More than an X-ray: Experiences and perspectives of parents of children with cerebral palsy when engaging in hip surveillance.

AIM: We explored the experiences of parents of children with cerebral palsy (CP) when engaging in hip surveillance for their child and aimed to identify the barriers and facilitators they encounter. METHODS: We conducted a pragmatic qualitative study through five focus groups conducted with 23 parents and primary care givers of young people with cerebral palsy. A semi-structured topic guide was used to facilitate discussion. Recordings were transcribed verbatim and transcripts analysed using content analysis. RESULTS: Six major categories emerged: (i) hip surveillance is a shared responsibility; (ii) knowledge is empowering; (iii) hip surveillance should be proactive rather than reactive; (iv) consistency and support from health professionals is valuable; (v) good communication is crucial; and (vi) challenges associated with having an X-ray may not be appreciated. Participants made recommendations related to: service model enhancements, information provision and improving both communication and the experience of having an X-ray. CONCLUSION: Despite having a good understanding of the need and importance of hip surveillance for their child, several barriers to parent engagement exist. Findings will inform the implementation of a family-centred model for hip surveillance and may be relevant to those undertaking or planning the implementation of hip surveillance in other areas.

Continuing a pregnancy after diagnosis of a lethal fetal abnormality: Views and perspectives of Australian health professionals and parents.

BACKGROUND: Couples who receive a prenatal diagnosis of a fetal anomaly in Victoria, Australia, are generally offered a choice about whether or not to continue with the pregnancy. When a severe or 'lethal' abnormality is diagnosed, some couples decide to continue the pregnancy in the knowledge that their baby may die before or shortly after birth. Several Australian parents who published personal accounts of that experience describe a lack of clear clinical pathways, suggesting those who decide to continue a pregnancy following a diagnosis of a 'lethal fetal abnormality' (LFA) may not be receiving optimal care. AIMS: This study aimed to provide empirical Australian evidence of views and experiences of care provision from health professionals (HPs) and parents. MATERIALS AND METHODS: Two sequential phases of this qualitative study purposively recruited a range of key HPs and parents. Semi-structured interviews were thematically analysed. RESULTS: Findings reveal that current care provision following prenatal diagnosis of an LFA is 'ad hoc' with both participant groups identifying disparities between parents' needs and available care. However, the goodwill and good intentions of all HPs involved was apparent. There was strong support from both groups for considering a model of perinatal palliative care (PPC) based on existing programs overseas. CONCLUSIONS: Future care provision in this setting needs to be redefined. A formal PPC program could ensure better and more consistent experiences of support for parents as well as the HPs working in the field.

Health professionals' experiences and barriers encountered when implementing hip surveillance for children with cerebral palsy.

AIM: This study aimed to explore health professionals' experiences of implementing hip surveillance for young people with cerebral palsy (CP) and to identify any barriers they encounter. METHODS: A cross-sectional web-based survey of health professionals supporting children with CP was conducted. Responses were analysed through mixed methods. Responses to items presented as ordinal scales were analysed using descriptive statistics, and open-ended responses through a qualitative approach to identify themes. RESULTS: A total of 32 paediatricians, 2 rehabilitation specialists and 50 physiotherapists completed the survey, with respondents working within both hospital- and community-based settings. Barriers most frequently reported were inconsistency in radiology practice and reporting (35%), parent engagement (32%), limited communication between clinicians (31%), lack of clarity in lines of responsibility (27%) and forgetting to undertake surveillance (26%). Four major themes were identified through qualitative analysis: (i) recognition of the importance of clinical guidelines to hip surveillance; (ii) the value of each role in the team around a child; (iii) the challenge of sharing responsibility; and (iv) the importance of communication in facilitating collaboration. CONCLUSIONS: Barriers can be encountered at each phase of the hip surveillance process, but there are also factors that act as facilitators. Locally, the results will inform the development of an enhanced state-wide approach to hip surveillance for all children with CP. The identified barriers do not appear unique to the local context, and the findings may be transferable to other settings. Awareness of the potential barriers and facilitators would be valuable to those implementing hip surveillance in other areas.

Caring for crying babies: A mixed-methods study to understand factors influencing nurses' and doctors' management of infant colic.

