'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.

OBJECTIVES: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England. This study aimed to explore parent experiences and their information and support needs from the perspective of parents offered pES and of health professionals involved in its delivery. METHODS: In this qualitative study, semi-structured interviews were conducted with 42 women and 6 male partners and 63 fetal medicine and genetic health professionals. Interviews were transcribed verbatim and analysed using thematic analysis. RESULTS: Overall views about pES were positive and parents were grateful to be offered the test. Highlighted benefits of pES included the value of the additional information for pregnancy management and planning for future pregnancies. An anxious wait for results was common, often associated with the need to make decisions near to 24 weeks in pregnancy when there are legal restrictions for late termination. Descriptions of dealing with uncertainty were also common, even when results had been returned. Many parents described pES results as informing decision-making around whether or not to terminate pregnancy. Some professionals were concerned that a non-informative result could be overly reassuring and highlighted that careful counselling was needed to ensure parents have a good understanding of what the result means for their pregnancy. Emotional support from professionals was valued; however, some parents felt that post-test support was lacking. CONCLUSION: Parents and professionals welcomed the introduction of pES. Results inform parents' decision-making around the termination of pregnancy. When there are no diagnostic findings or uncertain findings from pES, personalised counselling that considers scans and other tests are crucial. Directing parents to reliable online sources of information and providing emotional support throughout could improve their experiences of care.

ER-phagy in neurodegeneration.

There are many cellular mechanisms implicated in the initiation and progression of neurodegenerative disorders. However, age and the accumulation of unwanted cellular products are a common theme underlying many neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and Niemann-Pick type C. Autophagy has been studied extensively in these diseases and various genetic risk factors have implicated disruption in autophagy homoeostasis as a major pathogenic mechanism. Autophagy is essential in the maintenance of neuronal homeostasis, as their postmitotic nature makes them particularly susceptible to the damage caused by accumulation of defective or misfolded proteins, disease-prone aggregates, and damaged organelles. Recently, autophagy of the endoplasmic reticulum (ER-phagy) has been identified as a novel cellular mechanism for regulating ER morphology and response to cellular stress. As neurodegenerative diseases are generally precipitated by cellular stressors such as protein accumulation and environmental toxin exposure the role of ER-phagy has begun to be investigated. In this review we discuss the current research in ER-phagy and its involvement in neurodegenerative diseases.

Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment.

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey-based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS-12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options.

The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing.

Genome sequencing (GS) has the potential to reduce the "diagnostic odyssey" that many parents of children with rare undiagnosed conditions experience. While much research has considered the impact of receiving a diagnostic result, research has rarely focused solely on the impact of receiving a "no primary finding" (NPF) result. This study aimed to investigate the experience of parents of children with rare and undiagnosed conditions following an NPF result from GS. Nine parents whose child had an NPF result from GS were recruited through the social media platform of the charity SWAN (Syndromes Without A Name) UK. Semi-structured telephone interviews were conducted, transcribed verbatim, and analyzed using grounded theory. Analysis led to the emergence of two main themes. The first theme "Striving to Solve the Unsolved Puzzle" concerned the experience of striving to end the "diagnostic odyssey." The second theme "Navigating Hope, Lost then Found" plots the trajectory of hope raised by the promise of a new technology, dashed by the NPF, and the eventual return of small and distant hope for the future. Taken together, these themes allowed for a proposed theory: "The Disequilibrium of Hope," which highlights the dynamic and modifiable experience of hope participants experience in their GS journey. These results suggest GS can be an emotional rollercoaster for parents. While hope plays an important role in coping with the day-to-day life of living with a rare disease, careful management of expectations from GS is important during pre-test counseling, and continued follow-up and support are needed beyond result disclosure. An understanding of the disappointment and distress caused by an NPF result is valuable for healthcare professionals in this field to ensure counseling can be tailored. Further research should consider how to support parents after an NPF result.

Peripheral Insertion of Pediatric Central Venous Catheters in Adults with Difficult I.V. Access.

