Equitable Care for Patients With Disabilities: Considerations for the Gynecologic Health Care Professional.

All patients deserve high-quality health care. Patients with disabilities have historically experienced discrimination in health care and subsequently detrimental health outcomes. Health care professionals often lack confidence and preparedness in treating patients with disabilities effectively. Barriers such as communication difficulties, biased assumptions, and inadequate equipment hinder comprehensive care. These barriers to care lead to health inequalities and a diminished overall quality of life for individuals with disabilities. Existing clinical guidelines for care of this underserved population are lacking. This article establishes a comprehensive educational framework and accessible reference tools for gynecologic health care professionals to enhance their ability to offer inclusive and effective care to patients with disabilities. Insights in this article stem from expert consensus among clinicians experienced in this field and ongoing dialog with community-based disability care partners. We present actionable steps to cultivate an open, adaptable, and patient-centric method to actively engage patients and to provide suitable accommodations when needed.

Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.

OBJECTIVE: This study aimed to determine the incremental diagnostic yield of prenatal exome sequencing after negative chromosomal microarray analysis results in prenatally diagnosed bilateral severe ventriculomegaly or hydrocephalus; another objective was to categorize the associated genes and variants. DATA SOURCES: A systematic search was performed to identify relevant studies published until June 2022 using 4 databases (Cochrane Library, Web of Science, Scopus, and MEDLINE). STUDY ELIGIBILITY CRITERIA: Studies in English reporting on the diagnostic yield of exome sequencing following negative chromosomal microarray analysis results in cases of prenatally diagnosed bilateral severe ventriculomegaly were included. METHODS: Authors of cohort studies were contacted for individual participant data, and 2 studies provided their extended cohort data. The incremental diagnostic yield of exome sequencing was assessed for pathogenic/likely pathogenic findings in cases of: (1) all severe ventriculomegaly; (2) isolated severe ventriculomegaly (as the only cranial anomaly); (3) severe ventriculomegaly with other cranial anomalies; and (4) nonisolated severe ventriculomegaly (with extracranial anomalies). To be able to identify all reported genetic associations, the systematic review portion was not limited to any minimal severe ventriculomegaly case numbers; however, for the synthetic meta-analysis, we included studies with ≥3 severe ventriculomegaly cases. Meta-analysis of proportions was done using a random-effects model. Quality assessment of the included studies was performed using the modified STARD (Standards for Reporting of Diagnostic Accuracy Studies) criteria. RESULTS: A total of 28 studies had 1988 prenatal exome sequencing analyses performed following negative chromosomal microarray analysis results for various prenatal phenotypes; this included 138 cases with prenatal bilateral severe ventriculomegaly. We categorized 59 genetic variants in 47 genes associated with prenatal severe ventriculomegaly along with their full phenotypic description. There were 13 studies reporting on ≥3 severe ventriculomegaly cases, encompassing 117 severe ventriculomegaly cases that were included in the synthetic analysis. Of all the included cases, 45% (95% confidence interval, 30-60) had positive pathogenic/likely pathogenic exome sequencing results. The highest yield was for nonisolated cases (presence of extracranial anomalies; 54%; 95% confidence interval, 38-69), followed by severe ventriculomegaly with other cranial anomalies (38%; 95% confidence interval, 22-57) and isolated severe ventriculomegaly (35%; 95% confidence interval, 18-58). CONCLUSION: There is an apparent incremental diagnostic yield of prenatal exome sequencing following negative chromosomal microarray analysis results in bilateral severe ventriculomegaly. Although the greatest yield was found in cases of nonisolated severe ventriculomegaly, consideration should also be given to performing exome sequencing in cases of isolated severe ventriculomegaly as the only brain anomaly identified on prenatal imaging.

Implications for Prenatal Genetic Testing in the United States After the Reversal of Roe v Wade.

Prenatal genetic screening and diagnostic testing should be offered to every pregnant individual, with methods varying based on gestational age. Since Roe v Wade was overturned in June 2022, many states have implemented gestational age-based abortion restrictions. It is critical that reproductive health care professionals be aware of the interaction between the timing of genetic screening and diagnostic testing and the availability of legal abortion services in their state. We examined individual state abortion restrictions per publicly available data from The New York Times and the Guttmacher Institute and reviewed which genetic screening and diagnostic tests could be performed to provide results in time for individuals to decide whether to terminate their pregnancies legally in each state. As of December 11, 2022, 14 states have restrictions in which no diagnostic testing could be completed before gestational age-based cutoffs. Gestational age-based abortion restrictions may also influence a patient to favor chorionic villous sampling (CVS) over amniocentesis. There are two states, Florida and Arizona, where CVS would be feasible before the state's gestational age limit on abortion but amniocentesis would not. Both CVS and amniocentesis are feasible in 35 states, with legal challenges pending in 8 of the 35. Seven states specifically prohibit abortion for fetuses with genetic abnormalities. Clinicians may be placed in the suboptimal position of counseling patients with screening results alone before the gestational age-based ban in their state. There are several potential downstream consequences of gestational age-based termination restrictions for current genetic screening and testing paradigms, from adjustments to counseling options to potentially higher CVS procedure rates. Clinicians should be prepared for practice patterns to change to best serve patients in this evolving legal context.

Capturing Initial Understanding and Impressions of Surgical Therapy for Parkinson's Disease.

Background: Deep Brain Stimulation (DBS) is an underutilized surgical therapy for Parkinson's Disease (PD). Both physician and patient hesitancies have been described as potential barriers to DBS, but the specifics of patient perceptions of DBS have not been well-characterized in the general PD population. Objective: To characterize the understanding and impressions of surgical therapy in PD patients prior to formal surgical evaluation. Methods: A 30-question survey assessing impressions of surgical therapy for PD and understanding of DBS for PD was administered to PD patients seen at an urban movement disorders clinic. Results: One hundred and two patients completed the survey. When asked if they would undergo a hypothetical risk-free, curative brain surgery for PD, 98 patients responded "yes." Patients were more agreeable to "reversible," "minimally-invasive," and "incisionless" surgery. 51.2% thought DBS is an "effective" treatment for PD, 76.6% thought it was "invasive," and 18.3% thought it was "reversible." 45.2% reported fear of being awake during DBS surgery. Regarding costs, 52.4% were concerned that DBS was "very expensive" or "not covered by insurance." Initial source of information and perceived treatment effectiveness were not associated with concerns about DBS effectiveness or threats to normality. Negative perceptions of past surgery were associated with concerns about DBS altering mood and personality. Conclusion: Overall, patients expressed concerns regarding procedural efficacy, invasiveness, cost, and irreversibility-independent of the original source of information. Future studies are required to allow us to better understand the impact of these initial findings on DBS hesitancy and underutilization.