In this case, we explore physician conflict with performing surgery (tracheostomy) for long-term ventilation in a term infant with trisomy 18 and respiratory failure. Experts in neonatal-perinatal medicine, pediatric bioethics, and pediatric palliative care have provided comments on this case. An additional commentary was written by the parent of another infant with trisomy 18, who is also a medical provider (physical therapist).
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http://dx.doi.org/10.1542/peds.2020-010686 | DOI Listing |
Diagnostics (Basel)
December 2024
Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Department of Perinatology, Health Science University, Istanbul 34668, Turkey.
To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis.
View Article and Find Full Text PDFElife
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, United States.
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.
Methods: We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping.
Cardiol Young
October 2024
Department of Pediatrics, Division of Pediatric Cardiology, UT Southwestern Medical Center, Dallas, TX, USA.
Background: Aortic arch obstruction and/or coarctation of aorta is uncommon (5-20%) in balanced atrioventricular septal defects. Although technically challenging, prenatal diagnosis of aortic arch obstruction in atrioventricular septal defect is critical for delivery planning and improves prenatal counselling regarding the timing of cardiac surgery. We sought to identify prenatal predictors of coarctation of aorta in atrioventricular septal defect.
View Article and Find Full Text PDFPediatr Cardiol
December 2024
Department of Pediatrics, Ministry of Health Malaysia, Hospital Sultanah Aminah, Persiaran Abu Bakar Sultan, 80100, Johor Bahru, Johor DT, Malaysia.
Limited studies are available on the outcome of infants with trisomy-21 and pulmonary hypertension (PHT) in lower- and middle-income countries. This population-based cohort study aims to determine the outcome and survival from birth to 5 years of infants with trisomy-21 and PHT born between 2016 and 2021. The mortality rate and Kaplan-Meier survival analysis were calculated to assess survival rates at 1 and 5 years.
View Article and Find Full Text PDFTrisomy 21 (TS21), also known as Down syndrome (DS), increases pediatric mortality risk from respiratory syncytial virus (RSV) by nine-fold, yet its underlying immunological basis remains unclear. Here, we investigated RSV-induced immunological responses in TS21 airway epithelial cells (AECs), the primary site of respiratory virus entry and host defense. TS21 AECs exhibit hyperactive interferon (IFN) signaling and reduced RSV infectivity, but they also show impaired type-III IFN responses during viral infection.
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