Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022.

A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved. Four DS nonprofit organizations, which participated in the original study, distributed a mixed-methods survey to families who have had children with DS between 2003 and 2022. Quantitative analysis assessed correlations among responses and differences between the 2003 and 2022 survey groups. Open-ended responses were qualitatively analyzed. Compared to the 2003 findings, parents' perceptions of their postnatal care have not improved (N = 89). Parents are increasingly likely to report that their providers pitied them, omitted positive aspects of DS, and provided insufficient materials describing DS. Substantial proportions of parents reported fear (77%) and anxiety (79%), only 24% described receiving adequate explanatory materials, and parents were 45% likelier to report that physicians discussed negative aspects of DS than positive aspects. Qualitatively, substantial numbers of parents recounted insensitive conduct by providers. These results suggest that despite interventions, parents' experiences of postnatal diagnoses of DS have not improved over time. Certain provider behaviors-such as describing positive aspects of DS and providing comprehensive explanatory materials-can reduce fear and anxiety, pointing to directions for reform.

Through the eyes of Spanish-speaking patients, caregivers, and community leaders: a qualitative study on the in-patient hospital experience.

BACKGROUND: Spanish-speakers with non-English language preference and complex medical needs suffer disparities in quality of care, safety, and health outcomes. Communication challenges during prolonged hospitalizations for complex illnesses negatively influence how this group engages in their care and decision-making while hospitalized. Limited literature capturing the perspectives of Spanish-speaking patients in this context exists. Given the impact of language barriers on care and medical decision-making, this study documents the experiences of Spanish-speaking patients with NELP and hospitalized with complex care needs as well as caregivers and community leaders. METHODS: Using community-engaged recruitment strategies and semi-structured interviews and a focus group, we gathered insights from Spanish-speaking patients hospitalized for prolonged periods, caregivers, and community leaders from three geographic regions. Data were deidentified, transcribed, translated, coded in duplicate, and analyzed guided by grounded theory using NVivo. RESULTS: We interviewed 40 participants: 27 patients, 10 caregivers and 3 community leaders. We identified four major themes: (1) Disconnected experiences impeding interactions, communication, and decision-making (2) Inadequate interpreter services (3) Benefits and consequences of family at the bedside (4) Community -informed recommendations. CONCLUSION: The study showed that in-person interpreters were preferred to virtual interpreters; yet interpreter access was suboptimal. This resulted in ad hoc family interpretation. Participants noted language negatively impacted patient's hospital experience, including decreasing confidence in medical decision-making. Recommendations from patients, caregivers, and community leaders included expanding interpreter access, bolstering interpreter quality and accuracy, and increasing resources for patient education.

Patient experiences with prenatal cell-free DNA screening in a safety net setting.

OBJECTIVES: Thirty-five states, including Florida, now cover cell-free DNA (cfDNA) screening of fetuses for all pregnant patients enrolled in state public insurance programs. We interviewed Black and Hispanic obstetric patients at a safety net clinic in Florida shortly after the state rolled out cfDNA as a first-tier screening method for publicly insured patients. METHODS: Black and Hispanic patients receiving prenatal care from a prenatal or maternal fetal medicine clinic at a federally qualified health center in Jacksonville, FL were invited to participate in a qualitative interview in English or Spanish to explore experiences and perceptions of prenatal cfDNA screening. Participants were recruited following their first prenatal visit when cfDNA is typically introduced. Interview transcripts were qualitatively analyzed for iterative themes based on principles of grounded theory. RESULTS: One hundred Black and Hispanic patients (n = 51 non-Hispanic Black, n = 43 Hispanic, n = 3 Hispanic Black, n = 3 Not Reported/Other) completed an interview. Participants described minimal opportunity for pre-screening counseling and limited health literacy about cfDNA or its uses. Some believed that cfDNA could positively impact pregnancy health. Many were unsure if they had received cfDNA even though they were aware of the information provided by it. Most participants expressed an interest in cfDNA as a means for early detection of fetal sex and as an additional indication of general fetal health. CONCLUSIONS: Patient experiences indicate limited informed consent and decision-making for cfDNA, discordant with professional guidelines on pre-screen counseling. Our findings suggest that there should be additional investment in implementing cfDNA in safety net settings to ensure that patients and providers receive the support necessary for effective patient counseling and follow-on care for the ethical implementation of cfDNA.

