Pregnancy experiences of expectant parents with Neurofibromatosis type 1: A qualitative interview study

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Smith, Ming Wai Wan, Hannah Slevin, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7041890/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 22 Apr, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted 10 You are reading this latest preprint version Abstract Pregnancy in the context of Neurofibromatosis type 1 (NF1) may be emotionally complex due to uncertainties surrounding inheritance and the condition’s variable presentation. This study aimed to explore how expectant parents with NF1 experience pregnancy and relate to their unborn child. Fourteen participants took part in individual semi-structured interviews, and data were analysed using reflexive thematic analysis. Participants described how decisions around conception and genetic testing were influenced by personal and medical history, perceived severity of NF1, and concerns about potential impact on their child. Participants described how ongoing uncertainty contributed to feelings of anxiety, guilt, and emotional restraint, which they managed through internal strategies such as seeking reassurance, information, and acceptance, as well as through external support networks. Notably, internal representations of the unborn child were often shaped by emotional ambivalence and protective distancing. In a condition like NF1, where uncertainty may complicate prenatal bonding, adapting psychological interventions that have been used antenatally to promote early bonding and support later parenting outcomes could help strengthen emotional wellbeing and the developing parent-infant relationship. Health sciences/Health care/Quality of life Scientific community and society/Social sciences/Psychology/Human behaviour Health sciences/Health care/Health services/Genetic services/Genetic counselling reproductive decision-making NF1 pregnant Figures Figure 1 Figure 2 Figure 3 INTRODUCTION Neurofibromatosis type 1 (NF1) is a genetic condition, affecting approximately 1 in 3,000 individuals ( 1 ). NF1 follows an autosomal dominant inheritance pattern, meaning a child has a 50% chance of inheriting the condition if one parent is affected ( 2 ). It has a wide range of clinical features, including multiple café-au-lait macules, freckling in specific body regions, and benign nerve tumours known as neurofibromas ( 3 ). Additionally, people with NF1 often experience cognitive and behavioural issues, increased likelihood of neurodevelopmental conditions such as ADHD and autism ( 4 ). When the condition is inherited, its progression is unpredictable even within the same family ( 5 ). The lack of a clear genotype-phenotype correlation in NF1 means that the severity in a child cannot be predicted based on parent's condition ( 6 ). Pregnancy in NF1 can be complicated for mothers due to increased risks of growth in neurofibromas, hypertensive conditions, vascular complications and respiratory and cardiac issues ( 7 ). Pregnancy is often a period of anticipation, as the mother develops bonds with the infant and prepares for their arrival ( 8 , 9 ). Stronger prenatal bonding has been shown in longitudinal studies to be associated with postpartum parenting behaviour ( 10 , 11 ) and child outcomes ( 12 , 13 ). However, in pregnancies involving a prenatal diagnosis of congenital diseases, maternal bonding may be compromised, depending on mother’s emotional response and the timing of diagnosis ( 14 , 15 ). Deciding to get pregnant, pursue prenatal diagnosis, or prepare for an uncertain future regarding their child's health, can create psychological distress ( 6 ). The complexity of information involved in family planning decisions can induce fear and feelings of overwhelm ( 16 ). Parents engage in what has been described as “genetic responsibility” by making morally guided reproductive decisions for the unborn child, while dealing with the uncertainty of how the condition may affect them ( 15 , p.755). Parents commonly experience guilt for potentially passing on the condition ( 17 , 18 ) or burdening their partners ( 16 ). Access to healthcare and knowledge are also likely to shape reproductive and pregnancy experiences. The availability of reproductive genetic testing in the UK is influenced by institutional regulations, with NHS-funded preimplantation genetic testing (PGT) available only under strict eligibility criteria. Genetic counselling, service responsiveness, and support networks play a crucial role in decision-making ( 16 , 19 ) yet options can introduce new pressures and uncertainties ( 20 ). Previous NF1 research in pregnancy has primarily focused on reproductive decision-making without understanding individual’s experiences. These studies found that expectant parents with NF1 consider not only the statistical likelihood of inheritance but also the subjective meaning as shaped by their own experiences with NF1 ( 17 , 18 ). Parents’ own experiences tend to influence how they imagine their child’s future, including difficulties at school, anxiety related to visible features and challenges in relationships ( 6 , 16 ). Concerns about physical features of NF1, including those affecting appearance, also influence their perception of severity and emotional well-being of their future child even in clinically mild cases ( 6 , 21 ), yet these experiences remain unsupported, reflecting broader issues in care such as limited provider knowledge and restricted access to genetic counselling and specialist support ( 16 ). To date, no research has explored the experience of prenatal bonding in expectant parents, despite its potential relevance to how individuals engage with the pregnancy and future child. By understanding how expectant parents navigate pregnancy and form relationships with their unborn child, services can be better prepared to provide supportive care during this period of heightened uncertainty, particularly in genetic counselling and antenatal settings. This study aims to explore the pregnancy experience of expectant parents with NF1 in the UK, on how they manage emotional uncertainty and relate to their unborn child in the context of the NF1 uncertainty they face. METHOD Design A qualitative approach allowing exploratory, comprehensive, and flexible inquiry was taken ( 22 ). Grounded in a critical realist ontology ( 23 ), this study acknowledges the importance of understanding how expectant parents with NF1 construct meaning around pregnancy and bonding experiences, recognising both the shared and subjective dimensions of their realities. The researchers applied a socially conscious, neurodiversity-affirmed perspective, recognising that NF1 experiences are shaped by biological realities as well as structural and social contexts. NHS ethical approval was granted (Northwest Greater Manchester West 21/NW/0346) and the study was conducted between 01 March 2023 and 13 September 2024. Procedure Participants were initially recruited through NHS clinics and NF charities via clinician or charity referrals, in the second stage, social media advertisements were included. Eligibility criteria included: (a) being currently pregnant or having a partner with a confirmed clinical diagnosis of NF1, and (b) speaking English to ensure verbal communication with the researcher. To capture a broad range of pregnancy experiences in the context of NF1 and given that this is the first study of its kind, no participants were excluded based on reproductive decisions, including use of prenatal testing or assisted reproductive technologies. Those interested in participating were contacted via email or phone to discuss the study and arrange a suitable time for the interview. Informed consent was obtained before the interview took place. Semi-structured interviews were conducted individually with expectant parents with NF1 and/or their partners. A topic guide informed by prior literature and research team’s expertise, it covered: (a) pregnancy experiences, (b) bonding with their child, and (c) their role as a mother/father. The first four interviews were jointly conducted with HS, a clinician experienced in patient interactions, to support GK’s development in qualitative interviewing. GK, conducted the remaining interviews with ongoing feedback from DMS. All but one interview was conducted online via Zoom, with one was conducted by telephone due to lack of internet access. Participants were reminded of their right to withdraw at any stage, and a distress policy was followed to ensure ethical sensitivity. Interviews were audio recorded, securely stored, and deleted after anonymised transcription. Data analysis and interpretation Transcribed data were analysed using a reflexive thematic analysis approach ( 24 ), facilitated through NVivo software (version 12; see Fig. 1 for more detail). Reflexive thematic analysis emphasises participants’ experiential insights and researcher reflexivity in theme creation ( 24 ). An inductive approach was employed to explore a novel issue, and a latent level of analysis was applied to interpret underlying meanings and patterns beyond the surface, capturing broader contextual and social influences. The lead-researcher kept a reflective journal throughout, noting key insights, confusions, assumptions, decisions and personal development ( 24 ). During analysis, the reflective journal supported tracking of evolving interpretations, reflection on initial reactions, and support the refinement of themes through critical engagement with the data. RESULTS Participants demographics are presented in Table 1 . To ensure clarity and reflect the sample, we use the terms mother/father with NF1 and mother/father, partner throughout the results. Additionally, we use the terms 'baby' and 'child' depending on the age being referenced, aligning with participant’s own terminology. Three themes and accompanying subthemes are presented below, supported by direct participant quotes and illustrated in Fig. 2 : (a) Complexity of decision-making about reducing risk , (b) Coping in the face of the unknown , and (c) Relationship with baby: Prenatal bonding with caution. Table 1 Reported characteristics of interviewed expectant parents ( n = 14) Expectant parent with NF1 n = 10 (8 female and 2 male) partner n = 4 (3 female and 1 male) Conception choices Conceived naturally n = 10 (waiting for chorionic villus sampling (CVS) testing n = 1) IVF with PGT n = 4 Term in pregnancy First trimester n = 3 Second trimester n = 4 Third trimester n = 7 Parity First time parent n = 10 Second time parent n = 2 Third time parent n = 2 (1 couple) Age of NF1 diagnosis in the parent During infancy (age around 1–2) n = 3 During childhood (age around 7–8) n = 6 During adulthood n = 1 Origin of the parental condition Inherited from their family n = 3 Spontaneous mutation n = 7 Reported features of their pregnancy Rapid growth in skin neurofibromas n = 2 Fatigue and sleep n = 1 Emotional fluctuations n = 1 Pain in backs and legs n = 1 No symptom n = 4 Theme 1. Complexity of Decision-Making about Reducing Risk Most parents were aware of the 50% chance of their child inheriting NF1, with some also acknowledging the increased likelihood of neurodevelopmental conditions. This understanding was shaped by early information from family members and NF specialists over the years. When considering