BACKGROUND: Difficult intravenous access is a frequent occurrence in critical care and emergency medicine. Prior intravenous access, chemotherapy use, and obesity are a few factors associated with difficult access. Alternatives to peripheral access are often contraindicated, not feasible, or not readily available. OBJECTIVES: To describe the feasibility and safety of peripheral insertion of peripherally inserted pediatric central venous catheters (PIPCVC) in a cohort of adult critical care patients with difficult intravenous access. METHODS: Prospective observational study of adult patients with difficult intravenous access who underwent peripheral insertion of pediatric PIPCVCs at a large university hospital. RESULTS: During a 1-year period, 46 patients were evaluated for PIPCVC; 40 catheters were placed successfully. The median age of the patients was 59 years (range 19-95 years) and 20 (50%) were female. The median body mass index was 27.2 (range 17.1-41.8). The basilic vein was accessed in 25/40 (63%) patients, the cephalic in 10/40 (25%), and the accessed vessel was missing in 5/40 (13%) cases. The PIPCVCs were in place for a median of 8 days (range 1-32). One superficial thrombosis and one deep occurred; pulmonary embolism did not occur. CONCLUSIONS: PIPCVC placement seems to be a feasible option in patients in whom peripheral intravenous access is difficult. The safety of this technique needs to be evaluated in prospective studies.

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.

PURPOSE: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis. METHODS: This study involved a cross-sectional observational survey with participants in the 100,000 Genomes Project. RESULTS: Survey response rate was 51% (504/978). Most participants self-reported that they had decided to undergo genome sequencing (94%) and that this was an informed decision (84%) with low decisional conflict (95%). Most self-reported that they had chosen to receive additional findings (88%) and that this was an informed decision (89%) with low decisional conflict (95%). Participants were motivated more by the desire to help others via research than by the belief it would help them obtain a diagnosis (Z = 14.23, P = 5.75 × 10-46), although both motivations were high. Concerns were relatively few but, where expressed, were more about the potential psychological impact of results than data sharing/access (Z = 9.61, P = 7.65 × 10-22). Concerns were higher among male, Asian or Asian British, and more religious participants. General and context-specific understanding of genome sequencing were both moderately high (means 5.2/9.0 and 22.5/28.0, respectively). CONCLUSION: These findings are useful to inform consent guidelines and clinical implementation of genome sequencing.

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.

OBJECTIVES: We conducted a systematic review and meta-analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural anomalies, where karyotype/chromosomal microarray (CMA) is normal. METHODS: Following electronic searches of four databases, we included studies with ≥10 structurally abnormal fetuses undergoing ES or whole genome sequencing. The incremental diagnostic yield of ES over CMA/karyotype was calculated and pooled in a meta-analysis. Sub-group analyses investigated effects of case selection and fetal phenotype on diagnostic yield. RESULTS: We identified 72 reports from 66 studies, representing 4350 fetuses. The pooled incremental yield of ES was 31% (95% confidence interval (CI) 26%-36%, p < 0.0001). Diagnostic yield was significantly higher for cases pre-selected for likelihood of monogenic aetiology compared to unselected cases (42% vs. 15%, p < 0.0001). Diagnostic yield differed significantly between phenotypic sub-groups, ranging from 53% (95% CI 42%-63%, p < 0.0001) for isolated skeletal abnormalities, to 2% (95% CI 0%-5%, p = 0.04) for isolated increased nuchal translucency. CONCLUSION: Prenatal ES provides a diagnosis in an additional 31% of structurally abnormal fetuses when CMA/karyotype is non-diagnostic. The expected diagnostic yield depends on the body system(s) affected and can be optimised by pre-selection of cases following multi-disciplinary review to determine that a monogenic cause is likely.

Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

OBJECTIVES: Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, concerns, and support needs. METHODS: Semi-structured interviews were conducted with 11 parents and 20 health professionals (fetal medicine and clinical genetics) with experience of rapid pES prior to implementation in the English National Health Service. Interviews were transcribed verbatim and analysed thematically. RESULTS: Parents and professionals were largely positive about pES, emphasising clinical and psychosocial benefits of a timely, definitive diagnosis in pregnancy. Concerns included parental anxiety related to the timing of pES results or uncertain findings, a need for guidelines for case selection and reporting, and ensuring sufficient capacity for counselling, phenotyping and variant interpretation. Professionals were concerned non-genetics professionals may not be equipped to counsel parents on the complexities of pES. CONCLUSION: These findings highlight important issues for clinical implementation of pES. Expert counselling is required to enable parents to make informed decisions during a stressful time. To achieve this, professionals need further education and training, and fetal medicine and genetics services must work closely together to ensure parental understanding and appropriate support.

