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.

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.

Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.

A rapid increase in the reach and breadth of prenatal genetic screening and testing has led to an expanding need for prenatal support of families receiving this genetic information. As part of a larger study investigating prenatal preparation for a child with a genetic condition, we interviewed representatives of patient advocacy groups (PAGs) who support parents post-diagnosis. Groups supporting families with Down syndrome were often local or regional, while other groups were often national or international in scope. Groups varied in their willingness or ability to support families prior to making a pregnancy continuation decision, and participants reflected on ways they addressed these needs with individual counseling and referrals, if needed. Participants described supporting parents with information about conditions and a range of lived experiences for families, while referring families to healthcare professionals for technical questions and additional medical needs. PAGs also prioritized connecting parents experiencing a new diagnosis with other families for peer support and community-building, both in person and on social media. Participants discussed limitations, such as a lack of racially-concordant support, ability to offer resources in languages other than English, and a lack of funding to meet the expressed needs of families post-diagnosis. Overall, participants emphasized that the parenting experience of each child is unique, irrespective of a genetic diagnosis, an experience for which parents can never be "totally prepared."

Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.

While prenatal screening and testing have expanded substantially over the past decade and provide access to more genetic information, expectant parents are more likely to describe the diagnosis experience as negative than positive. In addition, the conversations that take place during these experiences sometimes reflect unconscious bias against people with disabilities. Consequently, an interdisciplinary committee of experts, including people with disabilities, family members, disability organization leaders, healthcare and genetics professionals, and bioethicists, reviewed selected published and gray literature comparing the current state of the administration of prenatal testing to the ideal state. Subsequently, the interdisciplinary team created recommendations for clinicians, public health agencies, medical organizations, federal agencies, and other stakeholders involved with administering prenatal screening and testing to create better patient experiences; conduct training for healthcare professionals; create, enforce, and fund policies and guidelines; and engage in more robust data collection and research efforts.

Impact of Telehealth on the Delivery of Prenatal Care During the COVID-19 Pandemic: Mixed Methods Study of the Barriers and Opportunities to Improve Health Care Communication in Discussions About Pregnancy and Prenatal Genetic Testing.

BACKGROUND: The COVID-19 pandemic brought significant changes in health care, specifically the accelerated use of telehealth. Given the unique aspects of prenatal care, it is important to understand the impact of telehealth on health care communication and quality, and patient satisfaction. This mixed methods study examined the challenges associated with the rapid and broad implementation of telehealth for prenatal care delivery during the pandemic. OBJECTIVE: In this study, we examined patients' perspectives, preferences, and experiences during the COVID-19 pandemic, with the aim of supporting the development of successful models to serve the needs of pregnant patients, obstetric providers, and health care systems during this time. METHODS: Pregnant patients who received outpatient prenatal care in Cleveland, Ohio participated in in-depth interviews and completed the Coronavirus Perinatal Experiences-Impact Survey (COPE-IS) between January and December 2021. Transcripts were coded using NVivo 12, and qualitative analysis was used, an approach consistent with the grounded theory. Quantitative data were summarized and integrated during analysis. RESULTS: Thematic saturation was achieved with 60 interviews. We learned that 58% (35/60) of women had telehealth experience prior to their current pregnancy. However, only 8% (5/60) of women had used both in-person and virtual visits during this pregnancy, while the majority (54/60, 90%) of women participated in only in-person visits. Among 59 women who responded to the COPE-IS, 59 (100%) felt very well supported by their provider, 31 (53%) were moderately to highly concerned about their child's health, and 17 (29%) reported that the single greatest stress of COVID-19 was its impact on their child. Lead themes focused on establishing patient-provider relationships that supported shared decision-making, accessing the information needed for shared decision-making, and using technology effectively to foster discussions during the COVID-19 pandemic. Key findings indicated that participants felt in-person visits were more personal, established greater rapport, and built better trust in the patient-provider relationship as compared to telehealth visits. Further, participants felt they could achieve a greater dialogue and ask more questions regarding time-sensitive information, including prenatal genetic testing information, through an in-person visit. Finally, privacy concerns arose if prenatal genetic testing or general pregnancy conversations were to take place outside of the health care facility. CONCLUSIONS: While telehealth was recognized as an option to ensure timely access to prenatal care during the COVID-19 pandemic, it also came with multiple challenges for the patient-provider relationship. These findings highlighted the barriers and opportunities to achieve effective and patient-centered communication with the continued integration of telehealth in prenatal care delivery. It is important to address the unique needs of this population during the pandemic and as health care increasingly adopts a telehealth model.

Prenatal genetics in a post-Roe United States.

The Supreme Court removed a federal right to abortion access in June 2022. This returned the legality of abortion to each of the 50 states. This will have a profound impact on the provision of prenatal care in general and prenatal genetic screening and testing.

Pregnant Women in Trials of Covid-19: A Critical Time to Consider Ethical Frameworks of Inclusion in Clinical Trials.

