Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age

Abstract

Objective: To determine how adults in the United States view non-invasive prenatal testing using cell-free fetal DNA (cffDNA testing) in order to help estimate uptake.

Study design: A national sample of 1861 US-based adults was surveyed using a validated online survey instrument. The survey was administered by a commercial survey research company. Respondents were randomized to receive a survey about prenatal testing for trisomy 13 and 18 or trisomy 21. Participants were asked to select among testing modalities, including cffDNA testing, and rank the features of testing that they considered most important to decision making.

Result: There was substantive interest in the use of cffDNA testing rather than traditional screening mechanisms, with a minority of respondents reporting that they would support the use of both methods in combination. The lower rates of false-negative and false-positive test results and the ability to use the test earlier in the pregnancy were the most highly rated benefits of cffDNA testing. Participants expressed strong support for diagnostic confirmation via invasive testing after a positive result from either screening or cffDNA testing. However, almost one-third of participants reported that they would not endorse the use of either invasive or non-invasive prenatal testing.

Conclusion: There appears to be support for uptake of non-invasive prenatal tests. Clinical guidelines should therefore go forward in providing guidance on how to integrate non-invasive methods into the current standard of care. However, our findings indicate that even when accuracy, which is rated by patients as the most important aspect of prenatal testing, is significantly improved over existing screening methods and testing is offered non-invasively, the number of individuals who reported that they would decline any testing remained the same. Attention should therefore be directed at ensuring that the right of informed refusal of prenatal testing is not impacted by new, non-invasive methods.

Figure 1

Preferences between non-invasive testing methods.

Figure 2

Factors influencing support for testing choices among non-invasive methodologies. No statistical difference between priorities for trisomy 13 and 18 and trisomy 21 were observed.

Figure 3

Preferences for invasive follow-up testing following a negative or positive test result.

Figure 4

Factors influencing support for undergoing invasive confirmatory testing. No statistical difference between priorities for trisomy 13 and 18 and trisomy 21 were observed.

Figure 5

Expressed willingness to consider termination after an invasive diagnosis. Statistically significant difference between conditions. P <0.001, CI = 95%.