What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing.

OBJECTIVE: To identify what online patient information (presented in English) is available to parents about prenatal microarray (CMA) and exome sequencing (ES), and evaluate its content, quality, and readability. METHOD: Systematic searches (Google and Bing) were conducted, and websites were categorised according to their purpose. Websites categorised as patient information were included if they were: in English, directed at patients, or were a text, video, or online version of an information leaflet. Author-developed content checklists, the DISCERN Genetics tool, and readability tests (the Flesch Reading Ease Score, the Gunning Fog Index, and the Simple Measure of Gobbledygook Index) were then used to assess those sources of patient information. RESULTS: Of the 665 websites screened, 18 met the criteria. A further 8 sources were found through a targeted search of professional organisations, resulting in 26 sources available for further evaluation. In general, this was found to be low in quality, omitted details recommended by national or international guidance, and was written at a level too advanced for average readers. CONCLUSION: Improvements should be made to the content, quality, and readability of online information so that it both reinforces and complements the discussions between parents and clinicians about testing options during pregnancy.

Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.

OBJECTIVE: We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. METHODS: Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. RESULTS: Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. CONCLUSION: Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.

Use of Helicopter Medical Transportation to the Neuroscience Intensive Care Unit.

BACKGROUND: Helicopter medical transportation (HMT) is a valuable resource that can expedite medical care by shortening transferring times. However, there is conflicting evidence regarding its cost and efficacy. No specific studies have addressed its use in patients transferred to the neuroscience intensive care unit (NSICU). METHODS: This was a retrospective study performed at a university hospital in the coastal southeastern USA. The flight logs for the air ambulance company were reviewed, and all patients undergoing HMT to the NSICU during a 1-year period were identified. Flight logs and medical records were reviewed to obtain basic demographics, diagnosis, mortality, transportation distance, and performance of time-sensitive interventions (TSIs) to include ventriculostomy placement, emergency craniotomy, emergency craniectomy, emergency aneurysm obliteration, emergency spine surgery, emergent endovascular procedures, subdural drain placement, emergent shunt revision, and continuous electroencephalography (EEG) performed within 4 h of admission. We analyzed the cost of HMT and correlated the clinical variables with the performance of TSIs. RESULTS: A total of 101 patients underwent HMT during a 12-month period; 26 underwent 30 TSIs (4 underwent 2 TSIs) and an additional 4 were transported for EEG monitoring. The only clinical variable associated with a TSI was subarachnoid hemorrhage with ventriculostomy placement. Continuous EEG monitoring performed in four patients with suspected status epilepticus did not show status epilepticus in any of them (one was performed after 4 h). Transportation distance was less than 60 miles in four patients who underwent TSIs. The total cost of HMT was $3,360,573: $842,672 for those who underwent TSIs and $2,517,901 for those who did not. When compared with ground transportation, an excess cost of $3,129,415.25 was incurred by using HMT. There was no difference in the median cost of transportation between patients who underwent TSIs and those who did not ($30,210 vs. $30,211). The median cost transportation difference between HMT and ground transportation was significantly different (p < 0.001), with a median excess cost of $28,023 (range $15,553-76,155) per patient. CONCLUSIONS: The majority of patients who were transferred via HMT did not undergo TSIs, and among those who underwent TSIs, approximately one in six was transported from a hospital located less than 60 miles away from the NSICU; the distances of ground and air transportation are equivalent. Helicopter transfers may play a role in subarachnoid hemorrhage management. A significant expense was incurred by using HMT for the majority of patients (75%) who did not undergo TSIs.

How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.

Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re-analysis, protocols, multidisciplinary teams, genetic counselling, whether to limit the possible scope of results, and when to report particular findings. This systematic review helps provide a vocabulary for uncertainties, and a compass to navigate uncertainties. Prenatal CMA and ES guidelines provide a strong starting point for determining how to handle uncertainty. Gaps in guidelines and recommendations were identified and discussed to provide direction for future research and policy making.

It's Not You, It's Me: Learning to Navigate the Patient-Physician Relationship.

