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. 2025 Feb;34(1):e1921.
doi: 10.1002/jgc4.1921. Epub 2024 May 23.

Non-invasive prenatal screening: Testing motivations and decision making in the low-risk population

Jenna K Lea  1   2 , Blair K Stevens  1   3 , Shannon Mulligan  1   3 , Syed S Hashmi  1   4 , Rebecca Lunstroth  5 , Meagan G Choates  1   3
Affiliations

Non-invasive prenatal screening: Testing motivations and decision making in the low-risk population

Jenna K Lea et al. J Genet Couns. 2025 Feb.

Abstract

Non-invasive prenatal screening provides a risk assessment for aneuploidies by utilizing cell-free DNA (cfDNA). It is recommended that cell-free DNA screening (cfDNA screening) be offered to all pregnant people regardless of a priori risk for aneuploidy. In the absence of an increased risk, alternative motives for electing cfDNA screening and different levels of informed decision making may arise. Therefore, our study aimed to characterize low-risk patients' motivations for cfDNA screening election, determine how often informed decisions are being made, and compare motivations between informed and uninformed decision makers. A survey that included a modified, validated measure of informed choice (MMIC) and questions to assess patients' motivations for cfDNA screening was offered at four MFM clinics following genetic counseling. It was found that 44% of participants (n = 100) made an uninformed decision about testing. Participants with private insurers were 4.25 times more likely to make an informed decision (95% CI = 1.10-16.37). Informed decision makers scored avoiding invasive procedures higher (p = 0.007) and ranked doing what family/friends desire lower (p = 0.005) than uninformed decision makers. While most participants scored receiving information about genetic conditions highest, 12% of participants reported fetal sex disclosure as a priority. However, this was not found to be associated with uninformed decision making. This study ultimately established that following genetic counseling, a low-risk population shared motivations with high-risk populations which highlights the importance of complete pre-test counseling for all. Future research should investigate the effect of modifying variables, such as socioeconomic status, on the performance of informed choice measures and critically evaluate the parameters that determine informed choice.

Keywords: aneuploidy screening; cell‐free DNA screening (cfDNA screening); decision making; low‐risk; non‐invasive prenatal screening; prenatal.

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References

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