ESPRIT study: Widening scope of prenatal screening by non-invasive prenatal testing (NIPT) (WC2012-045)

Background

Starting date: 01/01/2013

The scope of first trimester prenatal screening will widen through rapid developments in non-invasive prenatal testing (NIPT), moving from bench to clinic and to population screening. In NIPT circulating fragments of fetal DNA/RNA in maternal plasma, obtained by a simple maternal blood sample, can (potentially) be analyzed to detect different types of disorders in the unborn child. When implementing new tests, it is important to understand the public’s and health professionals’ perspective, and to address possible misconceptions and ethical concerns.

NIPT in the Netherlands
In the Netherlands NIPT is currently only available within the TRIDENT studies. Since April 2014, NIPT is available within the TRIDENT-1 study for women at high risk for fetal aneuploidy such as Down syndrome. Since April 2017, NIPT is available as a first trimester screening test for all pregnant women in TRIDENT-2. It is very likely that NIPT will lead to major changes in the landscape of prenatal testing, not only for common aneuploidies but in the long run also for other (non-)treatable conditions and for feto-maternal risk factors. Therefore, counseling and informed consent in the field of prenatal screening are about to be challenged.

Aim of the study
This study, called the ESPRIT-study (Ethical Social Psychological Research for Implementing Screening for fetal Trisomies)  focused on identifying the attitudes of pregnant women and their partners towards NIPT and their needs for informed decision making. Moreover, the attitudes of health care professionals and other stakeholders, including parents of children with Down syndrome, have been explored, identifying potential barriers and ethical dilemmas that might  be encountered during the implementation of NIPT. The research questions in this project have been addressed using qualitative (focus groups, interviews) and quantitative research methods (questionnaire study). Moreover a stakeholder meeting has been organised in 2014 to assess different perspectives on the implementation of NIPT (see Report). 

Findings
Our results show that NIPT for fetal aneuploidy is generally seen as a positive development by the different stakeholders, however also ethical concerns were raised. As screening for more disorders is increasingly possible with NIPT, it is crucial to find an approach that facilitates rather than undermines well-informed decision-making. Results of the study have been published (see Publications) and more on this project can be read on the website of ZonMW [in Dutch]

On 7 December 2016 Rachèl van Schendel defended her thesis at the VU University Implementing Non-Invasive Prenatal Testing (NIPT): Perspectives of patients and professionals. This was preceded by a mini-symposium, see website.

Financial support
The ESPRIT-study was financed by ZonMw Dec 2012- Dec 2014 (Zwangerschap & Geboorte) and was one of the projects within the Regional Netwerk Geboortezorg Noordwest Nederland. The sociotechnical analysis in this study was co-financed by the CSG Centre for Society and the Life Sciences (Netherlands Genomics Initiative, NGI). The ESPRIT study has been initiated by members of the Dutch NIPT-consortium.