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http://dx.doi.org/10.1080/20502877.2023.2240173 | DOI Listing |
Biomed Res Int
January 2025
Department of Biology, College of Natural & Computational Sciences, University of Gondar, Gondar, Ethiopia.
Hepatitis and human immunodeficiency virus (HIV) are major public health issues in developing countries, including Ethiopia. These viruses can be transmitted from mother to child during birth or through contact with contaminated blood. In many areas of Ethiopia, viral hepatitis and HIV infections are significant health concerns for pregnant women.
View Article and Find Full Text PDFGenet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Genet Med Open
March 2024
Department of Pathology, Stanford University, Stanford, CA.
The number of human disease genes has dramatically increased over the past decade, largely fueled by ongoing advances in sequencing technologies. In parallel, the number of available clinical genetic tests has also increased, including the utilization of exome sequencing for undiagnosed diseases. Although most clinical sequencing tests have been centered on enrichment-based multigene panels and exome sequencing, the continued improvements in performance and throughput of genome sequencing suggest that this technology is emerging as a potential platform for routine clinical genetic testing.
View Article and Find Full Text PDFGenet Med Open
October 2024
The Children's Hospital of Philadelphia, Philadelphia, PA.
Purpose: Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline, describe their clinical and demographic characteristics, and categorize their rationales.
Methods: We reviewed medical records to collect and compare clinical and demographic information for patients whose parents consented to and declined recommended genetic testing.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Colorado School of Medicine, 12631 East 17th Ave, Aurora, USA.
Purpose: Our primary objective was to characterize clinical and procedural factors affecting sample size in chorionic villus sampling (CVS).
Methods: This retrospective, single-site cohort study included singleton pregnancies undergoing transabdominal (TA) and transcervical (TC) CVS between 2020 and 2023. Prenatal and maternal data were obtained from the electronic medical record.
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