Riggan, Kirsten A.

Uterine fibroids are noncancerous tumors associated with significant morbidity among symptomatic patients. While medical and surgical treatments have expanded, hysterectomy remains common. We interviewed women diagnosed with uterine fibroids ( n = 47) to explore their experiences and recommendations for shared decision-making. A majority were non-Hispanic Black, highly educated (51.1%), and had graduate degrees (40.4%). Participants with both positive and negative provider experiences expressed a desire for a more proactive therapeutic approach, including a presentation by their provider of the spectrum of medical and surgical treatment options, and greater provider recognition of the impact of symptoms on quality of life. Women advocated for expanded shared decision-making that acknowledged their contribution to their own treatment plan and felt early screening and improved patient/provider education of uterine fibroid symptoms would facilitate greater congruence between treatment approaches and patient goals. Perceptions of insufficient input into their treatment plans frequently served as a barrier to care-seeking and treatment acceptance among women with uterine fibroid symptoms. Improved discussion of treatment options in the context of the unique symptom burden and values of the patient may facilitate greater provider trust and acceptance of uterine fibroid treatment.

AbstractSex chromosome aneuploidies (SCAs) occur in 1 in every 400 births. SCAs are highly variable and have uncertain prognoses, complicating the delivery of prenatal cell‐free DNA (cfDNA) results or diagnosis following amniocentesis or chorionic villus sampling. Using a mixed‐methods approach, we explored the experiences of parents receiving a prenatal diagnosis of a fetus with SCA. Responses to open‐ended questions were qualitatively analyzed. Of the 323 parents who completed the survey, 122 received a prenatal diagnosis and answered at least one open‐ended question. Most parents did not recall being informed that cfDNA screening or amniocentesis could reveal the presence of a SCA prior to testing and described feeling unprepared for a positive result. Variation was found between parents who were delivered a diagnosis by a genetic professional versus other clinical specialties. Many parents expressed that the diagnosis was delivered in a way that emphasized the negative attributes of the SCA and that they were provided limited support materials. Parents who received a prenatal diagnosis of a SCA expressed a desire for more supportive delivery of prenatal diagnosis that focuses on parental education and nuanced discussion of potential phenotypes. Genetic counselors should be aware of the range of parental experiences when receiving a SCA diagnosis from non‐genetic providers. Prenatal SCA diagnoses are predicted to increase as prenatal cfDNA screening becomes more widely used. Collaborations for greater provider education and comprehensive materials on SCAs are essential to facilitate the delivery of SCA diagnoses and improve parent understanding and support.

ABSTRACT: Objective: Owing to fragmentation in the medical system, many parents of children with disabilities report taking on a care coordinator and advocate role. The parental advocacy and care coordination requirements are further amplified in this population because of a lack of awareness about sex chromosome aneuploidies (SCAs) in medical and social services settings, as well as the complex needs of affected children. This burden disproportionately affects mothers and low-resource families as a result of gendered ideas of parenthood and social stratification in resource access. The aim of this study is to understand the unique parental burdens of SCAs and family support needs. Methods: We conducted 43 interviews with individuals with SCAs and/or their parents and qualitatively coded and analyzed the transcripts for themes relating to parent advocacy, medical services, social and educational services, and coping. Results: Our findings indicate that parents must repeatedly advocate for their concerns about their child to be taken seriously before diagnosis and continue to advocate for services and interventions throughout childhood and adolescence. Parents also report the need to educate health care professionals about their child's medical condition. A majority of the parent participants were women, and single mothers reported high levels of emotional burden. Conclusion: Parents of children with SCAs shoulder additional roles of medical advocate and care coordinator. This causes excessive burden on families but also disadvantages families in which parents are unable to act as an advocate for their child.

INTRODUCTION: Adverse patient events inevitably occur in OB/GYN practice. Health care provider who are “second victims” experience psychological trauma and progress through defined stages of recovery as they process the event. This experience is believed to be an under-recognized, yet prevalent phenomenon. Study aims were to determine the prevalence of second victims and the risk factors for feeling like a second victim among staff caring for OB/GYN patients to guide the implementation of new resources for second victims. METHODS: We administered the validated Second Victim Experience and Support Tool (SVEST) supplemented with non-validated questions to multidisciplinary team members caring for OB/GYN patients at Mayo Clinic in Rochester, MN. Respondents to the self-administered, anonymous survey included physicians, nurse practitioners, physician assistants, certified nurse midwife, registered nurses, allied health professionals, and desk staff. RESULTS: The survey was completed by 205 staff (117 OB only, 73 GYN only, 15 both). During their career, 44.8% felt like a second victim while 18.8% had this experience in the last 12 months. Residents and fellows had the highest percentage of second victims (41.7%). Respondents who reported greater psychological distress were more likely to report that they felt like a second victim after an adverse patient safety event within the preceding 12 months (p-value<0.001). The same finding was observed for measures of physical distress. CONCLUSION: OB/GYN team members report significant differences in physiological and physical symptoms after adverse events. Understanding and screening for psychological and physical symptoms may be useful in identifying second victims and guiding support following adverse events.

AbstractThe most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the increasing use of genetic testing in clinical care has increased the prenatal and postnatal diagnosis of SCAs. These genetic tests are frequently ordered by nongenetic providers who are also responsible for delivering the diagnosis. We surveyed parents of children (n = 308) to evaluate their experience of receiving a diagnosis and their support needs. The majority (73.3%) received the diagnosis from a nongenetic medical provider. Following a prenatal diagnosis parents reported experiencing depression, anxiety, and less optimism than those receiving a postnatal diagnosis. Few parents reported receiving materials explaining their child's condition that they found to be up‐to‐date, accurate, and unbiased. The frequently negative reported experiences of parents at time of diagnosis suggests more educational opportunities should be provided for nongenetic providers in order to become more informed about these conditions and communicate the diagnosis in a way parents experience as supportive.

Abstract Researchers are investigating new technologies to mitigate or prevent symptoms of Down syndrome (DS), including chromosome silencing and pharmacotherapy. We surveyed parents of individuals with DS to assess their opinions on two hypothetical scenarios describing prenatal chromosome silencing and pediatric pharmacological intervention to improve neurocognition in children with DS. Although a slim majority of participants supported the availability of both therapies, respondent support was contingent on the risks presented, including the risk of miscarriage in the prenatal intervention and the impact of pharmaceuticals on their children's personality. Many parents expressed ambivalence, articulating a desire to improve their children's quality of life but requiring more safety and efficacy research before agreeing to a genetic or pharmacological intervention.

Abstract Researchers are exploring the use of gene-editing technologies to prevent and/or treat genetic conditions in humans. Stakeholder views, including those of patient and family populations, are important in the ongoing bioethical discussion. We conducted 27 semi-structured interviews with parents of people with trisomy 21 (T21; N = 10), trisomy 18 (T18; N = 8), and trisomy 13 (T13; N = 9)—conditions not previously studied in regard to attitudes toward hypothetical gene editing. While many discussions focus on the morality of gene editing, parents in our study focused on quality of life and concerns about changing their children's identity. All participants prioritized ameliorating life-threatening health issues when those were present; many also emphasized increasing their children's communication and cognitive ability. These results suggest that patient populations with the lived experience of genetic conditions have unique concerns that may differ from broader discourse.