Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly

Abstract

Parents desired as much information as possible and appreciated information being repeated and provided in various formats. Many struggled with clinical uncertainty relating to the cause and prognosis following a fetal anomaly diagnosis and found it difficult to balance the risks of invasive testing against their need for more definitive information. Parents trusted their clinicians and valued their support with decisions in pregnancy. Testing was sometimes pursued to reassure parents that their baby was "normal" rather than to confirm an underlying genetic problem. Parents were motivated to undergo WES for personal and altruistic reasons but disliked waiting times for results and were uncertain about what findings might be returned.

Health professionals' and researchers' perspectives on prenatal whole genome and exome sequencing: 'We can't shut the door now, the genie's out, we need to refine it'

“…The health professionals described that parents ‘want a good thing to come out of a bad situation’ (MW4) and ‘be able to contribute in some way to the development of knowledge’ (MW3). The desire for more information which the professionals we interviewed reported as the main drive for parents’ participation in PAGE, was confirmed also by a study exploring the experiences of parents who took part in the PAGE project [ 20 ].…”

“…A study exploring parents’ experiences within PAGE [ 20 ] confirmed that the long turnaround time in the study was difficult for some of the parents recruited.…”

Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting

“…In a qualitative study assessing parental experiences following whole exome sequencing for fetal abnormalities, parents expressed already feeling fear and anxiety over the uncertainty and prognosis following the detection of an ultrasound anomaly and pursued exome sequencing due to a desire for information. Participants had exome sequencing under the PAGE research study in the UK, which only disclosed pathogenic variants (Quinlan-Jones et al 2017). Thus, no studies have specifically examined counseling for VUS results returned from clinical reports.…”

Ethical and counseling challenges in prenatal exome sequencing

“…Further, even in the context of ostensibly valid consent, data suggest that women may not appreciate in advance the effect that uncertain results have on their well‐being, sense of identity, or relationship to their pregnancy and/or child . In a qualitative study, prospective parents indicated that having clear information about expected results from prenatal WES is extremely important …”

“…20 In a qualitative study, prospective parents indicated that having clear information about expected results from prenatal WES is extremely important. 21 Some have argued that advance discussions about the potential for results to introduce "pivotal decisions about ending or continuing their pregnancy" are an "ethical responsibility." 19 Such discussions may need to take into account concerns of disability rights advocates that "prenatal tests to select against disabling traits express a harmful attitude about and send a hurtful message to people who live with these traits."…”