The aim of this study was to present the results and to explore the success of combined screening at the Split University Hospital Center. A cross-sectional retrospective study was performed, including all pregnant women who underwent combined screening at the Split University Hospital Center from 2011 to 2017. Data were collected from the hospital archives. During the research period, a total of 6898 pregnant women underwent combined screening. With the high risk cut-off value set at 1:250, the sensitivity of combined screening was 81.0% and specificity 96.8% (AUC 0.929, 95% CI 0.859-1.000; p<0.001). The mean value of risk of Down syndrome based on age was higher than the one calculated by combined screening (1:487.57 vs. 1:13216.9; p<0.001). The number of women who were at a high risk of Down syndrome was significantly higher than the number of those at a high risk based on combined screening results (1457 239; p<0.001). With the increase in women's age, a statistically significant increase was detected in the mean value of risk of Down syndrome, as well as in the risk based on combined screening results (p<0.001). Combined screening detected a high risk in 8.09% (118/1457) of pregnant women at a high risk of Down syndrome, as well as in 2.22% (121/5441) of pregnant women at a low risk of it. Thus, combined screening placed 121 pregnant women at a low risk in the high-risk group. Down syndrome was subsequently confirmed in 17 (14.05%) women. Analysis of the combined screening results confirmed the validity of using the said fetal Down syndrome screening method in the study population of pregnant women.
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http://dx.doi.org/10.20471/acc.2023.62.03.16 | DOI Listing |
Eur J Nucl Med Mol Imaging
January 2025
The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, China.
Purpose: The study explores the role of multimodal imaging techniques, such as [F]F-PSMA-1007 PET/CT and multiparametric MRI (mpMRI), in predicting the ISUP (International Society of Urological Pathology) grading of prostate cancer. The goal is to enhance diagnostic accuracy and improve clinical decision-making by integrating these advanced imaging modalities with clinical variables. In particular, the study investigates the application of few-shot learning to address the challenge of limited data in prostate cancer imaging, which is often a common issue in medical research.
View Article and Find Full Text PDFArch Gynecol Obstet
January 2025
Faculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Purpose: To quantify the separation between maternal blood cell-free (cf)DNA markers in preeclampsia and unaffected pregnancies and compare with existing markers. This approach has not been used in previous studies.
Methods: Comprehensive systematic literature search of PubMed to identify studies measuring total cfDNA, fetal cf(f)DNA or the fetal fraction (FF) in pregnant women.
EMBO Mol Med
January 2025
Department of Environmental Health, Harvard T. H. Chan School of Public Health, Boston, MA, 02115, USA.
The exposome is the measure of all the exposures of an individual in a lifetime and how those exposures relate to health. Exposomics is the emerging field of research to measure and study the totality of the exposome. Exposomics can assist with molecular medicine by furthering our understanding of how the exposome influences cellular and molecular processes such as gene expression, epigenetic modifications, metabolic pathways, and immune responses.
View Article and Find Full Text PDFNat Methods
January 2025
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
A key challenge of the modern genomics era is developing empirical data-driven representations of gene function. Here we present the first unbiased morphology-based genome-wide perturbation atlas in human cells, containing three genome-wide genotype-phenotype maps comprising CRISPR-Cas9-based knockouts of >20,000 genes in >30 million cells. Our optical pooled cell profiling platform (PERISCOPE) combines a destainable high-dimensional phenotyping panel (based on Cell Painting) with optical sequencing of molecular barcodes and a scalable open-source analysis pipeline to facilitate massively parallel screening of pooled perturbation libraries.
View Article and Find Full Text PDFNPJ Digit Med
January 2025
Technology & Innovation Hub, Shirley Ryan AbilityLab, Chicago, IL, USA.
Early screening and evaluation of infant motor development are crucial for detecting motor deficits and enabling timely interventions. Traditional clinical assessments are often subjective, without fully capturing infants' "real-world" behavior. This has sparked interest in portable, low-cost technologies to objectively and precisely measure infant motion at home, with a goal of enhancing ecological validity.
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