Ethical issues abound during this unprecedented international public health crisis of Covid-19. While the trade-off between societal and individual interests that occurs at the intersection of public health ethics and clinical ethics affects all populations, this calculus has particular relevance for pregnant women and the question of when they will have access to new Covid-19 therapies and vaccines. Pregnant women are a "scientifically complex" population whose inclusion in clinical research must be done with consideration of the unique state of pregnancy. Yet research on the impact of Covid-19 on pregnant women is lagging. In a rush to prevent and treat SARS-CoV-2 infection, it is crucial that the interests of pregnant women be prioritized to enable them to make autonomous, informed decisions about participating in clinical trials. The global pandemic calls for a revisiting of frameworks for the inclusion of pregnant women in research, as these women have an important stake in the prevention and treatment of Covid-19.

Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.

As prenatal genetic testing technologies have become both easier and more accessible, women are increasingly choosing prenatal genetic testing for a reason that is largely unexamined in the clinical literature: preparation. This reasoning, offered not only from pregnant women but frequently from testing laboratories and health care providers, reflects long-held assumptions that prenatal genetic results-properly delivered and followed with information, clinical surveillance, and/or social supports-prepare families for a child with a genetic condition, and even improve health and social outcomes for children and families. But these assumptions remain unexamined, since there are no clear definitions or recommendations for prenatal preparation. Preparation may refer to several overlapping ways in which prenatal information may change parents' approach to the rest of the pregnancy, including: (a) clinical activities, including surveillance, interventions, and delivery planning; (b) social and informational support, such as interacting with patient support groups and gathering information about quality of life; and (c) psychological "coping" or adjustments to the reality of raising a child with a genetic condition. These meanings and activities intersect and influence one another and form a foundation for postnatal family adaptation, but they are rarely parsed out in studies examining the impact of prenatal diagnosis. Based on previous work delineating conceptual models as middle terms between theory and reality, we are building a conceptual model that incorporates an empirical understanding of meanings and actions encompassed by prenatal preparation. Comparing diverse families' expectations with the resources they are offered can identify (mis)matches between priorities and approaches.

Evaluating the Risks and Benefits of Genetic and Pharmacologic Interventions for Down Syndrome: Views of Parents.

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.

The personal utility of cfDNA screening: Pregnant patients' experiences with cfDNA screening and views on expanded cfDNA panels.

Prenatal cell-free DNA screening (cfDNA) provides more genetic risk information about the fetus than has ever been possible. At the same time, the rapid expansion of new cfDNA panels raises important questions about how to structure patient-centered discussions that best support patients' decision-making about its use. To address this question, we conducted interviews with pregnant patients to identify decision-making needs and preferences with respect to cfDNA in patient-centered healthcare discussions, given its evolving capability to identify a range of fetal variants. Personal utility was a core concept guiding decision-making. Participants spoke of how their deeply personal values and beliefs about maternal responsibility, actionability, and tolerance of uncertainty framed their view of the personal utility of cfDNA screening. While discussing their notions of personal utility with their healthcare provider, participants also had concerns about potential ramifications for the provider-patient relationship and shared decision-making when disclosing values and preferences regarding disability, quality of life, and termination-particularly as it becomes possible to identify variants with different disease-associated severity and outcomes. The complexities associated with the introduction of genomics in prenatal care present unique challenges to structuring effective shared decision-making discussions between patients and their healthcare providers. While efforts are underway to determine how to best educate patients about the medical aspects of cfDNA, it is equally important to develop approaches in healthcare communication that enable patients to make informed, values-based decisions about the use of cfDNA and its impact on their pregnancy.

Prioritizing Women's Health in Germline Editing Research.

Although women are inextricably involved in the study of germline editing, their interests have not been significantly represented in debates about the evolution of genome editing technology. Discussions have taken place about effects of germline editing on women as parents and members of families, but key discussions about women's health and well-being as patients and subjects are lacking. This neglect is due in part to restrictions on uterine transfer of modified human embryos, a boundary that has now been crossed. As a result, only scant discussion has taken place about safeguards needed to ensure that women who participate in germline modification research are not exposed to disproportionate risk in exchange for benefits they might expect for future offspring. This omission sets the stage for serious ethical implications for women and their families.

Attitudes Toward Hypothetical Uses of Gene-Editing Technologies in Parents of People with Autosomal Aneuploidies.

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.

The clinical application of gene editing: ethical and social issues.

Gene-editing techniques have progressed rapidly in the past 5 years. There are already ongoing human somatic gene-editing clinical trials for multiple diseases. And there has been one purported scenario of human germline gene editing in late 2018. In this paper, we will review the current state of the technology, discuss the ethical and social issues that surround the various forms of gene editing, as well as review emerging stakeholder data from professionals, the 'general public' and individuals and families dealing with genetic diseases potentially treatable by gene editing.

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.