Purpose: The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used.
Methods: Focus groups were conducted with 23 pregnant women to identify informational needs and decision-making preferences regarding emerging and anticipated applications of cell-free fetal DNA screening, the newest form of prenatal genetic screening.
Results: Participants were in favor of obtaining more genetic information about the fetus than provided by conventional screens but acknowledged the challenges inherent in navigating the unique complexities of the decision-making process. The provider-patient relationship was seen as an important resource to navigate the associated uncertainties at each stage of the screening process. Participants emphasized the need for initiatives to support a personalized, accurate, and unbiased discussion about prenatal genetic risk and assessment.
Conclusion: Continued advances in prenatal genetic screening call for new approaches to structure patient-centered communication to facilitate increasingly complex decisions about fetal genetic risk and assessment.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862378 | PMC |
http://dx.doi.org/10.1177/2374373517720482 | DOI Listing |
Front Neural Circuits
December 2024
Department of Molecular and Cellular Physiology, Shinshu University School of Medicine, Matsumoto, Japan.
Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, along with restricted and repetitive behaviors. Both genetic and environmental factors contribute to ASD, with prenatal exposure to valproic acid (VPA) and nicotine being linked to increased risk. Impaired adult hippocampal neurogenesis, particularly in the ventral region, is thought to play a role in the social deficits observed in ASD.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Programme de Bioéthique, École de santé publique, Université de Montréal, Montréal, Canada.
Objective: Advancements in non-invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions.
Method: Semi-structured interviews were conducted with Canadian HCPs who counsel pregnant individuals about NIPS.
Clin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
View Article and Find Full Text PDFActa Diabetol
January 2025
Department of Materno-Fetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), Hospital Universitario Virgen del Rocio/CSIC/University of Seville, Avda. Manuel Siurot s/n. ES, Seville, 41013, Spain.
Aims: This study aims to evaluate the impact of continuous glucose monitoring (CGM) on pregnancy outcomes in women with pregestational diabetes mellitus (PGDM).
Methods: A retrospective cohort study was conducted on 387 pregnant women with PGDM at Virgen del Rocío University Hospital in Seville, spanning from 2016 to 2022. The patients were categorized into two groups: 212 women who used continuous glucose monitoring (CGM) and 175 women who self-monitoring of blood glucose (SMBG).
Am J Hum Biol
January 2025
Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania, USA.
Objectives: The Developmental Origins of Health and Disease (DOHaD) framework contends that chronic diseases are attributable to behavioral and environmental risks encountered during vital periods of fetal and childhood development. Clinical research investigating irritable bowel syndrome (IBS) largely focuses on adult risk factors, with emerging evidence of epigenetic contributions. Limited work considers potential childhood exposures.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!