Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations

Ileen Slegers; Kathelijn Keymolen; Kim Van Berkel; Boyan Dimitrov; Sonia Van Dooren; Rani Cooreman; Frederik Hes; Maaike Fobelets

doi:10.1038/s41431-023-01375-z

Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations

Eur J Hum Genet. 2023 May 12. doi: 10.1038/s41431-023-01375-z. Online ahead of print.

Authors

Ileen Slegers¹, Kathelijn Keymolen², Kim Van Berkel², Boyan Dimitrov², Sonia Van Dooren³, Rani Cooreman², Frederik Hes², Maaike Fobelets⁴

Affiliations

¹ Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium. Ileen.Slegers@uzbrussel.be.
² Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Brussels, Belgium.
³ Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Reproduction and Genetics, Brussels Interuniversity Genomics High Throughput Core (BRIGHTcore), Brussels, Belgium.
⁴ Department of Public Health Sciences, Biostatistics and Medical Informatics (BISI) Research Group, Vrije Universiteit Brussel, Brussels, Belgium and Department of Teacher Education, Vrije Universiteit Brussel, Brussels, Belgium.

PMID: 37173410
DOI: 10.1038/s41431-023-01375-z

Abstract

Rapid advances in genetic testing have improved the probability of successful genetic diagnosis. For couples who undergo a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques may reveal the underlying cause and satisfy parents' need to know. The aim of this qualitative descriptive research study was to explore couples' experience of being recontacted after a congenital malformation-related TOP, as well as their reasons for participation. A retrospective cohort of 31 eligible candidates was recontacted for additional genetic testing using a standardized letter followed by a telephone call. Fourteen participants (45%) were included. Data were collected through semi-structured interviews at a hospital genetics department (UZ Brussel). Interviews were audiotaped, transcribed and analysed using thematic analysis. We found that despite the sometimes considerable length of time that passed since TOP, participants were still interested in new genetic testing. They appreciated that the initiative originated from the medical team, describing it as a "sensitive" approach. Both intrinsic (providing answers for themselves and their children) and extrinsic motivators (contributing to science and helping other parents) were identified as important factors for participation. These results show that participants often remain interested in being recontacted for new genetic testing such as whole genome sequencing, even after several years. As such, the results of this study can offer guidance in the more general current debate on recontacting patients in the field of genetics.