Australian patients' experiences of undergoing whole exome sequencing for fetal structural anomalies prior to receiving results

While whole exome sequencing (WES) in pregnancy for fetal structural anomalies (FSA) has become increasingly feasible in Australia, parents' experiences of undergoing WES for FSA are poorly understood. This study explored the experiences of participants undergoing prenatal WES for FSA in Australia. Forty expectant parents from 28 parent-fetus trios were interviewed prior to receiving WES results, and interviews were analyzed using inductive content analysis. Participants consistently expressed a desire for as much information as possible about their unborn child (n = 17), describing this as a "quest for knowledge." The waiting period for results was identified as an especially difficult and emotionally taxing aspect of WES during pregnancy (n = 12). Overall, participants reported mostly positive experiences with healthcare professionals, noting the importance of compassionate and supportive care (n = 21). Many couples also considered termination of pregnancy as a possible outcome if a diagnosis was confirmed through WES (n = 13). These findings suggest that a nuanced understanding of participants' experiences can help guide clinical practice. Improvements may be achieved by expediting testing processes, ensuring supportive and compassionate healthcare interactions, and facilitating sensitive discussions regarding termination of pregnancy if families feel ready to engage with this potential option. The future of genomic sequencing in pregnancy will rely on providing supported access to clinical testing and ensuring laboratories deliver fast, accurate results during this critical period for prospective parents.