In this essay, a medical student details how she struggled to let go of a patient with whom she connected throughout the patient's pregnancy during her second year of medical school. Although she learned in her preclinical "doctoring" courses how to build quick connections with patients, such training did not delve into how to manage meaningful, emotionally complex connections that may form with patients during longitudinal rotations or, as in this case, extracurricular activities. While primary care physicians may have decades of practice managing evolving longitudinal relationships, medical students who form strong connections with patients are just learning what it means to navigate those relationships, some of which come to an end. Reflecting on the end of this particular relationship helped the author appreciate the power of the longitudinal physician-patient relationship and taught her that taking care of patients also requires taking care of one's self.

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.

OBJECTIVES: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES). METHODS: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management. RESULTS: There was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines. CONCLUSION: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches.

Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty.

For a number of prospective parents, uncertainty during pregnancy starts when an anomaly is found during a routine fetal anomaly scan. This may be followed by numerous tests to determine the etiology and nature of the anomaly. In this study, we aimed to understand how prospective parents perceive and manage uncertainty after being confronted with a structural anomaly during their routine ultrasound. Han's taxonomy of uncertainty was used as a framework to identify and understand the different types of uncertainty experienced. Interviews were held in the UK (n = 8 women and n = 1 male partner) and in the Netherlands (n = 7 women) with participants who had experienced uncertainty in their pregnancy after a fetal scan. Data were analyzed using thematic analysis, and the uncertainties experienced by parents were mapped against the dimensions of the Han taxonomy (sources, issues, and locus). Participants' experience of uncertainty was relevant to all dimensions and subcategories of the Han taxonomy, showing its applicability in the prenatal setting. Sources of uncertainty included receiving probabilistic or ambiguous information about the anomaly, or information that was complex and challenging to understand. Issues of uncertainty included were those that were scientific-such as a probable diagnosis with no further information, personal-such as the emotional impact of uncertainty, and practical-such as limited information about medical procedures and practical aspects of care. Additionally, participants described what helped them to manage uncertainty. This included active coping strategies such as searching for information on the Internet, external coping resources such as seeking social support, and internal coping resources such as using positivity and hope. Several recommendations for the healthcare professional to minimize uncertainty and help the patient deal with uncertainty have been proposed based on these findings.

Arcuate Uterus as an Independent Risk Factor for Adverse Pregnancy Outcomes.

OBJECTIVE: The aim of the study is to estimate the association between arcuate uterus and pregnancy outcomes using controls selected from a similarly high-risk cohort. STUDY DESIGN: This is a retrospective cohort study of women with an arcuate uterus cared for by a single maternal-fetal medicine practice from 2005 to 2020. We included all women with a singleton pregnancy ≥20 weeks and diagnosis of arcuate uterus and randomly selected (3:1) patients with a singleton pregnancy and no uterine anomaly from the same practice as controls. Baseline characteristics and pregnancy outcomes were compared between the two groups. Chi-square, Fisher's exact, and independent samples t-test were used for data analysis, as indicated. RESULTS: A total of 37 women with an arcuate uterus (55 independent singleton pregnancies) and 165 controls were included. There were no differences in baseline characteristics. Women with an arcuate uterus had a significantly higher rate of spontaneous preterm birth less than 37 weeks (10.9 vs. 3.0%, p = 0.031) and were more likely to require vaginal progesterone (5.5 vs. 0.6%, p = 0.049) and administration of antenatal corticosteroids (16.4 vs. 5.5%, p = 0.020). Arcuate uterus was also associated with lower birthweight (3,028.1 ± 528.0 vs. 3257.2 ± 579.9 g, p = 0.010) and higher incidence of intrauterine fetal growth restriction (20.0 vs. 7.3%, p = 0.008), despite similar starting body mass index (BMI) and weight gain throughout pregnancy. There were no differences in preeclampsia, malpresentation, cesarean delivery, blood transfusion, retained placenta, or morbidly adherent placenta. CONCLUSION: Arcuate uterus is associated with a significantly increased risk of spontaneous preterm birth (<37 weeks), need for vaginal progesterone for short cervix and antenatal corticosteroids, fetal growth restriction, and lower mean birthweight. These findings suggest that arcuate uterus is not just a normal variant of uterine anatomy but rather a risk factor for poor fetal growth, short cervix, and a higher risk pregnancy. KEY POINTS: · Arcuate uterus is associated with increased risk of preterm birth and fetal growth restriction.. · Women with arcuate uteri had higher rates of vaginal progesterone use during pregnancy.. · Arcuate uterus should be treated as a true finding rather than a normal anatomical variant..

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.

