Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program

The introduction of non-invasive prenatal testing (NIPT) as a screening test for the detection of fetal aneuploidies has transformed prenatal screening worldwide. NIPT is a safe and reliable screening method to detect fetal aneuploidies in maternal blood. In April 2017, first-tier NIPT was implemented in the Netherlands for all pregnant women as part of the TRIDENT-2 study initiated by the Dutch NIPT consortium. This thesis aimed to evaluate the responsible introduction of first-tier NIPT in the Dutch prenatal screening program. The studies in this thesis focus on aspects related to the implementation of NIPT (part I) and the perspectives of pregnant women (part II)

Factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT)

Objective: To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT). Method: A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening with NIPT (TRIDENT-2 study). Respondents were selectively recruited from three hospitals and 19 midwifery practices, primarily located in or near socioeconomically disadvantaged neighborhoods. 44.3% of the respondents were of non-Western ethnic origin and 64.4% were religious. Results: Most respondents (77.2%) found the decision to decline NIPT easy to make, and 59.8% had already made the decision before information about NIPT was offered. These respondents were more often religious, multigravida, and had adequate health literacy. The main reasons to decline NIPT were “I would never terminate my pregnancy” (57.1%) and “every child is welcome” (56.2%). For 16.9% of respondents, the out-of-pocket costs (175 euros) played a role in the decision, and the women in this group were more often nonreligious, primigravida, and had inadequate health literacy. Conclusion: The primary factors involved in the decision to decline NIPT were related to personal values and beliefs, consistent with autonomous choice. Out-of-pocket costs of NIPT hinder equal access for some pregnant women

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

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