Patient Perception of Negative Noninvasive Prenatal Testing Results

Abstract

Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed. Methods and Materials We conducted a prospective cohort study to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT result. Ninety-four participants who had prenatal genetic counseling and a subsequent negative NIPT were surveyed. Results There was a significant decline in general level of worry after a negative NIPT result (p = <0.0001). The majority of participants (61%) understood the residual risk post NIPT. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 (p = 0.012) and sex chromosome abnormality (p = 0.039), and were more likely to understand which conditions NIPT tests for (p = 0.021), compared to those women with less formal education. Conclusion These data demonstrate that despite the relatively recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after receiving genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding.

“Who Doesn’t Like Receiving Good News?” Perspectives of Individuals Who Received Genomic Screening Results by Mail

“…Some participants felt that their risk of disease had lowered, while others concluded that a familial disease must not be genetic in origin [ 26 ]. These findings are consistent with misunderstandings reported in other screening contexts, such as cancer screening [ 28 ] and non-invasive prenatal testing [ 29 , 30 ].…”

Women's Experience with Non‐Invasive Prenatal Testing and Emotional Well‐being and Satisfaction after Test‐Results

“…Moreover, one third of the women mentioned that NIPT did not give them sufficient certainty whether their child has a disorder, possibly indicating that they realize that NIPT cannot exclude all disorders in their child. A study by Wittman et al (2016) however, showed that a normal NIPT result gave many women a false decrease in worry levels for conditions not screened for by NIPT. It demonstrates the importance to counsel women about the scope and limitations of NIPT, so they know how to accurately interpret the result.…”

“…Studies amongst high-risk women undergoing confirmative invasive testing showed that their high levels of anxiety faded away after obtaining a normal result (Lou et al 2015). With regard to NIPT the literature shows mixed results, with some studies (Vanstone et al 2015; Wittman et al 2016) finding a negative (favorable) NIPT result is perceived as being reassuring, but others, although hypothetically addressed (Allyse et al 2014), have shown women still want further reassurance through invasive testing. As part of an implementation study on NIPT in the UK National Health Service, Lewis et al (2016) showed a reduction in elevated anxiety levels from 30% to 14% after NIPT results (most of them being negative) had been received.…”

Women’s experiences of counselling in cases of a screen-positive prenatal screening result

“…Still, it can be used to screen only the most common chromosomal abnormalities and by itself, is not a diagnostic method. Positive results must be confirmed via invasive methods before deciding about TOP [ 35 , 36 ]. However, NIPT lessens the probability of losing a healthy fetus due to screenings and may be ethically a more appropriate method.…”