"In our community, we normalize pain": discussions around menstruation and uterine fibroids with Black women and Latinas.

BACKGROUND: Uterine fibroids are non-cancerous neoplasms that arise from the uterus affecting over 75% of women. However, there is a disparity with Black women having an increased prevalence of nearly 80%. Black women also experience increased symptom burden, including younger age at the time of diagnosis and increased number and volume of fibroids. Less is known about other ethnoracially diverse women such as Latinas and the potential cultural impacts on fibroid burden and treatment. METHODS: Community engagement studios were conducted to facilitate discussions with stakeholders on their uterine fibroid and menstruation experience. We recruited Black women (n = 6) diagnosed with uterine fibroids and Latinas (n = 7) without uterine fibroids. We held two virtual community engagement studios split by uterine fibroid diagnosis. The studios were not audio recorded and notes were taken by four notetakers. The notes were thematically analyzed in Atlas.ti using content analysis. RESULTS: Participants felt there was a lack of discussion around menstruation overall, whether in the home or school settings. This lack of menstruation education was pronounced when participants had their first menstruation experience, with many unaware of what to expect. This silence around menstruation led to a normalization of painful menstruation symptoms. When it came to different treatment options for uterine fibroids, some women wanted to explore alternative treatments but were dismissed by their healthcare providers. Many participants advocated for having discussions with their healthcare provider about life goals to discuss different treatment options for their uterine fibroids. CONCLUSION: Despite uterine fibroid diagnosis, there is silence around menstruation. Menstruation is a normal biological occurrence and needs to be discussed to help prevent delayed diagnosis of uterine fibroids and possibly other gynecological disorders. Along with increased discussions around menstruation, further discussion is needed between healthcare providers and uterine fibroid patients to explore appropriate treatment options.

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.

BACKGROUND: The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. METHODS: We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords "genetic diagnosis delivery," "genetic diagnosis disclosure," "sex chromosome aneuploidy," "Klinefelter syndrome" or ""47, XXY," "Jacob syndrome" or "47, XYY," "Trisomy X," "Triple X" or "47, XXX," and "48 XXYY from January 1, 2000, to October 31, 2023. RESULTS: Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis. CONCLUSION: Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.

Patient perceptions of body mass index restrictions limiting fertility care for women with high body mass index.

RESEARCH QUESTION: What is the patient experience of women with high body mass index (BMI) with BMI restrictions that limit fertility care? DESIGN: Qualitative study using in-depth, semi-structured interview methodology. Interview transcripts were analysed for iterative themes in accordance with principles of grounded theory. RESULTS: Forty women with a BMI of 35 kg/m2 or higher with scheduled or completed appointment at the Reproductive Endocrinology and Infertility (REI) clinic completed an interview. Most participants experienced BMI restrictions as unjust. Many perceived that BMI restrictions on fertility care may be medically justified and were in support of weight loss discussions to improve chances of pregnancy; however, several argued that they should have autonomy to commence treatment following an individualized risk assessment. Participants offered recommendations to improve discussion of BMI restrictions and weight loss, including framing the conversation as supportive of their reproductive goals and offering proactive referral to weight loss support to prevent the perception that BMI is a categorical exclusion to future fertility care. CONCLUSIONS: Participant experiences highlight a need for enhanced strategies for communicating BMI restrictions and weight loss recommendations in ways that are perceived to be supportive of patients' fertility goals without further contributing to weight bias and stigma experienced in medical settings. Opportunities for training to mitigate experiences of weight stigma may be beneficial for clinical and non-clinical staff. Evaluation of BMI policies should be undertaken within the context of clinic policies that permit or prohibit fertility care for other high-risk groups.

