ESPE Abstracts

Background and study setting: Turner syndrome (TS) is characterized by either a complete or partial loss of one X-chromosome, resulting in the 45,X karyotype or variants hereof. In Denmark, around 42% of TS foetuses are prenatally detected, most commonly during the first trimester screening, which is offered to all women as part of the free prenatal care. Of these, 69% are terminated. Prior studies have identified several factors influencing parental decision to either terminate or continue the pregnancy upon receiv¬ing a prenatal TS diagnosis including karyotype (mosaic/non-mosaic), foetal anomalies, gestational age at diagnosis, pro¬vision of nuanced counselling, socioeconomic status, and ethnicity. However, only very few qualitative studies have investigated parents’ experiences of the diagnostic process from receiving the diagnosis, going through a counselling process, and making a decision regarding termination or continuation of pregnancy. Such knowledge is essential to providing appropriate and patient-centered care to expectant parents in a complex situation.

Objectives and Methods: In this study, we interview 15 women or couples who received a prenatal diagnosis of TS and decided to continue the pregnancy and now have a child with TS, with the aim to investigate:
1. How they experienced and managed the diagnostic process from initial suspicion to final diagnosis, including their experiences of the counselling process at the departments of obstetrics and clinical genetics.
2. What shaped their decision to continue the pregnancy.
3. How the TS diagnosis influenced their experience of the remaining pregnancy. Qualitative interviews are conducted based on a semi-structured interview guide developed from current literature, expert knowledge, and input from patient representatives. All interviews are recorded, transcribed verbatim, and analysed using thematic analysis, in which patterns across different interviews are identified. The interviews will be conducted during fall 2024. Results will be presented at the 62^nd Annual ESPE Meeting.

Perspectives: By gaining a deeper and more nuanced knowledge of prospective parents’ experiences of going through prenatal genetic diagnostics and being confronted with the difficult decision to either terminate or continue the pregnancy, we can strengthen the future obstetric and genetic counselling to ensure pregnant women and their partners feel supported in making their right decision.