parenthood, most reported receiving additional information from their genetic counsellors and NF specialists. Views on the severity of the condition varied; while some parents thought how severely the child could be affected is uncertain, others who had inherited NF1 felt more at ease and drew on their own and their family's experiences to perceive the condition as manageable. This complexity in decision-making, shaped by uncertainty, is further explored in three subthemes. Sub-theme 1. Choosing IVF to mitigate genetic risk Four participants of this study, including one couple and two solo parents, chose IVF in their pregnancy 1 . The decision was often framed as a way to take control and to had done everything within their power to prevent their child from facing similar challenges. While it did not eliminate all uncertainty, it was viewed as a step toward reassurance; some still worried about the small remaining likelihood. “we've at least done that one step, we've taken that one thing that we had that control over, out of the equation .” (P07 – mother, partner). Emotionally, IVF was described as not a straightforward path. Participants reflected on the physical intensity of treatment and the stress of not knowing whether the early pregnancy would progress safely. Some parents considered alternatives, such as CVS, before committing to IVF, with one noting, “ if it doesn't all go to plan, we'll then look at the other options ” (P11 – mother, partner). For one, the emotional bond with the baby was intensified by the belief that this was “ the only healthy embryo ” (P09 – mother with NF1). Sub-theme 2. Balancing the desire for knowledge and control against the risk of invasive technologies Prenatal testing, such as CVS, was a key consideration, though decisions were often influenced by the perceived risks of invasive procedures. Most parents stated that they chose not to test stating that termination was not an option, citing miscarriage risk and the emotional strain of knowing their child’s diagnosis during pregnancy. Others believed their child would likely be mildly affected, similar to themselves. Ultimately, parents grappled with balancing the desire for control against the psychological burden of testing. “They could be completely fine with the condition like me … But they could be completely different, and it could affect them quite severely… if they had NF1, wouldn't want to continue with the pregnancy ” (P05 – mother with NF1). Sub-theme 3. Interpersonal and systemic influences on decision-making – supportive allies or adversaries For some expectant parents, the decision-making to have a baby was described as a private process, while others reported as a shared decision involving their wider families. “it was more Mum's worry than me. And she just said, just be happy with [partner and [cat], which is my husband and the cat, she just said that just be happy with you three ” (P12 – mother with NF1). Discussions with clinicians about inheritance patterns and variability of NF1 helped participants understand their options and gave them space to think. Reassurance from genetics professionals helped them feel more confident about their decisions. Most experiences with genetics teams and NF specialists were seen as positive. However, many parents felt frustrated by having to explain their situation repeatedly during appointments due to frequent staff changes, pointing to a lack of coordination among healthcare professionals. Most parents did not consult their GP about NF-related issues, noting “because he doesn't obviously know, he's not a specialist in it … And I don't expect him to be” (P06 – mother with NF1). Several participants reported systemic challenges, such as delays and long waiting times. Structural barriers such as NHS eligibility criteria and age limits shaped their decisions. “it was too soon to have a child with somebody ... well, we've got 2 and a half years..., so we just said, We'll crack on with it [PGT] now” (P01 – mother with NF1). Theme 2. Coping in the Face of the Unknown Uncertainty during pregnancy lead to feelings of anxiety and guilt. Anxiety about pregnancy progression, personal health, and the potential impact of NF1 on their child was expressed. Personal concerns included possible tumour growth, “emotional instability” (P04 – mother with NF1), distress over NF1’s unpredictable inheritance and severity for their child and impact on their ability to parent. Guilt of their child facing similar NF1-related challenges to them were expressed. This was managed by reminding themselves that inheriting NF1 was beyond their control and speaking to their partner for mutual support. How they coped with this emotional complexity can be seen further in three subthemes. Sub-theme 1. Readiness and preparedness for parenthood Feeling ready and prepared to become a parent helped participants stay resilient in the face of uncertainty, fostering a sense of acceptance regardless of the outcome. For those whose pregnancy was not planned, a longer emotional adjustment was needed, with preparedness developing gradually as the pregnancy progressed. “Always known that I wanted to be, yeah, can't wait for these four weeks to be done ” (P09 – father with NF1). Previous pregnancy experiences also influenced how prepared participants allowed themselves to feel, those with previous losses felt fear and one concealed pregnancy until the risk had reduced. Having a child with or without NF1 also influenced their outlook, leading them to approach with a greater acceptance rather than trying to control the uncontrollable. “(Daughter)'s not got it, and she's got ADHD. Just because they've not got it doesn't necessarily mean then you know your child's gonna grow up perfectly healthy with no other conditions” (P02 – mother with NF1). Sub-theme 2. Reassurance, knowledge, and acceptance Participants described various strategies to cope with the uncertainty and associated emotions during pregnancy, centred around reassurance, knowledge and acceptance. One commonly reported approach was seeking reassurance through typical pregnancy milestones, such as morning sickness, a growing bump, baby movements, and learning the baby’s gender, which helped them to gradually connect with the pregnancy. However, when their experiences differed, some worried something might be “wrong” and reminded themselves and their partners that every pregnancy is unique. Hearing diverse experiences from others helped maintain perspective. Hospital appointments, extra scans, and regular check-ins were also described as sources of reassurance. “an appointment that's quite reassuring and then the next time an appointment is coming up it's like, it's more of an anxious time” (P08 – mother with NF1). Gaining knowledge also helped the parents cope with uncertainty. Several participants shared that understanding NF1’s inheritance pattern and its range of possible outcomes gave them a greater sense of control in the face of uncertainty. “…as we know more about what the risk is but more than happy to take that” (P03 – father with NF1). Finally, many expectant parents described acceptance as a key process of managing their emotions. Rather than focusing on uncertainty, they tried to accept that they had no control over what would happen and focus on what they could control. For some, this included coming to terms with the possibility of having a child with NF1 and viewing it as one of life’s unpredictable events. “Like, there's no getting around that. It's a genetic condition. If I'm going to pass it on, I'm going to pass it on. There's no two ways about it” (P06 – mother with NF1). Subtheme 3: Support and connections with others Social connections were important for coping with uncertainty. These included partners, family and social media. Throughout pregnancy, partners were seen as the primary source of support for expectant parents. Many participants spoke about a strong sense of unity, expressing that they were facing uncertainties together. Expectant parents described working together to build understanding and make informed decisions. However, in some cases, partners reported holding back their own worries to avoid increasing their partner’s burden, or sought outside support such as therapy to help manage their emotions. “ I just felt guilty that it was my fault that she was having to go through it. And it wasn't nice. And I wouldn't want that for my son in the future to feel that same feeling” (P09 – father with NF1). For some, family provided essential support, especially for those who grew up in nurturing environments and reflected a hope to offer their child a similar sense of security and independence. Others described being physically and emotionally distanced from their families, due to experiences like domestic abuse. In these instances, they had an increased reliance on external support. Social media platforms offered mixed experiences. For some, platforms like Instagram and TikTok provided connection, validation, and a sense of community. However, some found online groups overwhelming, noting that the focus on severe or complex cases often heightened their anxiety about the potential severity of NF1. “I have to come away from them sometimes because, the good, there are great sorts of help but at the same time, it tends to be the very complex patience and parents” (P02 – mother, partner). Theme 3: Relationship with Baby: Prenatal Bonding with Caution Expectant parents described connecting with their baby through physical sensations such as feeling movements, talking to the baby, or imagining shared future experiences. Despite these moments, many expressed emotional hesitation, particularly in early pregnancy or after previous loss. Some described the pregnancy as “ too good to be true ” (P10 – mother with NF1) and struggled to fully believe it until seeing ultrasound images or a growing bump. Several reported delaying buying baby clothes, avoiding conversations about the baby’s sex, or keeping the pregnancy private until milestones like reaching 12-week. These actions seemed emotional safeguards for the parents, balancing hope with the fear of loss and uncertainty. This bonding is explored further in two subthemes. Sub-theme 1. Developing parenting values and responsibilities Expectant parents with NF1 expressed a desire to build a close connection, where their child felt comfortable sharing without fear, yet within defined boundaries that provide safety and structure. Many drew inspiration from their own parents, aspiring to replicate positive aspects of their upbringing while rejecting overly controlling or restrictive practices they experienced. They emphasised being “ open and honest ” (P02 – mother with NF1), particularly when discussing NF1 with their child. “They can come to me if they want anything, really, like a strong bond between me and the baby ” (P13-mother with NF1) Planned parenting roles often reflected traditional dynamics, with mothers leading day-to-day childcare while fathers aiming to support, though often constrained by work commitments. Expectant fathers expressed concern about missing key milestones or not being able to fully support their partners. “I work, so I will miss things, but, you know, steps, first words, stuff like that, being a man ” (P14 – father, partner) Sub-theme 2. Imagining the child’s future: Balancing hopes and fears All parents