Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study

Journal of Community Genetics https://doi.org/10.1007/s12687-024-00746-3 RESEARCH Factors influencing pregnant women’s decision to accept or decline prenatal screening and diagnosis – a qualitative study Ellen Ternby1 · Ove Axelsson1,2 · Charlotta Ingvoldstad Malmgren3,4,5 · Susanne Georgsson6 Received: 18 August 2024 / Accepted: 21 October 2024 © The Author(s) 2024 Abstract Background and Objective: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnosis. The aim of this study was to explore what factors influence pregnant women’s decision-making process when accepting or declining prenatal screening and diagnosis. Methods: A qualitative study using inductive qualitative content analysis. Individual, semi-structured phone interviews were carried out during a five-month period in 2016–2017 with 24 pregnant women in the first trimester, living in a medium-sized Swedish city. Findings: Two main themes emerged: (1)“Individual factors The women’s experiences, perceptions and values” with three categories “Attitude towards anomalies”, “Worry and need for reassurance”, “Self-perceived risk” and (2)“External factors - The women’s perception of the test and others’ views” with two categories “Test characteristics” and “Influence from others”. Conclusions: Pregnant women’s decision-making process regarding prenatal tests is multidimensional, affected by both individual factors such as experiences, perceptions and values, and external factors such as test characteristics and influence from others. Information about both test characteristics and the conditions tested is of help pregnant women in the decision-making process since it provides a better understanding of how having a child with the condition in question can affect them and their family. It is important that healthcare professionals giving information about and offering prenatal tests for chromosomal anomalies are aware of how their attitudes can influence women’s decisions. Keywords Information · Informed choice · Genetic counseling · Decision making · Prenatal diagnosis · Chromosome aberrations Ellen Ternby 1 Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden 2 Centre for Clinical Research Sörmland, Uppsala University, Eskilstuna, Sweden 3 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden 4 Centre for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden 5 Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden 6 The Swedish Red Cross University, Stockholm, Sweden Abbreviations PND Prenatal diagnosis (including both screening tests and diagnostic tests) CUB test Combined ultrasound and biochemistry test NIPT Non-Invasive prenatal testing CA Chromosomal anomaly TOP Termination of pregnancy Introduction Approximately 70% of pregnant women in Sweden undergo prenatal screening for chromosomal anomalies (CA) with a combined ultrasound and biochemistry test (CUB test) (Skogsdal et al. 2022). The screening is offered as part of the public antenatal care, but how it is offered varies between regions (The National Board of Health and Welfare (Socialstyrelsen) 2022). If a CUB test indicates a high probability 13 Journal of Community Genetics of a CA, Non-Invasive Prenatal Testing (NIPT) or an invasive test are offered as a second-tier test. According to a recent review of quantitative research (Di Mattei et al. 2021) there seems to be different aspects affecting pregnant women’s decisions regarding prenatal screening and diagnosis (PND). They describe an individual level including demographic, psychological and clinical aspects; a relational level affected by family and society; and a contextual level including test characteristics and received information. A previous review, including both quantitative and qualitative studies, has shown similar findings, where test characteristics as well as individual factors such as age, anxiety, personal or professional experience of and attitude towards disability and termination of pregnancy (TOP) were factors affecting the decision-making process (Crombag et al. 2013). From research in Sweden and Denmark, it is known that common reasons for undergoing PND are age, the wish to gain as much information as possible about the fetus, worry and the wish for reassurance of a healthy fetus (Miltoft et al. 2018; Sahlin et al. 2016; Ternby et al. 2015, 2016). Common reasons for abstaining from PND were the risk of miscarriage if having an invasive test and not seeing TOP as an option (Ternby et al. 2016). Another aspect known to influence women’s decisions is their partners, since many (but not all) parents-to-be, strive for a joint decision-making (Damman et al. 2023; Laberge et al. 2019; Miltoft et al. 2018; Sahlin et al. 2016). Most studies have focused on a few, but not all the mentioned aspects in one study, which may not provide a complete overall picture. Our qualitative approach can provide a broader picture and a deeper understanding of the different factors that influence the decision-making, and how they interplay, filling in this gap in the literature. Previous research has indicated that the information given to pregnant women about PND and conditions screened for, is not always sufficient (Nykänen et al. 2017; Ternby et al. 2015, 2016) and that women do not always have sufficient knowledge or make informed decisions (Lewis et al. 2017; McCoyd 2013; van der Meij et al. 2022; Schoonen et al. 2012). Better knowledge concerning PND among pregnant women seem to result in higher levels of wellbeing and less anxiety, as well as less decisional conflict and regret (Dahl et al. 2011; Lo et al. 2019). In addition, women satisfied with their received counselling tend to experience less decisional conflict and less subsequent decisional regret (Hartwig et al. 2019). Thus, there is a need for better counselling and improved information prior to the offer of PND. The aim of the present study is to examine what factors influence women´s decisions to undergo or decline PND. Such knowledge can guide healthcare professionals as to what information should be included in counselling. 13 Methods Study design A qualitative design was chosen to explore subjective views and experiences and thus give a deeper understanding of this complex subject, which is more difficult to attain through a quantitative study design. Semi-structured, individual telephone interviews were conducted with pregnant women and data was analysed with inductive content analysis (Graneheim et al. 2017; Graneheim and Lundman 2004). The COREQ checklist was used as guidance (Tong et al. 2007). Recruitment and participants Almost all pregnant women in Sweden attend publicly funded antenatal care, with regular check-ups with a midwife during pregnancy. Pregnant women (...truncated)