Objective: The purpose of the study is to explore and illustrate how ultrasound midwives and medical specialist in obstetrics and gynecology believe the information given to parents about the genetic soft markers should be handled. Design: A quantitative questionnaire study with cross-sectional design. Participants: 44 ultrasound midwives and 37 medical specialists in obstetrics and gynecology. Findings: Most of the participants would like to inform before the ultrasound starts that they will be looking for genetic softmarkers during the ultrasound. Likewise the majority wanted to inform the parents about possible increases in the risk for chromosomal abnormalities based on findings on the routine ultrasound. There was a difference in frequency between those who responded that they would like to inform before the ultrasound that they will be looking for genetic softmarkers and those who responded that they believe the future parents wants information before the examination. Key conclusions: It could help health care professionals in their role as information providers if there were common recommendations for the information to be given to future parents about genetic softmarkers in connection with the routine ultrasound. / Syfte: Syftet med studien är att undersöka och belysa hur ultraljudbarnmorskor och specialistläkare inom obstetrik och gynekologi anser att informationen som ges till blivande föräldrar kring genetiska ultraljudsmarkörer bör hanteras. Design: En kvantitativ enkätstudie med tvärsnittsdesign. Deltagare: 44 ultraljudsbarnmorskor och 37 specialistläkare inom obstetrik och gynekologi. Resultat: Merparten av deltagarna vill informera innan ultraljudundersökningen börjar om att de kommer att titta efter genetiska ultraljudmarkörer under rutinultraljudet. Likaså ville majoriteten informera de blivande föräldrarna om eventuella riskökningar för kromosomavvikelser utifrån upptäckter på rutinultraljudet. Det fanns en skillnad i frekvens mellan de som svarat att de ville informera innan ultraljudsundersökningen om att de kommer att titta efter genetiska ultraljudsmarkörer och de som svarat att de tror att de blivande föräldrarna vill ha denna information innan undersökningen. Slutsats: Det skulle kunna hjälpa hälso-och sjukvårdspersonal i sin uppgift som informationsgivare om det fanns genomsamma rekommendationer för vilken information som skall ges till blivande föräldrar kring genetiska ultraljudsmarkörer i samband med rutinultraljudet. På det sättet skulle vi erbjuda en mer jämställd information och vård till hela befolkningen oberoende av var de bor.

This thesis focuses on expectant parents’ experiences and needs when soft makers are detected at mid-trimester ultrasound, resulting in an unexpected assessment of risk for fetal anomalies. The thesis also describes the prevalence of ultrasonographic fetal soft markers and the incidence of Down syndrome in a low-risk population of 10,535 pregnant women with a total of 10,710 fetuses, as well as the risk of invasive prenatal diagnostics in conjunction with the detection of soft markers. Finally, the thesis aims to explore the value of a web-based patient decision aid (DA) in facilitating informed decision making regarding routine fetal screening for anomalies and the fathers’ role in decision making regarding prenatal screening. A prospective observational study was conducted between 2008–2011 to investigate the prevalence of ultrasonographic fetal soft markers at second trimester screening. During this time period, 12 women and 17 men were interviewed about their experience when soft markers were detected. Based on the results of these interviews, a web-based decision aid (DA) to enhance expectant parents’ decision-making concerning fetal screening was developed and a trial initiated to test its utility. Interviews were conducted with 17 women who received access to the DA, 11 who had chosen to use the DA and six who had not used it. All interview studies were analysed using systematic text condensation (STC) developed by Malterud. Soft markers were detected in 5.9% of the fetuses at mid-trimester ultrasound, whereof 5.1% were isolated. All soft markers showed a positive likelihood ratio (LR+) for DS; however, the association was only statistically significant for the collapsed category ‘any marker’ (isolated, multiple or combined with anomaly), not for isolated markers. An almost 24-fold increase of invasive diagnostic testing was shown in all women, including those with a low estimated risk for aneuploidy, i.e. < 1/200 (paper III). The results from interviews showed that the finding of soft markers created much anxiety and indicated that both women and men lacked awareness of the potential of the ultrasound examination (papers I and II). The results also showed that the men were actively engaged in decision making not only by supporting their partners, but also considered their own values and needs regarding these issues (paper II). It was also evident that women wanted their partners to be engaged in decisions regarding fetal diagnostics (papers I and IV). The web-based patient DA was able to initiate a process of conscious decision making in pregnant women, as a result of their interaction with the tool. The DA allowed for clarification of women’s thoughts and priorities and helped them to understand the significance of the screening result and providing a basis for making informed decisions regarding fetal screening (paper IV).

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