emphasised the importance of their children growing up happy and healthy. They shared concerns about medical challenges, including the burden of ongoing appointments and potential complications. Many expressed hope that their child would not inherit NF1 or, if they did, would be only mildly affected. For some, this meant a life free from severe health issues, to enjoy everyday experiences like working, driving, and forming relationships: “ just a healthy life, with no other complications ” (P12 – mother with NF1). Expectant parents with NF1 envisioned their child’s future in different ways. Some focused on physical traits such as “ really long beautiful hair ” (P04 – mother, NF1 ) or a “ chunky” (P09 – father with NF1 ) appearance, while others imagined shared experiences like “ going on walks and playing on the field ” (P14 – father with NF1). Emotional connection was also central, with parents imagining how they would bond with their children and create memories. However, not all had formed clear images of their children. All parents worried about societal pressures, particularly bullying or exclusion due to their child’s physical appearance or NF1-related features. Some recalled personal experience of being bullied at school due to their physical features, such as being “told to wash my neck [due to the freckles] ” (P12 – mother with NF1) and shared their fears that their child might face similar hardships. Despite these concerns, parents envisioned a future where their child achieves personal milestones, builds meaningful relationships, and develops self-confidence. “people are becoming more open-minded, but at the same time, people are only getting more and more obsessed with like appearances ” (P08 – mother with NF1). DISCUSSION This study explored lived experiences of expectant parents with NF1, and findings indicate that many approached prenatal bonding with caution, often delaying emotional investment and employing strategies to cope with the potential risk of passing on the condition. Decisions about conception and genetic testing were shaped by family input, personal and medical history, and how severe parents perceived their NF1 to be. Persistent uncertainty about pregnancy progression, health outcomes, and the child’s future contributed to anxiety, guilt, and emotional restraint—managed through internal and external coping strategies. These findings can be mapped onto Han et al.’s ( 25 ) integrative taxonomy of uncertainty in healthcare, which illustrates the sources, issues, and locus of uncertainty relevant to expectant parents with NF1 (see Fig. 3 ) to visualise how different types of uncertainty shaped participants’ emotional responses and decision-making. Our findings suggest that parents’ internal representations of their unborn child were shaped by themes of uncertainty, emotional ambivalence, and protective distancing. Some described bonding through physical sensations as seen in earlier studies ( 26 , 27 ), they also described their representation through imagining caregiving tasks or shared future experiences. However, many expressed a conscious hesitation to emotionally or mentally connect with the baby. This reluctance appeared to be a coping response to the uncertainty surrounding the condition and variability in its presentation, echoing responses to uncertainty seen in other genetic conditions ( 28 , 29 ). These behaviours can be interpreted through Uncertainty Management Theory ( 20 ), which suggests that expectant parents do not always aim to reduce uncertainty; rather, they may maintain or tolerate it to manage emotional load. In this context, emotional distancing may have served as a strategy to preserve psychological stability in the face of unknown outcomes. This interpretation may be supported by recent observational findings on NF1 parent-infant interaction, where caregiving was characterised by lower parental sensitivity and increased directiveness, even though the infants themselves did not show markedly different behaviours ( 30 ). It is possible that the parents’ internal representations of the child, shaped by uncertainty, may influence early caregiving patterns. This aligns with research suggesting that non-integrated/ambivalent mental representation of their unborn infant is associated with less maternal scaffolding behaviour and less reciprocity in dyadic interaction ( 31 , 32 ), which can, in turn, affect the child’s broader developmental outcomes. Partners were the primary source of support for most participants, particularly when couples saw themselves as a team. This sense of togetherness helped them manage the emotional and practical challenges of pregnancy. In a similar study, Hickerton et al. ( 33 ), which explored the life trajectories of families continuing a pregnancy involving a known or likely genetic condition, also highlighted partner involvement as source of resilience, often strengthening the couple's relationship. However, support systems varied. Some drew strength from close ties, while others, including solo parents or those distanced from their families, relied on external sources of support. These differences shaped coping approaches, highlighting the need to recognise and respond to the specific needs of those without close familial or partner support, who may benefit from more individualised and proactive care during pregnancy. Strengths and Limitations Most participants perceived themselves as mildly affected, regardless of their actual clinical presentation. This may reflect a sample bias, as individuals who view their condition as more severe may be less inclined to participate during pregnancy. With most participants being first-time parents, the findings may reflect a particular set of emotional and informational needs that differ from those with previous pregnancies. A key strength of the study is its focus on a critical yet underexplored period, pregnancy in the context of NF1. This focus aligns with wider public health priorities, including the United Nations ( 34 ) Sustainable Development Goal 3, which promotes good health and well-being, and the UK Government’s ( 35 ) vision for the first 1001 days, which emphasises seamless, early support for families. The inclusion of varied conception pathways (e.g., natural conception and PGT) also enriched the findings and increased representativeness, since these options are publicly funded in the UK. Implications for Practice Participants described mixed experiences with healthcare professionals and services, who were both valued sources of support and, at times, contributors to stress, particularly when communication was inconsistent. Clear and accessible communication about NF1 is therefore essential to support informed choices. Enhancing coordination and information sharing between professionals, including through integrated digital systems, could improve continuity of care and help patients feel more supported. Notably, participants consistently valued the role of NF specialists, suggesting that this UK-based model of care may offer a transferable example for other health systems. The emotional impact of pregnancy in the context of genetic uncertainty was evident across participants. Yet only one parent reported accessing therapy, which helped with feelings of guilt. This highlights the importance of routine psychological support within prenatal care for families facing an increased likelihood of a genetic condition. Finally, in the context of NF1, where uncertainty about a child’s future can complicate emotional connection during pregnancy, structured interventions like Baby Triple P ( 36 ), which has been adapted for antenatal settings, could help parents build confidence, regulate anxiety, and strengthen early bonding. Implications for Future Research Although this study focused primarily on the pregnancy period and early bonding, it also offered insights into experiences with reproductive technologies. The psychological and social implications of using options such as PGT for NF1 can be explored further. Longitudinal qualitative studies can further explore how expectant parents’ experiences evolve during and after pregnancy, particularly in terms of their psychological adjustment and changing representations of their child. Finally, our participant group included diverse social identities, such as solo parenthood, involvement with social services, and specific cultural backgrounds. Future research should explore how these intersecting identities shape experiences of NF1 in pregnancy. Conclusion To our knowledge, this is the first study to explore the lived experiences of expectant parents with NF1. These findings highlight the emotional complexity of pregnancy for expectant parents with NF1, showing how genetic uncertainty can disrupt early emotional connection with the unborn child, and revealing limitations in standard care models and the need for more psychologically responsive support. Declarations Data Availability Statement: The data used in this study can be available from the corresponding author on reasonable request. Acknowledgements: We would like to thank Nerve Tumours UK and Manchester University NHS Foundation Trust for their support with participant recruitment, and to expectant parents for their participation. Author Contributions: GK conceived and designed the study, acquired the data, performed the analysis, interpreted the results, and drafted and revised the manuscript. DMS conceived and designed the study, supervised data collection and analysis, contributed to the interpretation of the results, and revised the manuscript. MWW contributed to the study conception, provided supervisory input, and revised the manuscript. HS contributed to data collection and revised the manuscript. EBW contributed to participant recruitment and data collection, and revised the manuscript. SG was the principal supervisor of the study, contributed to its conception and design, participated in data collection and recruitment, and revised the manuscript. All authors approved the final version of the manuscript and agreed to be accountable for all aspects of the work. Funding/Support: This research was supported by the NIHR Manchester Biomedical Research Centre (NIHR203308). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. Gamze Kaplan is a PhD student, and their study was supported by the Republic of Türkiye Ministry of National Education. HS undertaking a PhD Fellowship funded by the Christie Charity. 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J Crit Realism. 2020;19(2):113–20. Braun V, Clarke V. Thematic analysis: a practical guide. Sage Publications; Han PKJ, Babrow A, Hillen MA, Gulbrandsen P, Smets EM, Ofstad EH. Uncertainty in health care: Towards a more systematic program of research. Patient Educ Couns. 2019;102(10):1756–66. DiPietro JA. Psychological and psychophysiological considerations regarding the maternal–fetal relationship. Infant Child Dev. 2010;19(1):27–38. Richter L, Slemming W, Norris SA, Stein A, Poston L, Pasupathy D. Health Pregnancy, Healthy Baby: testing the added benefits of pregnancy ultrasound scan for child development in a randomised control trial. Trials. 2020;21(1):25. Hammond J, Klapwijk JE, Hill M, Lou S, Ormond KE, Diderich KEM, et al. Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty. J Genet Couns. 2021;30(1):198–210. Raspa M, Kutsa O, Andrews SM, Gwaltney AY, Mallonee E, Creamer A, et al. Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening. Eur J Hum Genet. 2024;32(4):392–8. Kaplan G, Garg S, Smith DM, Begum-Ali J, Jones EJH, Green J, et al. Parent-infant interaction in the context of emerging neurodiversities: Neurofibromatosis 1 and elevated likelihood of ADHD. Infant Behav Dev. 2025;79:102036. Guyon-Harris KL, Carell R, DeVlieger S, Humphreys KL, Huth‐Bocks AC. The emotional tone of child descriptions during pregnancy is associated with later parenting. Infant Ment Health J. 2021;42(5):731–9. Tambelli R, Odorisio F, Lucarelli L. Prenatal and postnatal maternal representations in nonrisk and at-risk parenting: exploring the influences on mother-infant feeding interactions: Prenatal and postnatal maternal representations. Infant Ment Health J. 2014;35(4):376–88. Hickerton CL, Aitken M, Hodgson J, Delatycki MB. “ Did you find that out in time ?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet A. 2012;158A(2):373–83. Transforming our world: The 2030 Agenda for Sustainable Development. [Internet]. United Nations; 2015. Available from: https://sdgs.un.org/2030agenda HM Government. The best start for life: a vision for the 1,001 critical days. [Internet]. Department of Health and Social Care.; 2021. Available from: https://www.gov.uk/government/publications/the-best-start-for-life-a-vision-for-the-1001-critical-days Triple P for baby. Triple P International Pty Ltd; 2023. Footnotes The "IVF path" refers to the use of IVF in combination with preimplantation genetic testing (PGT). This process involves creating embryos through IVF and genetically testing them for the condition before implantation. See: Genomics Education Programme – Preimplantation Genetic Testing Additional Declarations There is no duality of interest Cite Share Download PDF Status: Published Journal Publication published 22 Apr, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted Editorial decision: revise 08 Jan, 2026 Review # 3 received at journal 28 Dec, 2025 Reviewer # 3 agreed at journal 12 Dec, 2025 Review # 2 received at journal 03 Sep, 2025 Reviewer # 2 agreed at journal 31 Jul, 2025 Reviewer # 1 agreed at journal 22 Jul, 2025 Reviewers invited by journal 22 Jul, 2025 Submission checks completed at journal 08 Jul, 2025 Editor assigned by journal 03 Jul, 2025 First submitted to journal 03 Jul, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7041890","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":489220593,"identity":"84de20d0-7f7b-4d5e-9066-bec972de1e8c","order_by":0,"name":"Shruti Garg","email":"data:image/png;base64,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","orcid":"","institution":"Manchester University","correspondingAuthor":true,"prefix":"","firstName":"Shruti","middleName":"","lastName":"Garg","suffix":""},{"id":489220594,"identity":"1cccc2e1-59e6-4bf5-bf52-c1979bf96de9","order_by":1,"name":"Gamze Kaplan","email":"","orcid":"https://orcid.org/0000-0003-4613-1359","institution":"The University of Manchester","correspondingAuthor":false,"prefix":"","firstName":"Gamze","middleName":"","lastName":"Kaplan","suffix":""},{"id":489220595,"identity":"a4b5e806-f125-4b1d-8d27-91be9dfdd534","order_by":2,"name":"Debbie M. Smith","email":"","orcid":"","institution":"The University of Manchester","correspondingAuthor":false,"prefix":"","firstName":"Debbie","middleName":"M.","lastName":"Smith","suffix":""},{"id":489220596,"identity":"fb19d857-239c-4b5a-9d3b-70792851e05f","order_by":3,"name":"Ming Wai Wan","email":"","orcid":"","institution":"The University of Manchester","correspondingAuthor":false,"prefix":"","firstName":"Ming","middleName":"Wai","lastName":"Wan","suffix":""},{"id":489220597,"identity":"a9d43f3c-40e7-43b8-b798-5d231a7d7d22","order_by":4,"name":"Hannah Slevin","email":"","orcid":"","institution":"The University of Manchester","correspondingAuthor":false,"prefix":"","firstName":"Hannah","middleName":"","lastName":"Slevin","suffix":""},{"id":489220598,"identity":"3743f05b-c89c-4e68-88b3-b82fac4a3469","order_by":5,"name":"Emma Burkitt-wright","email":"","orcid":"","institution":"Manchester University Hospitals NHS Foundation Trust","correspondingAuthor":false,"prefix":"","firstName":"Emma","middleName":"","lastName":"Burkitt-wright","suffix":""}],"badges":[],"createdAt":"2025-07-04 01:00:12","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-7041890/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7041890/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1038/s41431-026-02099-6","type":"published","date":"2026-04-22T04:00:00+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":87553090,"identity":"0f0b0a95-914c-48d5-a59b-1562d39305a2","added_by":"auto","created_at":"2025-07-25 06:35:09","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":200453,"visible":true,"origin":"","legend":"\u003cp\u003eDetailed steps taken in reflexive thematic analysis [based on Braun \u0026amp; Clarke (24)]\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-7041890/v1/68fbd7e902f511dbe144e262.png"},{"id":87553091,"identity":"14a1eda5-25a6-405a-b962-a561fd61dbf8","added_by":"auto","created_at":"2025-07-25 06:35:09","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":112075,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cem\u003eThree themes and sub-themes were created following the steps of reflexive thematic analysis.\u003c/em\u003e\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-7041890/v1/f5d7a644bd7cbbee29d4434d.png"},{"id":87553094,"identity":"fea6a065-af61-46bd-a730-27f7ec1401be","added_by":"auto","created_at":"2025-07-25 06:35:09","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":95515,"visible":true,"origin":"","legend":"\u003cp\u003eHan et al.’s (25)taxonomy of uncertainty applied to the experiences of expectant parents with NF1.\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-7041890/v1/ae7a54e21579749eeeb5c003.png"},{"id":107603043,"identity":"0a9f0f22-4481-4a45-a758-b3774694e4ff","added_by":"auto","created_at":"2026-04-23 07:05:39","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":940184,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7041890/v1/23eb56a2-86c9-4443-a299-59aed5e246cd.pdf"}],"financialInterests":"There is no duality of interest","formattedTitle":"Pregnancy experiences of expectant parents with Neurofibromatosis type 1: A qualitative interview study","fulltext":[{"header":"INTRODUCTION","content":"\u003cp\u003eNeurofibromatosis type 1 (NF1) is a genetic condition, affecting approximately 1 in 3,000 individuals (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). NF1 follows an autosomal dominant inheritance pattern, meaning a child has a 50% chance of inheriting the condition if one parent is affected (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). It has a wide range of clinical features, including multiple caf\u0026eacute;-au-lait macules, freckling in specific body regions, and benign nerve tumours known as neurofibromas (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). Additionally, people with NF1 often experience cognitive and behavioural issues, increased likelihood of neurodevelopmental conditions such as ADHD and autism (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e). When the condition is inherited, its progression is unpredictable even within the same family (\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). The lack of a clear genotype-phenotype correlation in NF1 means that the severity in a child cannot be predicted based on parent's condition (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). Pregnancy in NF1 can be complicated for mothers due to increased risks of growth in neurofibromas, hypertensive conditions, vascular complications and respiratory and cardiac issues (\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e).\u003c/p\u003e\u003cp\u003ePregnancy is often a period of anticipation, as the mother develops bonds with the infant and prepares for their arrival (\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e, \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e). Stronger prenatal bonding has been shown in longitudinal studies to be associated with postpartum parenting behaviour (\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e) and child outcomes (\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e, \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e). However, in pregnancies involving a prenatal diagnosis of congenital diseases, maternal bonding may be compromised, depending on mother\u0026rsquo;s emotional response and the timing of diagnosis (\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eDeciding to get pregnant, pursue prenatal diagnosis, or prepare for an uncertain future regarding their child's health, can create psychological distress (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). The complexity of information involved in family planning decisions can induce fear and feelings of overwhelm (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e). Parents engage in what has been described as \u0026ldquo;genetic responsibility\u0026rdquo; by making morally guided reproductive decisions for the unborn child, while dealing with the uncertainty of how the condition may affect them (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e, p.755). Parents commonly experience guilt for potentially passing on the condition (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e) or burdening their partners (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e). Access to healthcare and knowledge are also likely to shape reproductive and pregnancy experiences. The availability of reproductive genetic testing in the UK is influenced by institutional regulations, with NHS-funded preimplantation genetic testing (PGT) available only under strict eligibility criteria. Genetic counselling, service responsiveness, and support networks play a crucial role in decision-making (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e, \u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e) yet options can introduce new pressures and uncertainties (\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e).\u003c/p\u003e\u003cp\u003ePrevious NF1 research in pregnancy has primarily focused on reproductive decision-making without understanding individual\u0026rsquo;s experiences. These studies found that expectant parents with NF1 consider not only the statistical likelihood of inheritance but also the subjective meaning as shaped by their own experiences with NF1 (\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e, \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e). Parents\u0026rsquo; own experiences tend to influence how they imagine their child\u0026rsquo;s future, including difficulties at school, anxiety related to visible features and challenges in relationships (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e). Concerns about physical features of NF1, including those affecting appearance, also influence their perception of severity and emotional well-being of their future child even in clinically mild cases (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e), yet these experiences remain unsupported, reflecting broader issues in care such as limited provider knowledge and restricted access to genetic counselling and specialist support (\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eTo date, no research has explored the experience of prenatal bonding in expectant parents, despite its potential relevance to how individuals engage with the pregnancy and future child. By understanding how expectant parents navigate pregnancy and form relationships with their unborn child, services can be better prepared to provide supportive care during this period of heightened uncertainty, particularly in genetic counselling and antenatal settings. This study aims to explore the pregnancy experience of expectant parents with NF1 in the UK, on how they manage emotional uncertainty and relate to their unborn child in the context of the NF1 uncertainty they face.