Searching for closure in prenatal diagnosis: Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for fetal malformations

Background/Objectives: Genome-wide analysis approaches have recently been introduced in clinical genetics because of a potential increased diagnostic yield. In case of couples who had a termination of pregnancy (TOP), these techniques might meet the parent's need to know. The aim of this qualitative study is to explore experiences of being recontacted for additional diagnostic testing. In addition, why are these couples still opting for genetic testing several years after the termination?. Methods: This study included parents of a retrospective cohort of 85 foetuses that underwent a TOP for congenital malformations between January 2015 and December 2018 in UZ Brussel. After selection, 31 participants were eligible for recontacting, given that a clinical diagnosis is suspected though a molecular diagnosis remains unclear. After receiving a standardized letter, 14 couples agreed to come to the Genetics department to participate. All interviews were transcribed verbatim, anonymized and coded by thematic analysis of Braun & Clarke (2006). Results: Despite the years passed since the TOP, these participants were still motivated to perform new genetic testing. Both intrinsic (searching for answers for themselves and their children) and external motivators (contributing to science and helping parents) played an important role as a driver. All participants were pleased that the medical team took initiative with this sensitive approach, since they would not have taken the initiative themselves. Conclusion: These results showed an interest in being recontacted which has important implications for clinical practice.