Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered.

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. 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).

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.

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.

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.

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.

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.

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.

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.

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.

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.