Influence of the COVID-19 pandemic on prenatal and postpartum patient experiences and well-being.

BACKGROUND: It has yet to be fully elucidated how differing populations of obstetric patients adapted to the disruptions in perinatal care and postpartum support from the COVID-19 pandemic. We surveyed an enriched sample of socioeconomically advantaged patients to understand the influence of COVID-19 on their perinatal care experience, well-being, and coping. METHODS: We surveyed pregnant and postpartum patients (n = 6140) at a large academic medical center in the Midwest of the United States using the Coronavirus and Perinatal Experiences instrument in Spring 2021. RESULTS: The survey was sent to 6141 pregnant and postpartum patients; 1180 (17.8%) respondents completed the survey, including 256 who were pregnant and 834 postpartum. Most pregnant patients experienced no changes in their prenatal care with 16.5% indicating somewhat worsened care. In the postpartum cohort, 37.5% stated their care had somewhat worsened. In describing influences on stress and mental health, 58.1% of postpartum respondents stated it was moderately, and 17.4% significantly, worse. The pandemic had a somewhat or moderately negative influence for 72.7% of respondents, with 11.0% stating these effects were extremely negative. Both cohorts characterized a range of coping strategies, most commonly, talking with friends and family (76.3%). CONCLUSION(S): Even among this sample of socioeconomically advantaged patients, respondents indicated that the pandemic disrupted many facets of their medical care and daily life, especially social activities and postpartum support. Our findings suggest that counseling on coping and adaptation strategies for stressors and increased health systems support be part of perinatal care during public health emergencies for all demographic groups.

Cancer Screening Experiences of Black Breast and Ovarian Cancer Patients and Family Members.

Black women experience disproportionate rates of advanced breast cancer diagnoses and mortality. Mammography is a proven and effective tool in early breast cancer detection and impacts patient outcomes. We interviewed Black women with a personal or family history of breast and/or ovarian cancer to understand their screening experiences and views. N = 61 individuals completed an interview. Interview transcripts were qualitatively analyzed for themes regarding clinical experiences, guideline adherence, and family sharing specific to Black women and their families. Most participants were college educated with active health insurance. Women in this cohort were knowledgeable about the benefits of mammography and described few barriers to adhering to annual mammogram guidelines. Some with first-degree family history were frustrated at insurance barriers to mammography before the age of 40. Participants were generally comfortable encouraging family and friends to receive mammograms and expressed a desire for a similar screening tool for ovarian cancer. However, they expressed concern that factors such as screening awareness and education, lack of insurance coverage, and other systematic barriers might prevent other Black women from receiving regular screening. Black women in this cohort reported high adherence to mammography guidelines, but expressed concern about cultural and financial barriers that may impact cancer screening access in the population more generally and contribute to disparities. Participants noted the importance of frank and open discussions of breast cancer screening in their families and community as a means of improving awareness.

Perceptions and Use of Telehealth Among Diverse Communities: Multisite Community-Engaged Mixed Methods Study.