AIM: The aim of this study was to determine the barriers and enablers influencing the uptake of two recommendations from a tertiary paediatric hospital's clinical practice guidelines by maternal and child health nurses (MCHNs) and emergency department (ED) doctors: (i) explaining normal crying; and (ii) avoiding attributing crying to gastro-oesophageal reflux (GOR) and limiting anti-reflux medication use. METHODS: The study was designed as 1-h focus group discussions, guided by the Theoretical Domains Framework, and a short questionnaire, with a purposive sample of MCHNs and ED doctors in Victoria, Australia in (March to September) 2015. Analyses were conducted by inductive content analysis to identify key barriers and enablers. RESULTS: A total of 53 MCHNs and 25 ED doctors participated in 11 discussions. For explaining normal crying, key enablers were: adequate experience/competency, perceiving it was their role to explain and belief it prevented over-medicalisation. The main barriers were time restriction and beliefs about parents' perceptions. For MCHNs, key barriers to avoid attributing crying to GOR were: lack of knowledge and confusion around their role in diagnosing GOR. For ED doctors, key barriers to limiting anti-reflux medication were: parents requesting medication, concern about disrupting the parent-primary-care practitioner relationship and belief it was not their role to cease anti-reflux medication. CONCLUSIONS: Overall, MCHN and ED doctors were proficient in describing normal crying. However, several barriers to best practice were identified, including time constraints and belief about consequences of intervening. These results will be used to develop effective interventions to address the identified barriers and enablers to optimise the management of infant colic.

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.

BACKGROUND: Gamete and embryo donors undergo genetic screening procedures in order to maximise the health of donor-conceived offspring. In the era of genomic medicine, expanded genetic screening may be offered to donors for the purpose of avoiding transmission of harmful genetic mutations. The objective of this study was to explore the attitudes of donors and recipients toward the expanded genetic screening of donors. METHODS: Qualitative interview study with thematic analysis, undertaken in a tertiary fertility centre. Semi-structured in-depth qualitative interviews were conducted with eleven recipients and nine donors from three different cohorts (sperm, egg and embryo donors/recipients). RESULTS: Donors and recipients acknowledged the importance of genetic information and were comfortable with the existing level of genetic screening of donors. Recipients recognised some potential benefits of expanded genetic screening of donors; however both recipients and donors were apprehensive about extended genomic technologies, with concerns about how this information would be used and the ethics of genetic selectivity. CONCLUSION: Participants in donor programs support some level of genetic screening of donors, but are wary of expanding genetic screening beyond current levels.

Embodied experiences of prenatal diagnosis of fetal abnormality and pregnancy termination.

Pregnant women routinely undergo prenatal screening in Australia and this has become a common experience of motherhood. When prenatal screening or prenatal testing results in diagnosis of a serious fetal abnormality, women are presented with a decision to continue or terminate their pregnancy. Few recent studies have explored women's psychosocial experience of prenatal diagnosis and pregnancy termination for fetal abnormality, and within this small group of studies it is rare for research to consider the embodied aspect of women's experiences. This paper reports on qualitative findings from in-depth interviews with 59 women in Melbourne, Australia who received a prenatal diagnosis of a significant abnormality and decided to terminate the pregnancy. Interview transcripts were coded inductively through thematic analysis. Two themes about embodiment were generated from the interviews: transitioning embodiment, and vulnerable bodies in un/comfortable spaces. Theory of pregnant embodiment was drawn on in interpreting women's narratives. Recommendations arising from the analysis include health professionals recognising, acknowledging and accommodating the transitioning embodied state of women as they consider, prepare for, undergo and recover from pregnancy termination for fetal abnormality. Further recommendations address the connections and disconnections between this transitioning embodied state and the spaces of clinics, hospitals and home.

Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study.

BACKGROUND: Advances in genetic technologies and ultrasound screening techniques have increased the ability to predict and diagnose congenital anomalies during pregnancy. As a result more prospective parents than ever before will receive a prenatal diagnosis of a fetal abnormality. Little is known about how Australian women and men experience receiving a prenatal diagnosis and how they make their decision about whether or not to continue the pregnancy. AIMS: This qualitative study aims to describe parental experiences and examine how best to provide support after a prenatal diagnosis. RESULTS: Individual in-depth interviews were conducted with 102 women and men approximately six weeks post-diagnosis of fetal abnormality. Data were elicited using a narrative, chronological approach and women (n = 75) and a sample of male partners (n = 27) were separately interviewed. Thematic analysis, involving a rigorous process of qualitative coding, enabled iterative development and validation of emergent themes. Participants identified that the shock of the diagnosis can be lessened when good care is delivered, by provision of: clear, accurate and respectful communication; empathic, non-judgemental, professional support; timely access to further testing and appointments; seamless interactions with services and administration; appropriate choices about invasive testing; acknowledgment of the enormity and unexpected nature of the diagnosis, and of the subsequent decision-making challenges; and discussion of the myriad feelings likely to emerge throughout the process. CONCLUSIONS: This study has demonstrated the importance of providing timely access to accurate information and supportive, non-judgemental care for women and their partners following prenatal diagnosis of a fetal abnormality.

"Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.

A population-based CF carrier screening program was implemented in Victoria, Australia in 2006. This study explored the experiences of couples when both partners were identified as CF carriers. Between January 2006 and December 2010, 10 carrier couples were identified and invited to undertake a semi-structured interview. Nine interviews were conducted, seven couple interviews and two individual interviews. One couple declined to participate due to the recent termination of an affected pregnancy. Interviews were analyzed using inductive content analysis. All couples experienced surprise on learning their carrier couple result. The couples who were pregnant at the time of screening chose to have prenatal diagnosis, with the majority considering it to be the "next step." The two couples who had an affected pregnancy reported feelings of devastation and grief upon receiving their prenatal diagnosis result and terminated the pregnancy. All carrier couples were offered free genetic counseling, with only one couple declining the offer. Couples were unprepared for a positive carrier couple result. However, all the couples changed their reproductive behavior as a result of their carrier status. The results of this study have been used to inform the program and service offered to CF carrier couples particularly with respect to genetic counseling for reproductive decision making.

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention.

BACKGROUND: Genetic information given to an individual newly diagnosed with a genetic condition is likely to have important health implications for other family members. The task of communicating with these relatives commonly falls to the newly diagnosed person. Talking to relatives about genetic information can be challenging and is influenced by many factors including family dynamics. Research shows that many relatives remain unaware of relevant genetic information and the possible impact on their own health. This study aims to evaluate whether a specific genetic counselling intervention for people newly diagnosed with a genetic condition, implemented over the telephone on a number of occasions, could increase the number of at-risk relatives who make contact with genetics services after a new genetic diagnosis within a family. METHODS: This is a prospective, multi-centre randomised controlled trial being conducted at genetics clinics at five public hospitals in Victoria, Australia. A complex genetic counselling intervention has been developed specifically for this trial. Probands (the first person in a family to present with a diagnosis of a genetic condition) are being recruited and randomised into one of two arms - the telephone genetic counselling intervention arm and the control arm receiving usual care. The number of at-risk relatives for each proband will be estimated from a family pedigree collected at the time of diagnosis. The primary outcome will be measured by comparing the proportion of at-risk relatives in each arm of the trial who make subsequent contact with genetics services. DISCUSSION: This study, the first randomised controlled trial of a complex genetic counselling intervention to enhance family communication, will provide evidence about how best to assist probands to communicate important new genetic information to their at-risk relatives. This will inform genetic counselling practice in the context of future genomic testing. TRIAL REGISTRATION: Australia and New Zealand Clinical Trials Register (ANZCTR): ANZCTRN12608000642381.

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features.

The present study aims to provide insight into the interactions between clinical geneticists and parents of children with dysmorphic features during syndrome assessment. Seven families attending a dysmorphology clinic for syndrome assessment consented to have their consultation recorded and transcribed verbatim. Content and discourse analyses were used to study the language and communication patterns of problematic and challenging sections of the consultations, primarily sections concerning the child's appearance and diagnosis which were marked by dysfluency and hesitation, indicators of problematic communication. Findings revealed that the clinical geneticists used a range of communicative strategies when discussing a child's appearance, such as comparing the child's features with those of parents or other individuals and minimizing differences. In doing so they displayed an orientation to the "face-threatening" nature of this communicative task. While geneticists discussed the child's appearance in an extremely sensitive manner, parents tended to describe their child's appearance using direct and objective language. These findings provide novel insight into the complexity of syndrome assessment consultations in a dysmorphology clinic. We suggest that parents may be seeking a more open discussion of their child's appearance, and clinician engagement with this may prove a more effective communication strategy than those currently employed, while remaining sensitive to parents' responses to such a discussion. At the start of the consultation it is important to give parents the opportunity to voice their concerns and expectations, and to explain to parents that a diagnosis may not be reached.

