Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Abstract

Background: Adding rapid exome sequencing (rES) to conventional genetic tests improves the diagnostic yield of pregnancies showing ultrasound abnormalities but also carries a higher chance of unsolicited findings. We evaluated how rES, including pre-and post-test counseling, was experienced by parents investigating its impact on decision-making and experienced levels of anxiety.Methods: A mixed-methods approach was adopted. Participating couples (n = 46) were asked to fill in two surveys (pre-test and post-test counseling) and 11 couples were approached for an additional interview.Results: All couples accepted the rES test-offer with the most important reason for testing emphasizing their hope of finding an underlying diagnosis that would aid decision-making. The actual impact on decision-making was low, however, since most parents decided to terminate the pregnancy based on the major and multiple fetal ultrasound anomalies and did not wait for their rES results. Anxiety was elevated for most participants and decreased over time. Conclusion:Major congenital anomalies detected on ultrasound seem to have more impact on prenatal parental decision-making and anxiety then the offer and results of rES. However, the impact of rES on reproductive decision-making and experienced anxiety requires further investigation, especially in pregnancies where less (severe) fetal anomalies are detected on ultrasound. Key pointsWhat is already known about this topic? � Adding exome sequencing to conventional prenatal genetic tests improves the diagnostic yield.� Prenatal rapid exome sequencing (rES) with a 2-week turnaround time is feasible.

Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

“…P6, mother with diagnostic finding from pES (ToP before result) participants saw clear benefits of pES providing a genetic diagnosis for more pregnancies with fetal anomalies, and many articulated associated positive clinical impacts (Table 1) similar to those described in clinical utility studies. 1,2,[7][8][9]25,27 Our findings mirror previously reported psychosocial benefits for parents, including being informed and prepared, 19 feelings of relief from a negative result, 14,15 and gaining 'closure' from a diagnosis. 15,19 As noted in a recent study by Plantinga et al, we found that parents may opt to end a pregnancy without waiting for pES results but still valued a diagnosis for reinforcing the decision that was made.…”

“…Our study differs from many others [15][16][17][18][19][20][21][22][23] in that parents received results rapidly and so these could inform current pregnancy management as well as future reproductive choices. As with other studies, 14,15,[17][18][19][21][22][23] all…”

“…15,19 As noted in a recent study by Plantinga et al, we found that parents may opt to end a pregnancy without waiting for pES results but still valued a diagnosis for reinforcing the decision that was made. 14 We observed that pES may have unintended negative impacts on parents, for example, prolonging anxiety while awaiting results and, like others, found that both diagnostic and negative results can be distressing for parents. [14][15][16]19 This was highlighted by parents and HPs as a reason why post-test support is crucial regardless of the pES result.…”

“…A growing body of literature has investigated parent [14][15][16][17][18][19] and HP [20][21][22][23] views and attitudes towards pES, which may guide implementation. However, few have explored direct experiences of pES in clinical practice, where results are returned during an ongoing pregnancy.…”

“…However, few have explored direct experiences of pES in clinical practice, where results are returned during an ongoing pregnancy. 14 Here we aimed to (1) identify perceived benefits of pES and anticipated challenges for its clinical implementation, (2) better understand the support and information needs of parents, and (3) consider the educational and training needs of HPs, by exploring stakeholder attitudes in a setting where results were returned in a timeframe to influence pregnancy management.…”