Publications by authors named "Julia El Mecky"
Article Synopsis
- Adding rapid exome sequencing (rES) to traditional genetic tests enhances the ability to diagnose issues in pregnancies with ultrasound abnormalities but may also reveal unexpected results.
- A study involving 46 couples showed that while all accepted rES testing largely out of hope for better decision-making, most still chose to terminate the pregnancy based on significant ultrasound findings before receiving rES results.
- Anxiety levels among participants were high initially but decreased over time, suggesting that the direct influence of rES on parental decision-making and anxiety might be less significant than the initial ultrasound results.
Article Synopsis
- Some regular genetic tests only find problems in about 40% of pregnancies with ultrasound issues.
- A new method called rapid exome sequencing (rES) might help find more problems, but it has its challenges.
- In a study of 55 fetuses, rES found genetic issues in 8 of them, helping doctors manage care better, with results coming back in about 14 days.
Background: In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on how genetic variants relate to hereditary disease. These changes can have important consequences for patients who have had genetic testing in the past, as new information may affect their clinical management.
View Article and Find Full Text PDFObjective: The aim of this study was to explore the support needs of Dutch informal caregivers of patients with amyotrophic lateral sclerosis (ALS).
Method: Individual semi-structured interviews were conducted with 21 caregivers of ALS patients. Audio-taped interviews were transcribed and data were analyzed thematically.