Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for congenital malformations

Abstract

Abstract Rapid advances in genetic testing techniques increase the possibility of finding a genetic diagnosis. In the case of couples who underwent a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques might reveal the cause and meet the parent's need to know. The aim of this qualitative study is to explore the experiences of couples with being recontacted after TOP for congenital malformations, as well as the reasons for participating. A retrospective cohort of 31 couples was recontacted for additional genetic testing by sending a standardized letter followed by a telephone call. Fourteen couples (45%) agreed to participate. Data were collected through semi-structured interviews at the genetics department of the hospital (UZ Brussel). Interviews were audiotaped, transcribed and analysed using thematic analysis. We found that, despite the years that passed since the TOP, participants were still interested to perform novel genetic testing. They appreciated that the initiative for recontacting came from the medical team and described it as a sensitive approach. Both intrinsic (searching for answers for themselves and their children) and extrinsic motivators (contributing to science and helping other parents) were identified as important drivers of participation. These results show that, even after several years, many couples are still interested and motivated to be recontacted for further genetic testing. The results of this study can offer guidance in current debate on recontacting patients in the field of genetics.