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Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study

European Journal of Human Genetics volume 32, pages 302–308 (2024)Cite this article

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Abstract

In the Netherlands, genome-wide non-invasive prenatal testing (NIPT) is offered to all pregnant women as part of the nationwide TRIDENT-2 study. Findings other than trisomy 21, 18, or 13, which are called “additional findings”, are reported only on request of the pregnant woman. This study examined: (1) women’s pre-test perceptions and reasons to opt for additional findings and (2) women’s experiences with- and the psychological impact of being informed about an additional finding. A questionnaire, consisting of the anxiety measure State-Trait Anxiety Inventory (STAI), distress measure Impact of Event Scale (IES) and questions developed specifically for this study, was retrospectively administered to 402 women who received an additional finding. A total of 227 (56.5%) women completed the questionnaire. Most (60.2%) chose to know additional findings because they wanted as much information as possible about the health of their fetus. Almost all (92%) stated that receiving the additional finding was unexpected, a shock, and/or they were in disbelief, for 85% it caused a lot of worry. Post-test, high anxiety (STAI) levels were reported in 15.5% of women, and 7.5% reported severe distress (IES). Women who gave birth to an affected child (n = 10) experienced most psychological impact (STAI and IES). Eighty-six percent of women with a fetal aberration would opt for additional findings again, compared to 49.2% of women whose result was confined to the placenta. Pre-test counseling should focus on explaining the different results NIPT can generate. Post-test counseling should focus on guiding pregnant women through this uncertain and anxious time.

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Fig. 1: Overview of the different NIPT results after confirmation by follow-up testing or confirmation after birth.

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Data availability

The datasets generated and analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors would like to thank all participating women for completing the questionnaire. This study was made possible using data from Peridos, the Dutch national digital registration system for prenatal screening. The authors would like to thank all members of the NIPT consortium.

Funding

This work was partly supported by a grant from the Netherlands Organization for Health Research and Development (ZonMw, No. 543002001).

Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands

    Iris M. Bakkeren & Robert-Jan H. Galjaard

  2. Department of Human Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

    Lidewij Henneman

  3. VSOP - Patient Alliance for Rare and Genetic Diseases, Soest, the Netherlands

    Elsbeth H. van Vliet-Lachotzki

  4. Department of Midwifery Science, AVAG, Amsterdam Public Health research institute, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands

    Linda Martin & Janneke T. Gitsels-van der Wal

  5. Department of Psychology, Education & Child Studies (DPECS), Erasmus University Rotterdam, Rotterdam, the Netherlands

    Marike G. Polak

  6. Department of Obstetrics and Gynecology, Utrecht University Medical Center, Utrecht, the Netherlands

    Mireille N. Bekker

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  1. Iris M. Bakkeren
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Contributions

The authors confirm contribution to the paper as follows: Study conception and design: IMB, LH, EHv, MNB & RJHG. Data collection: IMB. Analysis and interpretation of results: IMB, MGP, LH, MNB & RJHG. Draft manuscript preparation: IMB & RJHG. Revised manuscript: LH, EHv, LM, JTG, MGP, MNB & RJHG. All authors reviewed the results and approved the final version of the manuscript.

Corresponding authors

Correspondence to Iris M. Bakkeren or Robert-Jan H. Galjaard.

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The authors declare no competing interests.

Ethical approval

The research ethics review committee of Erasmus MC, University Medical Center Rotterdam exempted this questionnaire study (MEC-2018-1685). All participants signed informed consent.

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Bakkeren, I.M., Henneman, L., van Vliet-Lachotzki, E.H. et al. Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study. Eur J Hum Genet 32, 302–308 (2024). https://doi.org/10.1038/s41431-023-01504-8

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