BACKGROUND: Telehealth has been increasingly adopted by health care systems since the start of the COVID-19 pandemic. Although telehealth may provide convenience for patients and clinicians, there are several barriers to accessing it and using it effectively to provide high-quality patient care. OBJECTIVE: This study was part of a larger multisite community-engaged study conducted to understand the impact of COVID-19 on diverse communities. The work described here explored the perceptions of and experience with telehealth use among diverse and underserved community members during COVID-19. METHODS: We used mixed methods across three regions in the United States (Midwest, Arizona, and Florida) from January to November 2021. We promoted our study through social media and community partnerships, disseminating flyers in English and Spanish. We developed a moderator guide and conducted focus groups in English and Spanish, mostly using a videoconferencing platform. Participants were placed in focus groups with others who shared similar demographic attributes and geographic location. Focus groups were audio-recorded and transcribed. We analyzed our qualitative data using the framework analytic approach. We developed our broader survey using validated scales and with input from community and scientific leaders, which was then distributed through social media in both English and Spanish. We included a previously published questionnaire that had been used to assess perceptions about telehealth among patients with HIV. We analyzed our quantitative data using SAS software and standard statistical approaches. We examined the effect of region, age, ethnicity/race, and education on the use and perceptions of telehealth. RESULTS: We included data from 47 focus groups. Owing to our mode of dissemination, we were not able to calculate a response rate for the survey. However, we received 3447 English-language and 146 Spanish-language responses. Over 90% of participants had internet access and 94% had used telehealth. Approximately half of all participants agreed or strongly agreed that telehealth would be beneficial in the future because it better fit their schedules and they would not need to travel. However, approximately half of the participants also agreed or strongly agreed they would not be able to express themselves well and could not be examined when using telehealth. Indigenous participants were especially concerned about these issues when compared to other racial groups. CONCLUSIONS: This work describes findings from a mixed methods community-engaged research study about telehealth, including perceived benefits and concerns. Although participants enjoyed the benefits of telehealth (eg, not having to travel and easier scheduling), they also had concerns (eg, not being able to express themselves well and not having a physical exam) about telehealth. These sentiments were especially notable among the Indigenous population. Our work highlights the importance of fully understanding the impact of these novel health delivery modalities on the patient experience and actual or perceived quality of care received.

Views of parents of children with Down syndrome on Alzheimer's disease vaccination.

Individuals with Down syndrome (DS) experience increased risk of Alzheimer's disease (AD). Recent studies suggest that a vaccine against AD may be forthcoming. Parental buy-in is critical to the success of any intervention in this population, as adults with DS often rely on familial support. This study aims to characterize parents' perceptions of a hypothetical vaccine to prevent AD in individuals with DS. A mixed-methods, anonymous survey was distributed via social media. Participants were asked about their experiences with DS and reactions to proposed interventions. Open-ended responses were thematically analyzed using NVivo 12. Of 1,093 surveys initiated, 532 were completed. Of the parents sampled (N = 532), a small majority (54.3%), supported the proposed AD vaccine. All expressed the need for extensive pre-enrollment education and minimal risk. For many, limited research and long-term sequelae were concerns.

"I had so many life-changing decisions I had to make without support": a qualitative analysis of women's pregnant and postpartum experiences during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has posed profound challenges for pregnant patients and their families. Studies conducted early in the pandemic found that pregnant individuals reported increased mental health concerns in response to pandemic-related stress. Many obstetric practices changed their healthcare delivery models, further impacting the experiences of pregnant patients. We conducted a survey study to explore the ways in which COVID-19 impacted the lives of pregnant and newly postpartum people. METHODS: A mixed-methods survey was distributed to all patients ≥18 years old who were pregnant between January 1st, 2020 - April 28, 2021 in a large Midwest health system. Open-ended survey responses were analyzed for common themes using standard qualitative methodology. RESULTS: Among the 1182 survey respondents, 647 women provided an open-ended response. Of these, 77% were in the postpartum period. The majority of respondents identified as white, were partnered or married, and owned their own home. Respondents reported feeling greater uncertainty, social isolation, as though they had limited social and practical support, and negative mental health effects as a result of the pandemic. Many cited sudden or arbitrary changes to their medical care as a contributing factor. Though in the minority, some respondents also reported benefits from the changes to daily life, including perceived improvements to medical care, better work-life balance, and opportunities for new perspectives. CONCLUSIONS: This large qualitative dataset provides insight into how healthcare policy and lifestyle changes impacted pregnant and postpartum people. Respondents expressed similar levels of uncertainty and mental health concerns compared to other cohorts but less overall positivity. Our findings suggest greater attention be given to the impact of pandemic-related stress on pregnant and postpartum women. As the pandemic continues, these data identify areas where investment in additional support may have the greatest impact.

Pregnant and Postpartum Patients' Views of COVID-19 Vaccination.