A genetic counseling intervention to facilitate family communication about inherited conditions.

This paper describes the development and implementation of the first intervention to facilitate family communication of genetic information based on a genetic counseling model of practice. The intervention is telephone-based and therefore designed to complement face-to-face genetic counseling consultations. It was developed by firstly reviewing the literature and a model of genetic counseling practice, leading to definition of seven core principles underpinning the intervention. A counseling framework based on these principles was developed through iterative role playing and review, tested for consistency with good practice and piloted on ten study participants. It was found to be feasible to implement and consistent with good genetic counseling practice. Implementation included training of the genetic counselors who would deliver the intervention as part of a randomized controlled trial. Noteworthy deviations from good genetic counseling practice were observed, with unexpected additional insights into the 'black box' of genetic counseling that may have wider implications and would benefit from further investigation. The intervention is currently being evaluated in a randomized controlled trial, to assess its impact on the number of family members attending genetic services.

Hearing Screening for Congenital CytoMegaloVirus-Exploring Parents' Experiences of Completing Targeted Congenital Cytomegalovirus Screening at the Time of Their Infants' Newborn Hearing Screening.

Background/Objectives: Congenital cytomegalovirus (cCMV) is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disabilities, with prompt detection (<21 days of life) required to enable accurate diagnosis and anti-viral treatment where clinically appropriate. International guidelines recommend cCMV screening for infants who do not pass their Universal Newborn Hearing Screening (UNHS). This study aimed to explore parental experiences of targeted cCMV screening through the UNHS in Victoria, Australia between 2019 and 2020 (HearS-cCMV study). Methods: A qualitative study comprising 18 semi-structured interviews with parents who took saliva swabs from their infants who did not pass their UNHS. A maximum variation sampling strategy was used with data analysed using thematic analysis. Results: Four themes described 18 parents' experiences of cCMV screening: (1) parents' lack of CMV awareness prior to cCMV screening; (2) overall positive experience; (3) varied understanding of CMV post screening; and (4) parents were glad to screen their infant for cCMV. Enablers of targeted cCMV screening included the swab being simple and non-invasive, being easier to complete in the hospital than at home, and the screening being well delivered by the staff. Barriers included a potential increase in anxiety, especially with false positives, and the timing of cCMV screening coinciding with their infant not passing UNHS being difficult for some parents. Conclusions: Parent experiences of targeted cCMV screening were positive. Increasing public knowledge of cCMV and training staff members to complete the CMV swab would reduce the risk of false positives and associated parental anxiety. This would facilitate successful routine targeted cCMV screening.

"Taking its toll": the challenges of working in fetal medicine.

BACKGROUND: Advances in genetic technologies have resulted in the diagnosis during pregnancy of increasing numbers of fetal abnormalities. A few published personal commentaries have indicated that health professionals' interactions with couples at risk of a fetal abnormality can be emotionally and ethically challenging, highlighting the need for empirical research in this area. This study sought to explore whether working in the fetal medicine setting has an effect on health professionals and to ascertain any supports used to manage these effects. METHODS: In-depth interviews were conducted with 40 medical and allied health professionals working in fetal medicine settings in Melbourne, Australia. Qualitative analysis of the interview data was performed using thematic analysis. RESULTS: Participants discussed at length the emotional impact of working with patients who were experiencing adverse pregnancy outcomes. All participants reported that working in fetal medicine had an impact on their daily lives, and many spoke about dreaming about or losing sleep over patient outcomes. Participants described working in this setting as being particularly difficult when they were pregnant themselves. Most spoke about feeling largely unsupported in their work and felt that these effects resulted in burnout and staff turnover. CONCLUSIONS: This study explored several work force concerns in fetal medicine. Health professionals working with couples at risk of a fetal abnormality are vulnerable to the phenomena of compassion fatigue and burnout. The need for formal support and self-care management is suggested.

Enhancing family communication about genetics: ethical and professional dilemmas.

When a new genetic condition is diagnosed within a family, genetic counselors often describe a sense of responsibility towards other at risk family members to be appropriately informed about their status. Successful communication of genetic information in families is contingent on many factors. While a small number of probands directly state their intention not to inform their relatives, many who do intend to communicate this information appear to be unsuccessful for a wide range of reasons and may benefit from follow up support from a genetic counselor. Drawing on the reciprocal-engagement model (REM) of genetic counseling practice we explore how enhancing family communication about genetics raises a number of ethical and professional challenges for counselors-and describe how we resolved these. A subsequent manuscript will describe the counseling framework we have developed to enhance family communication about genetics.

