Publications by authors named "Anne Kristine Schack"
Article Synopsis
- Newborn Screening (NBS) programs in developed countries focus on identifying treatable disorders that are not immediately evident, but many genetic conditions are still excluded due to high costs and specialized testing needs.
- A new tool called SCAN has been developed, which is non-invasive and cost-effective, and uses nanopore sequencing combined with machine learning to estimate chromosomal abnormalities.
- In initial trials, SCAN proved to be highly effective in detecting Klinefelter Syndrome, achieving perfect sensitivity, specificity, and accuracy, and could potentially be adapted to identify other genetic disorders as well.*
The importance of genetic counselling for turner syndrome transition.
Eur Child Adolesc Psychiatry
August 2024
The healthcare transition (HCT) is the process of planning, monitoring, and adjusting the clinical management from children's care to adult specialists. Although this practice is common for all children, it is especially crucial (and challenging) for those with chronic disorders and genetic conditions that also involve mental health issues, requiring a multidisciplinary approach. In this review, we aim to assess the current status of transition for girls and young women with Turner syndrome (TS) as a model as it is one of the most common sexual chromosomal aneuploidies.
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