Perinatal patients were faced with the decision to receive a COVID-19 vaccination in the absence of clinical trial data on COVID-19 vaccine safety and efficacy in pregnant and lactating patients. We used the Coronavirus Perinatal Experiences Impact Survey to explore the impact of the COVID-19 pandemic on the lives of perinatal patients. The mixed-method survey was distributed to all patients ≥ 18 years old who were pregnant between January 1st, 2020 - April 28, 2021 at a large academic health system in the upper Midwest. Open-ended responses were qualitatively analyzed. Of the 1182 respondents who completed the survey, 647 answered at least one open-ended question. Among these 647 participants, 85 discussed COVID-19 vaccination and were secondarily analyzed. The responses illustrated a wide range of perspectives regarding COVID-19 vaccination, with many citing concerns over the consequences of maternal vaccination on their child. Others highlighted the lack of information surrounding COVID-19 vaccination in perinatal women. Respondents also discussed challenges discussing their vaccination status with their healthcare provider and the impact of family member's vaccination decisions on postpartum support and childcare. The unprompted discussion of concerns about COVID-19 vaccination suggests this decision weighed on many participants, especially in the context of lack of information early in the pandemic. Our findings support the need for open discussion of perinatal patients with their providers on COVID-19 vaccination during the pregnancy and postpartum period.

Ethical considerations of maternal-fetal surgery.

The practice of maternal-fetal surgery (MFS) has expanded from lethal fetal conditions to conditions which are significantly disabling but not a lethal fetal abnormality. The inclusion of myelomeningocele within the scope of MFS in the 1990s sparked a renewed debate over the ethics of MFS. While demonstrating increasing efficacy and range of application, MFS continues to be ethically fraught due to the inherent tension between maternal and fetal interests. Ethical issues central to MFS include the patienthood of the fetus; the balance of risks and benefits between the woman and fetus; informed consent for experimental procedures; and determination of conditions that meet ethical qualifications for MFS intervention. These concerns are likely to persist and evolve as perinatal medicine continues to advance. Here we summarize the current state of MFS ethics, highlighting the major positions in the literature thus far as well as examine future directions. It is essential robust discussions of these important issues continue both to ensure ethical medical practice and to provide support to clinicians, pregnant women, and their families.

Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences.

Sex 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.

Second Victim Experience among OBGYN Trainees: What Is Their Desired Form of Support?

OBJECTIVES: Physician trainees in obstetrics and gynecology (OBGYN) experience unexpected outcomes similar to those of supervising physicians. A relative lack of experience and perspective may make them more vulnerable to second victim experience (SVE), however. The objectives of our study were to contrast the prevalence of SVE between supervising physicians and trainees and to identify their preferred methods of support. METHODS: In 2019, the Second Victim Experience and Support Tool, a validated survey with supplemental questions, was administered to healthcare workers caring for OBGYN patients at a large academic center in the midwestern United States. RESULTS: The survey was sent to 571 healthcare workers working in OBGYN. A total of 205 healthcare workers completed the survey, including 18 (43.9% of 41) supervising physicians and 12 (48.0% of 25) resident/fellow physicians. The mean scores for the Second Victim Experience and Support Tool dimensions and outcomes were similar between the two groups. Seven (58.3%) trainees reported feeling like a second victim after an adverse patient safety event at some point in their work experience compared with 10 (55.6%) of the supervising physicians. Five (41.7%) trainees identified as a second victim in the previous 12 months compared with 3 (16.7%) supervising physicians (P = 0.21). The most common form of desired support for both groups was conversations with their peers. CONCLUSIONS: Trainees and supervising physicians are both at risk of SVE after an unexpected medical event and prefer conversations with peers as a desired form of support. Because trainees commonly encounter SVEs early in their careers, program directors should consider implementing a program for peer support after an unexpected event.

Evaluation of a Second Victim Peer Support Program on Perceptions of Second Victim Experiences and Supportive Resources in Pediatric Clinical Specialties Using the Second Victim Experience and Support Tool (SVEST).