\u003c/p\u003e"},{"header":"METHOD","content":"\u003cp\u003e\u003cb\u003eDesign\u003c/b\u003e\u003c/p\u003e\u003cp\u003eA qualitative approach allowing exploratory, comprehensive, and flexible inquiry was taken (\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e). Grounded in a critical realist ontology (\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e), this study acknowledges the importance of understanding how expectant parents with NF1 construct meaning around pregnancy and bonding experiences, recognising both the shared and subjective dimensions of their realities. The researchers applied a socially conscious, neurodiversity-affirmed perspective, recognising that NF1 experiences are shaped by biological realities as well as structural and social contexts. NHS ethical approval was granted (Northwest Greater Manchester West 21/NW/0346) and the study was conducted between 01 March 2023 and 13 September 2024.\u003c/p\u003e\u003cp\u003e\u003cb\u003eProcedure\u003c/b\u003e\u003c/p\u003e\u003cp\u003eParticipants were initially recruited through NHS clinics and NF charities via clinician or charity referrals, in the second stage, social media advertisements were included. Eligibility criteria included: (a) being currently pregnant or having a partner with a confirmed clinical diagnosis of NF1, and (b) speaking English to ensure verbal communication with the researcher. To capture a broad range of pregnancy experiences in the context of NF1 and given that this is the first study of its kind, no participants were excluded based on reproductive decisions, including use of prenatal testing or assisted reproductive technologies. Those interested in participating were contacted via email or phone to discuss the study and arrange a suitable time for the interview. Informed consent was obtained before the interview took place.\u003c/p\u003e\u003cp\u003eSemi-structured interviews were conducted individually with expectant parents with NF1 and/or their partners. A topic guide informed by prior literature and research team\u0026rsquo;s expertise, it covered: (a) pregnancy experiences, (b) bonding with their child, and (c) their role as a mother/father. The first four interviews were jointly conducted with HS, a clinician experienced in patient interactions, to support GK\u0026rsquo;s development in qualitative interviewing. GK, conducted the remaining interviews with ongoing feedback from DMS. All but one interview was conducted online via Zoom, with one was conducted by telephone due to lack of internet access. Participants were reminded of their right to withdraw at any stage, and a distress policy was followed to ensure ethical sensitivity. Interviews were audio recorded, securely stored, and deleted after anonymised transcription.\u003c/p\u003e\u003cp\u003e\u003cb\u003eData analysis and interpretation\u003c/b\u003e\u003c/p\u003e\u003cp\u003eTranscribed data were analysed using a reflexive thematic analysis approach (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e), facilitated through NVivo software (version 12; see Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e1\u003c/span\u003e for more detail). Reflexive thematic analysis emphasises participants\u0026rsquo; experiential insights and researcher reflexivity in theme creation (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e). An inductive approach was employed to explore a novel issue, and a latent level of analysis was applied to interpret underlying meanings and patterns beyond the surface, capturing broader contextual and social influences.\u003c/p\u003e\u003cp\u003eThe lead-researcher kept a reflective journal throughout, noting key insights, confusions, assumptions, decisions and personal development (\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e). During analysis, the reflective journal supported tracking of evolving interpretations, reflection on initial reactions, and support the refinement of themes through critical engagement with the data.\u003c/p\u003e\u003cp\u003e\u0026lt;FIGURE \u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e1\u003c/span\u003e WILL BE LOCATED HERE\u0026gt;\u003c/p\u003e"},{"header":"RESULTS","content":"\u003cp\u003eParticipants demographics are presented in Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e. To ensure clarity and reflect the sample, we use the terms \u003cem\u003emother/father with NF1\u003c/em\u003e and \u003cem\u003emother/father, partner\u003c/em\u003e throughout the results. Additionally, we use the terms \u003cem\u003e'baby'\u003c/em\u003e and \u003cem\u003e'child'\u003c/em\u003e depending on the age being referenced, aligning with participant\u0026rsquo;s own terminology.\u003c/p\u003e\u003cp\u003eThree themes and accompanying subthemes are presented below, supported by direct participant quotes and illustrated in Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e2\u003c/span\u003e: (a) \u003cem\u003eComplexity of decision-making about reducing risk\u003c/em\u003e, (b) \u003cem\u003eCoping in the face of the unknown\u003c/em\u003e, and (c) \u003cem\u003eRelationship with baby: Prenatal bonding with caution.\u003c/em\u003e\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eReported characteristics of interviewed expectant parents (\u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;14)\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"2\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u003cp\u003eExpectant parent\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003ewith NF1 \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;10 (8 female and 2 male)\u003c/p\u003e\u003cp\u003epartner \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;4 (3 female and 1 male)\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eConception choices\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eConceived naturally \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;10 (waiting for chorionic villus sampling (CVS) testing n\u0026thinsp;=\u0026thinsp;1)\u003c/p\u003e\u003cp\u003eIVF with PGT \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;4\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTerm in pregnancy\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eFirst trimester \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;3\u003c/p\u003e\u003cp\u003eSecond trimester \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;4\u003c/p\u003e\u003cp\u003eThird trimester \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;7\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eParity\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eFirst time parent \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;10\u003c/p\u003e\u003cp\u003eSecond time parent \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;2\u003c/p\u003e\u003cp\u003eThird time parent \u003cem\u003en\u003c/em\u003e\u0026thinsp;=\u0026thinsp;2 (1 couple)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eAge of NF1 diagnosis in the parent\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eDuring infancy (age around 1\u0026ndash;2) n\u0026thinsp;=\u0026thinsp;3\u003c/p\u003e\u003cp\u003eDuring childhood (age around 7\u0026ndash;8) \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;6\u003c/p\u003e\u003cp\u003eDuring adulthood \u003cem\u003en\u0026thinsp;=\u003c/em\u003e\u0026thinsp;1\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOrigin of the parental condition\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eInherited from their family n\u0026thinsp;=\u0026thinsp;3\u003c/p\u003e\u003cp\u003eSpontaneous mutation n\u0026thinsp;=\u0026thinsp;7\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eReported features of their pregnancy\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003eRapid growth in skin neurofibromas n\u0026thinsp;=\u0026thinsp;2\u003c/p\u003e\u003cp\u003eFatigue and sleep n\u0026thinsp;=\u0026thinsp;1\u003c/p\u003e\u003cp\u003eEmotional fluctuations n\u0026thinsp;=\u0026thinsp;1\u003c/p\u003e\u003cp\u003ePain in backs and legs n\u0026thinsp;=\u0026thinsp;1\u003c/p\u003e\u003cp\u003eNo symptom n\u0026thinsp;=\u0026thinsp;4\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u0026lt;Table \u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e WILL BE LOCATED HERE\u0026gt;\u003c/p\u003e\u003cp\u003e\u0026lt;FIGURE \u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e2\u003c/span\u003e WILL BE LOCATED HERE\u0026gt;\u003c/p\u003e\u003cp\u003e\u003cb\u003eTheme 1. Complexity of Decision-Making about Reducing Risk\u003c/b\u003e\u003c/p\u003e\u003cp\u003e Most parents were aware of the 50% chance of their child inheriting NF1, with some also acknowledging the increased likelihood of neurodevelopmental conditions. This understanding was shaped by early information from family members and NF specialists over the years. When considering parenthood, most reported receiving additional information from their genetic counsellors and NF specialists. Views on the severity of the condition varied; while some parents thought how severely the child could be affected is uncertain, others who had inherited NF1 felt more at ease and drew on their own and their family's experiences to perceive the condition as manageable. This complexity in decision-making, shaped by uncertainty, is further explored in three subthemes.\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 1. Choosing IVF to mitigate genetic risk\u003c/b\u003e\u003c/p\u003e\u003cp\u003eFour participants of this study, including one couple and two solo parents, chose IVF in their pregnancy\u003csup\u003e1\u003c/sup\u003e. The decision was often framed as a way to take control and to had done everything within their power to prevent their child from facing similar challenges. While it did not eliminate all uncertainty, it was viewed as a step toward reassurance; some still worried about the small remaining likelihood.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;we've at least done that one step, we've taken that one thing that we had that control over, out of the equation\u003c/em\u003e.\u0026rdquo; (P07 \u0026ndash; mother, partner).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003eEmotionally, IVF was described as not a straightforward path. Participants reflected on the physical intensity of treatment and the stress of not knowing whether the early pregnancy would progress safely. Some parents considered alternatives, such as CVS, before committing to IVF, with one noting, \u0026ldquo;\u003cem\u003eif it doesn't all go to plan, we'll then look at the other options\u003c/em\u003e\u0026rdquo; (P11 \u0026ndash; mother, partner). For one, the emotional bond with the baby was intensified by the belief that this was \u0026ldquo;\u003cem\u003ethe only healthy embryo\u003c/em\u003e\u0026rdquo; (P09 \u0026ndash; mother with NF1).