Life

Background: Advances in genome-wide DNA-based technologies have fundamentally transformed prenatal genetic diagnostics, enabling detection of clinically significant submicroscopic chromosomal abnormalities that are not identifiable by conventional cytogenetic methods. These developments have important implications for the diagnosis and management of pregnancies complicated by fetal structural abnormalities, as they enable more accurate etiological diagnosis, improved prognostic assessment, and more informed clinical decision-making and reproductive counselling. Methods: This narrative review synthesizes contemporary international evidence on prenatal genetic diagnostic approaches, including conventional karyotyping, chromosomal microarray analysis (CMA), and genome-wide sequencing technologies. The review focuses on diagnostic performance, clinical utility, ethical considerations, and implementation within diverse healthcare systems. Results: Accumulating evidence demonstrates that genome-wide approaches—particularly CMA and sequencing-based methods—provide a higher diagnostic yield in fetuses with structural anomalies, with an incremental yield of approximately 3–5% over conventional karyotyping. This is mainly due to their ability to detect pathogenic copy number variants below the cytogenetic resolution of karyotyping. These technologies improve etiological insight, enhance genotype–phenotype correlation, and support more precise prognostication and reproductive counselling, especially in pregnancies with fetal structural anomalies. Emerging sequencing platforms further expand the diagnostic spectrum by integrating copy number and sequence-level variant detection. Conclusions: Genome-wide Copy Number Variation (CNV) analysis represents a critical component of contemporary prenatal diagnostics and should be integrated into invasive prenatal testing pathways in accordance with international recommendations. Genome-wide approaches need robust counselling frameworks and equitable health policy implementation to spread. The expense, lack of required experience, and variation in healthcare infrastructure across locations make widespread deployment difficult.

Over the past 30 years, cardiovascular diseases (CVD) have become the dominant contributor to the global disease burden, accounting for approximately 93% of prevalence, 54% of mortality, and 60% of disability-adjusted life-years lost [...]

Background: Motor imagery (MI) and mirror therapy (MT) are widely used neurorehabilitation strategies to enhance motor recovery after stroke and are commonly applied as adjuncts to conventional rehabilitation therapy (CRT). However, direct comparative evidence between these interventions remains limited. This systematic review compared the effects of MI and MT on motor function, functional performance, spasticity, and gait-related outcomes in adults after stroke. Methods: A systematic comparative review with narrative synthesis was conducted following PRISMA guidelines and registered in PROSPERO (CRD420251274308). PubMed, Cochrane Library, CINAHL, Scopus, Web of Science, and ScienceDirect were searched up to July 2025. Clinical trials directly comparing MI and MT in adults with stroke were included. Methodological quality was assessed using the PEDro scale, and risk of bias was evaluated with the Cochrane RoB 2 tool. Results: Six clinical trials involving 206 participants were included. Both MI and MT were associated with significant pre–post improvements across motor function, functional performance, spasticity, and gait-related outcomes. Between-group comparisons yielded heterogeneous findings, with no consistent evidence supporting the superiority of either intervention. Isolated advantages of MI were reported for specific upper-limb subdomains, but these effects were not consistently replicated. Overall methodological quality ranged from low to moderate, and all included studies were judged to be at high risk of bias according to the RoB 2 tool. Conclusions: MI and MT appear to provide comparable benefits for motor and functional recovery after stroke when used as adjuncts to CRT. Current evidence does not support the preferential use of one intervention, highlighting the need for well-designed trials with improved methodological rigor.