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.

The impact of implicit and explicit bias about disabilities on parent experiences and information provided during prenatal screening and testing.

BACKGROUND: Prenatal screening technology has consistently raised concerns regarding the conversations and information provided about disabilities, particularly given that research shows trauma related to negative prenatal screening and diagnosis experiences among parents of children with Down syndrome.1 OBJECTIVE: To determine what information obstetric medical providers (OB/MFMs) are most and least likely to provide when delivering prenatal screening/testing results about Down syndrome (DS), the subsequent impact of bias on prenatal screening experiences, and how these issues can be addressed through training, resources, and professional guidelines. METHODS: Online surveys were distributed to parents of children with DS born between 2016 and 2021 via local DS organizations and the national DS Diagnosis Network (April 2020-December 2021). RESULTS: Of the 242 parents who completed the survey, a majority indicated that OB/MFMs were most likely to discuss medical issues and reproductive options while less than 40% reported that OB/MFMs discussed psychosocial outcomes, supports, and services. Respondents reported that the 61.3% of OB/MFMs who delivered the diagnosis as bad news or said "I'm sorry" were significantly less likely than their counterparts to provide information about life outcomes, supports and services, condition-specific resources, or more comprehensive prenatal care. Qualitative responses about screening/diagnosis experiences provided further context about the impact of implicit and explicit bias on the provision of accurate, up-to-date information. CONCLUSION: To meet information needs during prenatal screening, OB/MFMs need access to accurate, balanced, and up-to-date information about disabilities and more training on disability cultural competency and how to deliver prenatal screening/testing results without implicit or explicit bias.

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.

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.

Sex-Typed Social Development in Lemur catta.

Strong chemical control of strepsirrhine mating behaviour when compared to haplorhines might suggest that strepsirrhine behavioural development, generally, is under stronger somatic control. A comparative lack of reported behavioural sex differences in immature strepsirrhines would seem to support this hypothesis, but the recent discovery of sex differences in juvenile foraging behaviour in Lemur catta suggests that this difference might be an artefact of undersampling in strepsirrhines. Here, I document in wild L. catta the temporal development of a wider repertoire of social behaviours than have been studied in captivity over a longer developmental duration than has been studied in the wild to identify which behaviours might be and which cannot be linked to puberty. Sex differences in proximity and agonism did not appear before 2 years, consistent with previous reports and suggestions that they are linked to somatic or social changes at puberty. Immature females exhibited adult female-typical interest in infants; immature males demonstrated elements of adult male scent-marking behaviour, and immature males demonstrated marked attraction to adult males - sex differences that cannot be dependent on gonadal maturation. Immature L. catta exhibited some sex differences common in immature haplorhines, which are thought to be strategic choices by immatures to increase their later reproductive success.

Beyond the Genetic Diagnosis: Providing Parents What They Want to Know.

Clinicians need to provide accurate, up-to-date, and balanced information to parents following a prenatal or postnatal diagnosis of Down syndrome and other genetic conditions. Families want information about the genomic outcomes and medical issues, but they also want information about life outcomes and social supports. Because the anticipated outcomes of a condition can change significantly based on available social support, health care, and services, it is important for clinicians to stay up-to-date about new developments and credible, medically reviewed information about Down syndrome and other genetic conditions to access resources for clinical care.

Impact of the increased adoption of prenatal cfDNA screening on non-profit patient advocacy organizations in the United States.

The 'Stakeholder Perspectives on Noninvasive Prenatal Genetic Screening' Symposium was held in conjunction with the 2015 annual meeting of the International Society for Prenatal Diagnosis. During the day-long meeting, a panel of patient advocacy group (PAG) representatives discussed concerns and challenges raised by prenatal cell-free DNA (cfDNA) screening, which has resulted in larger demands upon PAGs from concerned patients receiving prenatal cfDNA screening results. Prominent concerns included confusion about the accuracy of cfDNA screening and a lack of patient education resources about genetic conditions included in cfDNA screens. Some of the challenges faced by PAGs included funding limitations, lack of consistently implemented standards of care and oversight, diverse perspectives among PAGs and questions about neutrality, and lack of access to training and genetic counselors. PAG representatives also put forward suggestions for addressing these challenges, including improving educational and PAG funding and increasing collaboration between PAGs and the medical community. © 2016 John Wiley & Sons, Ltd.

Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors.