\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 2. Balancing the desire for knowledge and control against the risk of invasive technologies\u003c/b\u003e\u003c/p\u003e\u003cp\u003ePrenatal testing, such as CVS, was a key consideration, though decisions were often influenced by the perceived risks of invasive procedures. Most parents stated that they chose not to test stating that termination was not an option, citing miscarriage risk and the emotional strain of knowing their child\u0026rsquo;s diagnosis during pregnancy. Others believed their child would likely be mildly affected, similar to themselves. Ultimately, parents grappled with balancing the desire for control against the psychological burden of testing.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;They could be completely fine with the condition like me \u0026hellip; But they could be completely different, and it could affect them quite severely\u0026hellip; if they had NF1, wouldn't want to continue with the pregnancy\u003c/em\u003e\u0026rdquo; (P05 \u0026ndash; mother with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 3. Interpersonal and systemic influences on decision-making \u0026ndash; supportive allies or adversaries\u003c/b\u003e\u003c/p\u003e\u003cp\u003e For some expectant parents, the decision-making to have a baby was described as a private process, while others reported as a shared decision involving their wider families.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;it was more Mum's worry than me. And she just said, just be happy with [partner and [cat], which is my husband and the cat, she just said that just be happy with you three\u003c/em\u003e\u0026rdquo; (P12 \u0026ndash; mother with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003eDiscussions with clinicians about inheritance patterns and variability of NF1 helped participants understand their options and gave them space to think. Reassurance from genetics professionals helped them feel more confident about their decisions. Most experiences with genetics teams and NF specialists were seen as positive. However, many parents felt frustrated by having to explain their situation repeatedly during appointments due to frequent staff changes, pointing to a lack of coordination among healthcare professionals. Most parents did not consult their GP about NF-related issues, noting \u003cem\u003e\u0026ldquo;because he doesn't obviously know, he's not a specialist in it \u0026hellip; And I don't expect him to be\u0026rdquo;\u003c/em\u003e (P06 \u0026ndash; mother with NF1).\u003c/p\u003e\u003cp\u003eSeveral participants reported systemic challenges, such as delays and long waiting times. Structural barriers such as NHS eligibility criteria and age limits shaped their decisions.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;it was too soon to have a child with somebody ... well, we've got 2 and a half years..., so we just said, We'll crack on with it [PGT] now\u0026rdquo;\u003c/em\u003e (P01 \u0026ndash; mother with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eTheme 2. Coping in the Face of the Unknown\u003c/b\u003e\u003c/p\u003e\u003cp\u003eUncertainty during pregnancy lead to feelings of anxiety and guilt. Anxiety about pregnancy progression, personal health, and the potential impact of NF1 on their child was expressed. Personal concerns included possible tumour growth, \u003cem\u003e\u0026ldquo;emotional instability\u0026rdquo;\u003c/em\u003e (P04 \u0026ndash; mother with NF1), distress over NF1\u0026rsquo;s unpredictable inheritance and severity for their child and impact on their ability to parent. Guilt of their child facing similar NF1-related challenges to them were expressed. This was managed by reminding themselves that inheriting NF1 was beyond their control and speaking to their partner for mutual support. How they coped with this emotional complexity can be seen further in three subthemes.\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 1. Readiness and preparedness for parenthood\u003c/b\u003e\u003c/p\u003e\u003cp\u003eFeeling ready and prepared to become a parent helped participants stay resilient in the face of uncertainty, fostering a sense of acceptance regardless of the outcome. For those whose pregnancy was not planned, a longer emotional adjustment was needed, with preparedness developing gradually as the pregnancy progressed.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;Always known that I wanted to be, yeah, can't wait for these four weeks to be done\u003c/em\u003e\u0026rdquo; (P09 \u0026ndash; father with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003ePrevious pregnancy experiences also influenced how prepared participants allowed themselves to feel, those with previous losses felt fear and one concealed pregnancy until the risk had reduced. Having a child with or without NF1 also influenced their outlook, leading them to approach with a greater acceptance rather than trying to control the uncontrollable.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;(Daughter)'s not got it, and she's got ADHD. Just because they've not got it doesn't necessarily mean then you know your child's gonna grow up perfectly healthy with no other conditions\u0026rdquo; (P02 \u0026ndash; mother with NF1).\u003c/em\u003e\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 2. Reassurance, knowledge, and acceptance\u003c/b\u003e\u003c/p\u003e\u003cp\u003eParticipants described various strategies to cope with the uncertainty and associated emotions during pregnancy, centred around reassurance, knowledge and acceptance. One commonly reported approach was seeking reassurance through typical pregnancy milestones, such as morning sickness, a growing bump, baby movements, and learning the baby\u0026rsquo;s gender, which helped them to gradually connect with the pregnancy. However, when their experiences differed, some worried something might be \u0026ldquo;wrong\u0026rdquo; and reminded themselves and their partners that every pregnancy is unique. Hearing diverse experiences from others helped maintain perspective. Hospital appointments, extra scans, and regular check-ins were also described as sources of reassurance.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;an appointment that's quite reassuring and then the next time an appointment is coming up it's like, it's more of an anxious time\u0026rdquo; (P08 \u0026ndash; mother with NF1).\u003c/em\u003e\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003eGaining knowledge also helped the parents cope with uncertainty. Several participants shared that understanding NF1\u0026rsquo;s inheritance pattern and its range of possible outcomes gave them a greater sense of control in the face of uncertainty.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;\u0026hellip;as we know more about what the risk is but more than happy to take that\u0026rdquo;\u003c/em\u003e (P03 \u0026ndash; father with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e Finally, many expectant parents described acceptance as a key process of managing their emotions. Rather than focusing on uncertainty, they tried to accept that they had no control over what would happen and focus on what they could control. For some, this included coming to terms with the possibility of having a child with NF1 and viewing it as one of life\u0026rsquo;s unpredictable events.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;Like, there's no getting around that. It's a genetic condition. If I'm going to pass it on, I'm going to pass it on. There's no two ways about it\u0026rdquo;\u003c/em\u003e (P06 \u0026ndash; mother with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eSubtheme 3: Support and connections with others\u003c/b\u003e\u003c/p\u003e\u003cp\u003eSocial connections were important for coping with uncertainty. These included partners, family and social media. Throughout pregnancy, partners were seen as the primary source of support for expectant parents. Many participants spoke about a strong sense of unity, expressing that they were facing uncertainties together. Expectant parents described working together to build understanding and make informed decisions. However, in some cases, partners reported holding back their own worries to avoid increasing their partner\u0026rsquo;s burden, or sought outside support such as therapy to help manage their emotions.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u0026ldquo;\u003cem\u003eI just felt guilty that it was my fault that she was having to go through it. And it wasn't nice. And I wouldn't want that for my son in the future to feel that same feeling\u0026rdquo;\u003c/em\u003e (P09 \u0026ndash; father with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e For some, family provided essential support, especially for those who grew up in nurturing environments and reflected a hope to offer their child a similar sense of security and independence. Others described being physically and emotionally distanced from their families, due to experiences like domestic abuse. In these instances, they had an increased reliance on external support.\u003c/p\u003e\u003cp\u003eSocial media platforms offered mixed experiences. For some, platforms like Instagram and TikTok provided connection, validation, and a sense of community. However, some found online groups overwhelming, noting that the focus on severe or complex cases often heightened their anxiety about the potential severity of NF1.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I have to come away from them sometimes because, the good, there are great sorts of help but at the same time, it tends to be the very complex patience and parents\u0026rdquo;\u003c/em\u003e (P02 \u0026ndash; mother, partner).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eTheme 3: Relationship with Baby: Prenatal Bonding with Caution\u003c/b\u003e\u003c/p\u003e\u003cp\u003e Expectant parents described connecting with their baby through physical sensations such as feeling movements, talking to the baby, or imagining shared future experiences. Despite these moments, many expressed emotional hesitation, particularly in early pregnancy or after previous loss. Some described the pregnancy as \u0026ldquo;\u003cem\u003etoo good to be true\u003c/em\u003e\u0026rdquo; (P10 \u0026ndash; mother with NF1) and struggled to fully believe it until seeing ultrasound images or a growing bump. Several reported delaying buying baby clothes, avoiding conversations about the baby\u0026rsquo;s sex, or keeping the pregnancy private until milestones like reaching 12-week. These actions seemed emotional safeguards for the parents, balancing hope with the fear of loss and uncertainty. This bonding is explored further in two subthemes.\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 1. Developing parenting values and responsibilities\u003c/b\u003e\u003c/p\u003e\u003cp\u003e Expectant parents with NF1 expressed a desire to build a close connection, where their child felt comfortable sharing without fear, yet within defined boundaries that provide safety and structure. Many drew inspiration from their own parents, aspiring to replicate positive aspects of their upbringing while rejecting overly controlling or restrictive practices they experienced. They emphasised being \u0026ldquo;\u003cem\u003eopen and honest\u003c/em\u003e\u0026rdquo; (P02 \u0026ndash; mother with NF1), particularly when discussing NF1 with their child.