Educating genetic counselors in Australia-developing a masters program.

In 2005 a publication about genetic counseling training in Australia recommended that a 2 year Masters program be established to better equip Australian genetic counselors with increased clinical skills and genetic knowledge (Sahhar et al. Journal of Genetic Counseling, 14(4), 283-294, 2005). A 2 year Masters program, it was argued, would increase the possibility of international reciprocity, thus increasing the employment opportunities for Australian trained genetic counselors overseas. In 2008 the first 2 year professional Masters program in Australia began at the University of Melbourne. The model for how this was achieved is discussed, along with the impact of the competencies developed by the Human Genetics Society of Australasia (Australia and New Zealand), on program evolution, teaching styles and clinical supervision. The principal challenges in developing the Masters program are explored and initiatives specific to SE Asia are discussed.

"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.

The availability of tests to detect genetic conditions prenatally has expanded considerably in recent decades. These advances allow women and couples choices; the choice of whether or not to undergo prenatal screening or diagnosis and therefore the choice whether to continue or terminate a pregnancy. Following prenatal testing many people choose to terminate an affected pregnancy, however little is known about the experiences of parents who choose to continue such a pregnancy. This exploratory qualitative study involved in-depth interviews with five mothers and four fathers who experienced a pregnancy where a genetic diagnosis was, or could have been, detected prenatally. Transcripts of the interviews were analyzed using thematic analysis. While the participants' experiences of genetic diagnoses and prenatal choices varied, findings revealed three major categories triggering new life trajectories for all of these parents: knowledge of reproductive risk and receiving a genetic diagnosis; adapting to diagnosis and new life path; and attitudes to prenatal diagnosis and disability. Parents reported that while dealing with their own attitudes and getting on with their "new world," positive and negative attitudes of others impacted on these parents' experiences. A conceptual model arising from the major themes is offered as a way of thinking about this paradigm. Parents who continue a pregnancy where a genetic condition is detected or suspected prenatally, can be supported appropriately by health professionals while adjusting to their new life path.

Talking about disability in prenatal genetic counseling: a report of two interactive workshops.

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for--many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors' perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants' knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.

Commentary: how individual and profession-level factors influence discussion of disability in prenatal genetic counseling.

Hodgson and Weil (Journal of Genetic Counseling, 2011) reports on two interactive workshops in which genetic counselors identified a broad set of counseling issues that may be impediments to promoting an adequate discussion of disability in prenatal genetic counseling. The present commentary discusses two factors that we infer underlie these counseling issues. First, countertransference concerning disability, which is normal and expected, may influence genetic counselors' decisions about raising and exploring the complex topic of disability in prenatal genetic counseling. Second, the limited involvement of the profession of genetic counseling in the complex social and ethical issues of disability provide little guidance to the individual genetic counselor with respect to discussing disability in prenatal diagnosis counseling. We suggest both factors must be acknowledged and addressed in order to adequately implement the recommendations presented in Hodgson and Weil (Journal of Genetic Counseling, 2011) as well as other efforts to increase discussion of disability in prenatal diagnosis counseling in the service of informed decision making.

Drawing attention to difference: dilemmas in discussing dysmorphism with parents.

Dysmorphism is a sensitive topic to discuss with parents. Discussing dysmorphism requires careful thought, awareness of parent reactions, practice and reflection. Clinical practice suggests that barriers exist for both parents and health professionals, which make these discussions challenging. Here, we explored the challenges inherent in dialogue about dysmorphism and offer suggestions for communication strategies that are grounded in both theory and practice.

"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

Prenatal genetic counselors work with clients who are at risk of having a child with a fetal anomaly, or who have been diagnosed with a fetal anomaly. This can raise challenging ethical, moral and legal issues for both clients and counselors. Few studies have explored whether this type of work impacts on genetic counselors themselves. Interviews were conducted with 15 prenatal genetic counselors, five from Toronto, Canada and ten from Melbourne, Australia. A qualitative approach was used to allow for an in-depth exploration of the experiences of genetic counselors working in the prenatal setting. While participants reported that working in a prenatal setting affected them in several ways, this paper focuses on one particular unanticipated finding--that of the impact experienced by counselors from both countries while working when pregnant.