Intellectual disability (ID) with or without other anomalies is a common referral for genetic counseling. Sessions may include discussions of reproductive implications and other issues related to sex education. Patients with ID regularly meet barriers when trying to obtain sex education due to the misperceptions of others as being either asexual or that such education would promote inappropriate sexual behavior. In this pilot study, we surveyed genetic counselors to explore their experiences with being asked to provide sex education counseling and their comfort in doing so for patients with ID ages 9-17. Results were analyzed from 38 respondents. Caregivers and patients most frequently requested information on puberty, sex abuse prevention, and reproductive health. Genetic counselors were most comfortable when they could provide sex education counseling within the context of a particular condition or constellation of features. They were least comfortable when they lacked familiarity with the patient, caregiver, or the family's culture. The most frequently cited barriers that prevented genetic counselors from providing sex education counseling were lack of time, lack of training, the patient's ID being too profound, and a belief that genetic counselors should not be responsible for providing sex education counseling. While many respondents reported that providing sex education counseling is not considered within the scope of a genetic counselor's practice, they also noted that patients' families initiate discussions for which counselors should be prepared. Respondents indicated that resource guides specifically designed for use by genetic counselors would be beneficial to their practice. Genetic counselors have the opportunity to embrace the role of advocate and broach the issue of sexual health with caregivers and patients by directing them toward educational resources, if not providing sex education directly to effectively serve the needs of patients and caregivers.

Anchoring the Clade: Primate-Wide Comparative Analysis Supports the Relationship between Juvenile Interest in Infants and Adult Patterns of Infant Care.

Female-biased juvenile interest in infants is common in primates. Proposed hypotheses to explain juvenile infant interest are that it helps immature individuals learn to parent, is a by-product of selection on adult infant care behavior, is kin-selected cooperative rearing, or is a form of harassment. If juvenile infant interest is associated with adult infant care, either functionally or as a by-product, sex-biased patterns of juvenile infant interest and adult infant care should show correlated evolution; if juvenile infant interest functions as cooperative rearing or harassment, they should not. Comparisons of nested bayesian Markov chain Monte Carlo models of independent and dependent evolution of juvenile infant interest and adult infant care indicate strong support for coevolution of juvenile infant interest and adult infant care. Expanding comparative analysis to include available data from lemurs strengthens this support, suggesting that the function of juvenile infant interest does not differ between strepsirrhines and haplorhines. As such, strepsirrhine taxa currently maintained in captivity will be particularly useful in future work aiming to test between the learning to parent and by-product hypotheses for juvenile infant interest.

Comparative perspectives on human gender development and evolution.

Human behavioral sex differences are ubiquitous, but the degree to which these sex differences are evolved or culturally invented is hotly contested across disciplines. A review of the human research yields strong evidence that somatic and social causes are both important in human behavioral sex differentiation, but researchers in this area struggle to agree on the relative importance of each. Understanding the social and somatic determinants of nonhuman primate sex-typed development may shed light on the relative responsibility of social and somatic causes of human behavioral sex differentiation. A review of this research (and related research on the proximate drivers of nonhuman primate behavioral development more generally) indicates that primate behavioral sex differentiation is rooted in somatic causes, but that these are situated in and cannot be extricated from social influences. Overt gender socialization and phenomena such as gender performance seem to be uniquely human. Primate research using a dynamic systems theoretical approach to behavioral development has the greatest potential to further clarify the workings of human behavioral sex differentiation, and further primate research is indispensable for understanding the evolution of human sex-typed behavior.

Light and electron microscopy of laser microirradiated nucleoli and nucleoplasm in tissue culture cells.

This manuscript describes in precise detail the ultrastructural alterations produced as a result of laser microirradiation of nucleoli and nucleoplasm of tissue culture cells. Because of the general difficulty of single cell recovery, flat embedding, and serial sectioning, very few studies have ever been conducted on microbeam irradiated cells; yet the use of the microbeam technique has become widespread in functional studies of the nucleus. The results presented here demonstrate two classes of lesion material: small spherical electron dense bodies 0.05-0.02 µm in diameter and a larger, more irregular electron dense material up to 1 µm in length. The occurrence of these different types of lesion materials is described in control irradiated nucleoli and nucleoplasm, irradiated nucleoli and nucleoplasm in quinacrine treated cells, irradiated nucleoli and nucleoplasm in actinomycin D treated cells, and irradiated nucleoli and nucleoplasm in combined actinomycin D and quinacrine treated cells. In all the cells in which actinomycin D was employed, nucleoli were selectively irradiated in either their granular or fibrillar zones. The results of the ultrastructural studies are discussed in light of earlier functional studies.