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;They can come to me if they want anything, really, like a strong bond between me and the baby\u003c/em\u003e\u0026rdquo; (P13-mother with NF1)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003ePlanned parenting roles often reflected traditional dynamics, with mothers leading day-to-day childcare while fathers aiming to support, though often constrained by work commitments. Expectant fathers expressed concern about missing key milestones or not being able to fully support their partners.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;I work, so I will miss things, but, you know, steps, first words, stuff like that, being a man\u003c/em\u003e\u0026rdquo; (P14 \u0026ndash; father, partner)\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003cb\u003eSub-theme 2. Imagining the child\u0026rsquo;s future: Balancing hopes and fears\u003c/b\u003e\u003c/p\u003e\u003cp\u003eAll parents emphasised the importance of their children growing up happy and healthy. They shared concerns about medical challenges, including the burden of ongoing appointments and potential complications. Many expressed hope that their child would not inherit NF1 or, if they did, would be only mildly affected. For some, this meant a life free from severe health issues, to enjoy everyday experiences like working, driving, and forming relationships: \u0026ldquo;\u003cem\u003ejust a healthy life, with no other complications\u003c/em\u003e\u0026rdquo; (P12 \u0026ndash; mother with NF1).\u003c/p\u003e\u003cp\u003eExpectant parents with NF1 envisioned their child\u0026rsquo;s future in different ways. Some focused on physical traits such as \u0026ldquo;\u003cem\u003ereally long beautiful hair\u003c/em\u003e\u0026rdquo; (P04 \u0026ndash; mother, NF1\u003cem\u003e)\u003c/em\u003e or a \u0026ldquo;\u003cem\u003echunky\u0026rdquo; (P09\u003c/em\u003e \u0026ndash; father with NF1\u003cem\u003e)\u003c/em\u003e appearance, while others imagined shared experiences like \u0026ldquo;\u003cem\u003egoing on walks and playing on the field\u003c/em\u003e\u0026rdquo; (P14 \u0026ndash; father with NF1). Emotional connection was also central, with parents imagining how they would bond with their children and create memories. However, not all had formed clear images of their children.\u003c/p\u003e\u003cp\u003e All parents worried about societal pressures, particularly bullying or exclusion due to their child\u0026rsquo;s physical appearance or NF1-related features. Some recalled personal experience of being bullied at school due to their physical features, such as being \u003cem\u003e\u0026ldquo;told to wash my neck [due to the freckles]\u003c/em\u003e\u0026rdquo; (P12 \u0026ndash; mother with NF1) and shared their fears that their child might face similar hardships. Despite these concerns, parents envisioned a future where their child achieves personal milestones, builds meaningful relationships, and develops self-confidence.\u003cdiv class=\"BlockQuote\"\u003e\u003cp\u003e\u003cem\u003e\u0026ldquo;people are becoming more open-minded, but at the same time, people are only getting more and more obsessed with like appearances\u003c/em\u003e\u0026rdquo; (P08 \u0026ndash; mother with NF1).\u003c/p\u003e\u003c/div\u003e\u003c/p\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eThis study explored lived experiences of expectant parents with NF1, and findings indicate that many approached prenatal bonding with caution, often delaying emotional investment and employing strategies to cope with the potential risk of passing on the condition. Decisions about conception and genetic testing were shaped by family input, personal and medical history, and how severe parents perceived their NF1 to be. Persistent uncertainty about pregnancy progression, health outcomes, and the child\u0026rsquo;s future contributed to anxiety, guilt, and emotional restraint\u0026mdash;managed through internal and external coping strategies. These findings can be mapped onto Han et al.\u0026rsquo;s (\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e) integrative taxonomy of uncertainty in healthcare, which illustrates the sources, issues, and locus of uncertainty relevant to expectant parents with NF1 (see Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e3\u003c/span\u003e) to visualise how different types of uncertainty shaped participants\u0026rsquo; emotional responses and decision-making.\u003c/p\u003e\u003cp\u003e\u0026lt;FIGURE \u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e3\u003c/span\u003e WILL BE LOCATED HERE\u0026gt;\u003c/p\u003e\u003cp\u003e Our findings suggest that parents\u0026rsquo; internal representations of their unborn child were shaped by themes of uncertainty, emotional ambivalence, and protective distancing. Some described bonding through physical sensations as seen in earlier studies (\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e, \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e), they also described their representation through imagining caregiving tasks or shared future experiences. However, many expressed a conscious hesitation to emotionally or mentally connect with the baby. This reluctance appeared to be a coping response to the uncertainty surrounding the condition and variability in its presentation, echoing responses to uncertainty seen in other genetic conditions (\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e, \u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eThese behaviours can be interpreted through Uncertainty Management Theory (\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e), which suggests that expectant parents do not always aim to reduce uncertainty; rather, they may maintain or tolerate it to manage emotional load. In this context, emotional distancing may have served as a strategy to preserve psychological stability in the face of unknown outcomes. This interpretation may be supported by recent observational findings on NF1 parent-infant interaction, where caregiving was characterised by lower parental sensitivity and increased directiveness, even though the infants themselves did not show markedly different behaviours (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e). It is possible that the parents\u0026rsquo; internal representations of the child, shaped by uncertainty, may influence early caregiving patterns. This aligns with research suggesting that non-integrated/ambivalent mental representation of their unborn infant is associated with less maternal scaffolding behaviour and less reciprocity in dyadic interaction (\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e, \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e), which can, in turn, affect the child\u0026rsquo;s broader developmental outcomes.\u003c/p\u003e\u003cp\u003e Partners were the primary source of support for most participants, particularly when couples saw themselves as a team. This sense of togetherness helped them manage the emotional and practical challenges of pregnancy. In a similar study, Hickerton et al. (\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e), which explored the life trajectories of families continuing a pregnancy involving a known or likely genetic condition, also highlighted partner involvement as source of resilience, often strengthening the couple's relationship. However, support systems varied. Some drew strength from close ties, while others, including solo parents or those distanced from their families, relied on external sources of support. These differences shaped coping approaches, highlighting the need to recognise and respond to the specific needs of those without close familial or partner support, who may benefit from more individualised and proactive care during pregnancy.\u003c/p\u003e\u003cp\u003e\u003cb\u003eStrengths and Limitations\u003c/b\u003e\u003c/p\u003e\u003cp\u003eMost participants perceived themselves as mildly affected, regardless of their actual clinical presentation. This may reflect a sample bias, as individuals who view their condition as more severe may be less inclined to participate during pregnancy. With most participants being first-time parents, the findings may reflect a particular set of emotional and informational needs that differ from those with previous pregnancies.\u003c/p\u003e\u003cp\u003eA key strength of the study is its focus on a critical yet underexplored period, pregnancy in the context of NF1. This focus aligns with wider public health priorities, including the United Nations (\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e) Sustainable Development Goal 3, which promotes good health and well-being, and the UK Government\u0026rsquo;s (\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e) vision for the first 1001 days, which emphasises seamless, early support for families. The inclusion of varied conception pathways (e.g., natural conception and PGT) also enriched the findings and increased representativeness, since these options are publicly funded in the UK.\u003c/p\u003e\u003cp\u003e\u003cb\u003eImplications for Practice\u003c/b\u003e\u003c/p\u003e\u003cp\u003e Participants described mixed experiences with healthcare professionals and services, who were both valued sources of support and, at times, contributors to stress, particularly when communication was inconsistent. Clear and accessible communication about NF1 is therefore essential to support informed choices. Enhancing coordination and information sharing between professionals, including through integrated digital systems, could improve continuity of care and help patients feel more supported. Notably, participants consistently valued the role of NF specialists, suggesting that this UK-based model of care may offer a transferable example for other health systems.\u003c/p\u003e\u003cp\u003eThe emotional impact of pregnancy in the context of genetic uncertainty was evident across participants. Yet only one parent reported accessing therapy, which helped with feelings of guilt. This highlights the importance of routine psychological support within prenatal care for families facing an increased likelihood of a genetic condition.\u003c/p\u003e\u003cp\u003eFinally, in the context of NF1, where uncertainty about a child\u0026rsquo;s future can complicate emotional connection during pregnancy, structured interventions like Baby Triple P (\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e), which has been adapted for antenatal settings, could help parents build confidence, regulate anxiety, and strengthen early bonding.\u003c/p\u003e\u003cp\u003e\u003cb\u003eImplications for Future Research\u003c/b\u003e\u003c/p\u003e\u003cp\u003eAlthough this study focused primarily on the pregnancy period and early bonding, it also offered insights into experiences with reproductive technologies. The psychological and social implications of using options such as PGT for NF1 can be explored further. Longitudinal qualitative studies can further explore how expectant parents\u0026rsquo; experiences evolve during and after pregnancy, particularly in terms of their psychological adjustment and changing representations of their child. Finally, our participant group included diverse social identities, such as solo parenthood, involvement with social services, and specific cultural backgrounds. Future research should explore how these intersecting identities shape experiences of NF1 in pregnancy.