Navigating the unknown. Parental reflections 4-10 years after receiving a prenatal variant of unknown significance.

<p dir="ltr"><b>Abstract</b><b> </b><b> </b></p><p dir="ltr"><b>Background</b>: Many pregnant women face genomic uncertainty for their unborn child after receiving a variant of unknown significance (VUS) result on prenatal diagnostic testing. However, there is limited long-term data about their subsequent reflections on this prenatal information. This study aimed to explore the reflections of parents on: i) receiving a prenatal VUS result; and ii) navigating the result 4-10 years later where the VUS has been reclassified as ‘non-reportable’. </p><p dir="ltr"><b>Materials and Methods:</b> Purposive sampling was used to retrospectively recruit parents from an existing prenatal microarray follow-up cohort, selecting participants that had a prenatal VUS result that was subsequently reclassified as “non reportable” after their child’s birth. Semi-structured interviews were conducted, audio-recorded, transcribed verbatim, anonymised, and co-coded via inductive thematic analysis.  </p><p dir="ltr"><b>Results:</b> Interviews with seven parents revealed the complexity of parental experiences after receiving prenatal VUS results and navigating the utility of the result 4-10 years later. Uncertainty was the most difficult aspect for participants following VUS disclosure. Participants adopted reactive mindsets, addressing potential developmental concerns in their children only if they arose. Majority of participants did not recall being informed about reclassification, and those who did, most reported no memorable impact of the reclassification.   </p><p dir="ltr"><b>Conclusions:</b> This study contributes to the current understanding of prenatal VUS results and parental experiences of their reclassification. This could help to shape prenatal genetic counselling practice and VUS reclassification protocols. </p>