PURPOSE: Pediatric healthcare professionals (HCPs) may experience events that lead to psychological distress or second victim experiences (SVEs). This project evaluates the impact of a newly implemented peer support program on SVEs and perceptions of supportive resources among pediatric HCPs. DESIGN AND METHODS: A second victim (SV) peer support program was implemented in the pediatric inpatient and intensive care units in September 2019. Multidisciplinary HCPs in these units were invited to participate in an anonymous survey that included the Second Victim Experience and Support Tool before and one-year after implementation. The survey assessed HCPs' SVEs, desired support, and perceptions of the peer support program. RESULTS: 52.0% (194/373) completed the pre-implementation survey, and 43.9% (177/403) completed the post-implementation survey. At both timepoints, participants reported SV-related psychosocial distress, physical distress, or low professional self-efficacy; the most desired support was 'a respected peer to discuss the details of what happened'. Following implementation of the peer support program, HCPs were significantly more likely to have heard of the term 'second victim' (51.8 vs. 74.0%; p < 0.001) and to have felt like there were adequate resources to support SVs (35.8% vs. 89.1%; p < 0.001). In the post-implementation survey, most respondents indicated a likelihood to use the program for themselves (65.7%) or colleagues (84.6%) after involvement in future traumatic clinical events. CONCLUSIONS: Implementation of a peer support program significantly influenced awareness and perceptions of support available for SV-related distress. PRACTICE IMPLICATIONS: Peer support programs should be implemented to help HCPs navigate SVEs and decrease SV-related turnover intentions.

Second victim experiences of nurses in obstetrics and gynaecology: A Second Victim Experience and Support Tool Survey.

AIM (S): To investigate second victim experiences and supportive resources for nurses in obstetrics and gynaecology. BACKGROUND: Nurses are at risk of developing second victim experiences after exposure to work related events. METHODS: Nurses at a single institution were invited to participate in an anonymous survey that included the validated Second Victim Experience and Support Tool to assess symptoms related to second victim experiences and current and desired supportive resources. RESULTS: Of 310 nurses, 115 (37.1%) completed the survey; 74.8% had not heard of the term 'second victim'. Overall, 47.8% reported feeling like a second victim during their career and 19.1% over the previous 12 months. As a result of a second victim experience, 18.4% experienced psychological distress, 14.3% turnover intentions, 13.0% decreased professional self-efficacy, and 12.2% felt that institutional support was poor. Both clinical and non-clinical events were reported as possible triggers for second victim experiences. Peer support was the most desired form of support as reported by 95.5%. CONCLUSION(S): Nurses in obstetrics and gynaecology face clinical and non-clinical situations that lead to potential second victim experiences. IMPLICATIONS FOR NURSING MANAGEMENT: The second victim experiences of nurses should be acknowledged, and resources should be implemented to navigate it. Educational opportunities and peer supportive interventions specific to second victim experiences should be encouraged.

Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.

The 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.

Gene modification therapies: views of parents of people with Down syndrome.

PURPOSE: In considering gene modification technologies, the priorities of patient communities must be a central consideration. The purpose of this study is to assess views of families with Down syndrome (DS) regarding potential genome-based interventions. METHODS: We constructed an anonymous online survey for family members of people with DS. Participants were asked to agree or disagree with scenarios describing hypothetical interventions to silence or significantly alter the physical and cognitive effects of a trisomy 21, and also with scenarios depicting currently available physical interventions. RESULTS: All 532 respondents were parents of people with DS. For each of the five scenarios, over half said they would approve the intervention or would advise their children with DS to do so. Responses to hypothetical prenatal and pediatric cognitive interventions were significantly affected by participants' assessments of the impact of DS on their children's and their families' lives, while physical and adult cognitive scenarios were not. CONCLUSION: Future interventions to address genetic conditions will impact patient communities and cannot succeed without their input and support. While many parents of people with DS indicated approval for hypothetical genetic therapies, these results indicate a need for continuing dialogue about benefits and drawbacks of gene modification technologies.

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

PURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. METHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. RESULTS: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. CONCLUSIONS: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.