction of cell‐free DNA screening technology 105 …”

“…The majority (87.7%) did not perceive societal pressure to test. 104 Aneuploidy serum screening in the USA has changed from 2012 to 2020 with fewer testing laboratories available, a shift toward larger laboratories, and a 2.5-fold reduction in pregnancies tested because of the introduction of cell-free DNA screening technology. 105 First-trimester screening for pre-eclampsia is being offered more commonly.…”

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

“…There are also ongoing concerns that the noninvasive manner of this testing process will lead to it becoming routinely offered by providers and accepted by parents without receiving adequate information of possible outcomes [12], which in the setting of population screening for an expanded panel of de novo conditions raises concern. In the Netherlands, where NIPT is offered within a national prenatal screening program, women value high-quality counselling that emphasises informed decision-making based on personal values and freedom to choose [14]. Women who participated in the Dutch TRIDENT 2 study rejected the view that NIPT is a morally responsible screening test for disorders that can only be prevented by termination of pregnancy [15].…”

NIPT and the concerns regarding ‘routinisation’

“…Van der Meij et al [ 3 ] and Garcia et al [ 4 ] have explored these issues in the Dutch context where NIPT is currently offered as a first-tier screening test as part of a nationwide implementation study (TRIDENT-2). Neither of these studies confirmed the aforementioned concerns about routinization.…”