BACKGROUND: Noninvasive prenatal diagnosis (NIPD) for monogenic disorders has a high uptake by families. Since 2013, our accredited public health service laboratory has offered NIPD for monogenic disorders, predominantly for de novo or paternally dominantly inherited mutations. Here we describe the extension of this service to include definitive NIPD for a recessive condition, cystic fibrosis (CF). METHODS: Definitive NIPD for CF was developed using next-generation sequencing. Validation was performed on 13 cases from 10 families before implementation. All cases referred for CF NIPD were reviewed to determine turnaround times, genotyping results, and pregnancy outcomes. RESULTS: Of 38 referrals, 36 received a result with a mean turnaround of 5.75 days (range, 3-11 days). Nine cases were initially inconclusive, with 3 reported unaffected because the low-risk paternal allele was inherited and 4 cases in which the high-risk paternal allele was inherited, receiving conclusive results following repeat testing. One case was inconclusive owing to a paternal recombination around the mutation site, and one case was uninformative because of no heterozygosity. Before 2016, 3 invasive referrals for CF were received annually compared with 38 for NIPD in the 24 months since offering a definitive NIPD service. CONCLUSIONS: Timely and accurate NIPD for definitive prenatal diagnosis of CF is possible in a public health service laboratory. The method detects recombinations, and the service is well-received as evidenced by the significant increase in referrals. The bioinformatic approach is gene agnostic and will be used to expand the range of conditions tested for.

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.

BACKGROUND: Tests in pregnancy such as chromosomal microarray analysis and exome sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater potential to result in uncertain findings. This systematic review investigated the experiences of prospective parents about receiving uncertain results from these tests. METHODS: A systematic search of three electronic databases was conducted. Data extraction was performed for studies that met the eligibility and quality criteria. Results were synthesised following the principles of thematic analysis. RESULTS: Fourteen studies (10 qualitative, 4 quantitative) were included. Findings were grouped into three overarching themes. Sources of uncertainty included the testing procedure, the diagnosis and prognosis, and health professionals' own uncertainty. The clinical impact of the uncertainty included parents struggling to make clinical decisions with the information available, the emotional impact included decisional-regret, shock, worry and feeling overwhelmed. To manage the uncertainty, parents sought support from healthcare professionals, friends, family, the internet and other parents as well as remaining hopeful. CONCLUSIONS: Prospective parents experience a myriad of uncertainties in the prenatal setting, which must be handled sensitively. Future research should explore optimal ways of managing uncertainty to minimise harm. Recommendations are made for discussing uncertainty during pre- and post-test counseling.

Development of a measure of stigma towards occupational stress for mental health professionals.

PURPOSE: Stigma is a common barrier to mental health professionals (MHPs) seeking help for occupational stress and burnout, although there is a lack of psychometrically sound tools to measure this construct. The current study aimed to develop and validate a scale (the Mental Health Professional Stigma Scale; MHPSS) for this purpose. METHODS: The MHPSS and related measures were completed by 221 Australian MHPs via online survey, with a subsample completing the MHPSS again 2 weeks after initial completion. RESULTS: Exploratory factor analysis revealed a four-factor solution, comprising of 13 items and accounting for 50.16% of variance. Factors were Perceived Other Stigma, Perceived Structural Stigma, Personal Stigma, and Self stigma. The internal consistency, test-retest reliability, and validity of the scale were supported. CONCLUSIONS: The MHPSS has utility to capture stigmatising attitudes and beliefs related to occupational stress and burnout among MHPs. It may be used to assist in the development and evaluation of initiatives to reduce stigma and increase help-seeking among MHPs.

A step in the right direction: Lessons learned from the USMLE Step 1.

Every year, thousands of medical students in the United States and internationally take the USMLE Step 1 exam, just as their mentors did before them. Numerous commentators - physicians and students - have argued that there are problems with the USMLE Step 1 exam, including that it devalues clinically relevant educational content not tested on Step 1, it has negative consequences for student mental health, it perpetuates the misuse of race in clinical diagnosis, and dependence on Step 1 scores may hinder efforts to diversify residency cohorts. Less prominent is any conversation regarding the nuanced benefits beyond consolidation of knowledge that one may reap from preparing for the USMLE exams. In this article, the author reflects on how preparation for Step 1 helped her and her classmates develop crucial skills of compassion and empathy in a way that will be of enormous benefit to their practice as future clinicians.