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eTo our knowledge, this is the first study to explore the lived experiences of expectant parents with NF1. These findings highlight the emotional complexity of pregnancy for expectant parents with NF1, showing how genetic uncertainty can disrupt early emotional connection with the unborn child, and revealing limitations in standard care models and the need for more psychologically responsive support.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eData Availability Statement:\u0026nbsp;\u003c/strong\u003eThe data used in this study can be available from the corresponding author on reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements:\u0026nbsp;\u003c/strong\u003eWe would like to thank Nerve Tumours UK and Manchester University NHS Foundation Trust for their support with participant recruitment, and to expectant parents for their participation.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor Contributions:\u003c/strong\u003e GK conceived and designed the study, acquired the data, performed the analysis, interpreted the results, and drafted and revised the manuscript. DMS conceived and designed the study, supervised data collection and analysis, contributed to the interpretation of the results, and revised the manuscript. MWW contributed to the study conception, provided supervisory input, and revised the manuscript. HS contributed to data collection and revised the manuscript. EBW contributed to participant recruitment and data collection, and revised the manuscript. SG was the principal supervisor of the study, contributed to its conception and design, participated in data collection and recruitment, and revised the manuscript. All authors approved the final version of the manuscript and agreed to be accountable for all aspects of the work.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding/Support:\u003c/strong\u003e This research was supported by the NIHR Manchester Biomedical Research Centre (NIHR203308). The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.\u0026nbsp;Gamze Kaplan is a PhD student, and their study was supported by the Republic of T\u0026uuml;rkiye Ministry of National Education. HS undertaking a PhD Fellowship funded by the Christie Charity. The funders had no role in the design of the study nor interpretation of its findings.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthical approval:\u003c/strong\u003e NHS ethical approval was granted by the Northwest Greater Manchester West Research Ethics Committee (REC reference: 21/NW/0346).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting Interests:\u0026nbsp;\u003c/strong\u003eWe have no conflict of interest to disclose.\u0026nbsp;\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eFriedman JM. Neurofibromatosis 1. In: GeneReviews [Internet]. 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J Genet Couns. 2023;32(1):31\u0026ndash;42.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eBrashers DE. Communication and Uncertainty Management. J Commun. 2001;51(3):477\u0026ndash;97.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eBenjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L. Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet. 1993;30(7):567\u0026ndash;74.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eBraun V, Clarke V. Successful qualitative research: a practical guide for beginners. Sage Publications; 2013.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eBhaskar R. Critical realism and the ontology of persons. J Crit Realism. 2020;19(2):113\u0026ndash;20.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eBraun V, Clarke V. Thematic analysis: a practical guide. Sage Publications;\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eHan PKJ, Babrow A, Hillen MA, Gulbrandsen P, Smets EM, Ofstad EH. Uncertainty in health care: Towards a more systematic program of research. Patient Educ Couns. 2019;102(10):1756\u0026ndash;66.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eDiPietro JA. Psychological and psychophysiological considerations regarding the maternal\u0026ndash;fetal relationship. Infant Child Dev. 2010;19(1):27\u0026ndash;38.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eRichter L, Slemming W, Norris SA, Stein A, Poston L, Pasupathy D. Health Pregnancy, Healthy Baby: testing the added benefits of pregnancy ultrasound scan for child development in a randomised control trial. Trials. 2020;21(1):25.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eHammond J, Klapwijk JE, Hill M, Lou S, Ormond KE, Diderich KEM, et al. Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han\u0026rsquo;s taxonomy of uncertainty. J Genet Couns. 2021;30(1):198\u0026ndash;210.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eRaspa M, Kutsa O, Andrews SM, Gwaltney AY, Mallonee E, Creamer A, et al. Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening. Eur J Hum Genet. 2024;32(4):392\u0026ndash;8.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eKaplan G, Garg S, Smith DM, Begum-Ali J, Jones EJH, Green J, et al. Parent-infant interaction in the context of emerging neurodiversities: Neurofibromatosis 1 and elevated likelihood of ADHD. Infant Behav Dev. 2025;79:102036.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eGuyon-Harris KL, Carell R, DeVlieger S, Humphreys KL, Huth‐Bocks AC. The emotional tone of child descriptions during pregnancy is associated with later parenting. Infant Ment Health J. 2021;42(5):731\u0026ndash;9.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eTambelli R, Odorisio F, Lucarelli L. Prenatal and postnatal maternal representations in nonrisk and at-risk parenting: exploring the influences on mother-infant feeding interactions: Prenatal and postnatal maternal representations. Infant Ment Health J. 2014;35(4):376\u0026ndash;88.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eHickerton CL, Aitken M, Hodgson J, Delatycki MB. \u0026ldquo;\u003cem\u003eDid you find that out in time\u003c/em\u003e ?\u0026rdquo;: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet A. 2012;158A(2):373\u0026ndash;83.\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eTransforming our world: The 2030 Agenda for Sustainable Development. [Internet]. United Nations; 2015. Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://sdgs.un.org/2030agenda\u003c/span\u003e\u003cspan address=\"https://sdgs.un.org/2030agenda\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eHM Government. The best start for life: a vision for the 1,001 critical days. [Internet]. Department of Health and Social Care.; 2021. Available from: \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://www.gov.uk/government/publications/the-best-start-for-life-a-vision-for-the-1001-critical-days\u003c/span\u003e\u003cspan address=\"https://www.gov.uk/government/publications/the-best-start-for-life-a-vision-for-the-1001-critical-days\" targettype=\"URL\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003cli\u003e\u003cspan\u003eTriple P for baby. Triple P International Pty Ltd; 2023.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"},{"header":"Footnotes","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003e The \"IVF path\" refers to the use of IVF in combination with preimplantation genetic testing (PGT). This process involves creating embryos through IVF and genetically testing them for the condition before implantation. See: Genomics Education Programme \u0026ndash; Preimplantation Genetic Testing\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"reproductive decision-making, NF1, pregnant","lastPublishedDoi":"10.21203/rs.3.rs-7041890/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7041890/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003ePregnancy in the context of Neurofibromatosis type 1 (NF1) may be emotionally complex due to uncertainties surrounding inheritance and the condition’s variable presentation. This study aimed to explore how expectant parents with NF1 experience pregnancy and relate to their unborn child. Fourteen participants took part in individual semi-structured interviews, and data were analysed using reflexive thematic analysis. Participants described how decisions around conception and genetic testing were influenced by personal and medical history, perceived severity of NF1, and concerns about potential impact on their child. Participants described how ongoing uncertainty contributed to feelings of anxiety, guilt, and emotional restraint, which they managed through internal strategies such as seeking reassurance, information, and acceptance, as well as through external support networks. Notably, internal representations of the unborn child were often shaped by emotional ambivalence and protective distancing. In a condition like NF1, where uncertainty may complicate prenatal bonding, adapting psychological interventions that have been used antenatally to promote early bonding and support later parenting outcomes could help strengthen emotional wellbeing and the developing parent-infant relationship.\u003c/p\u003e","manuscriptTitle":"Pregnancy experiences of expectant parents with Neurofibromatosis type 1: A qualitative interview study","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-25 06:35:04","doi":"10.21203/rs.3.rs-7041890/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"revise","date":"2026-01-08T13:56:33+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-12-28T19:27:15+00:00","index":3,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-12-12T09:09:49+00:00","index":3,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-09-03T19:44:12+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-07-31T16:40:12+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-07-22T13:50:49+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2025-07-22T13:46:17+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-07-08T12:55:09+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-07-04T00:56:17+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2025-07-04T00:56:16+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"f6f21448-b5d1-4405-87aa-69affc6e6be2","owner":[],"postedDate":"July 25th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":51937812,"name":"Health sciences/Health care/Quality of life"},{"id":51937813,"name":"Scientific community and society/Social sciences/Psychology/Human behaviour"},{"id":51937814,"name":"Health sciences/Health care/Health services/Genetic services/Genetic counselling"}],"tags":[],"updatedAt":"2026-04-23T07:05:30+00:00","versionOfRecord":{"articleIdentity":"rs-7041890","link":"https://doi.org/10.1038/s41431-026-02099-6","journal":{"identity":"european-journal-of-human-genetics","isVorOnly":false,"title":"European Journal of Human Genetics"},"publishedOn":"2026-04-22 04:00:00","publishedOnDateReadable":"April 22nd, 2026"},"versionCreatedAt":"2025-07-25 06:35:04","video":"","vorDoi":"10.1038/s41431-026-02099-6","vorDoiUrl":"https://doi.org/10.1038/s41431-026-02099-6","workflowStages":[]},"version":"v1","identity":"rs-7041890","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7041890","identity":"rs-7041890","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}