Aneuploidy

This study tests whether adjusting sex hormone levels with aromatase inhibitors can improve metabolic health and sperm production in men with Klinefelter syndrome. It also examines if adding semaglutide (a weight-loss drug) or hCG provides extra benefits. The trial involves 150 m…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study offers boys aged 0-17 the chance to freeze testicular tissue before undergoing treatments like chemotherapy or radiation that could cause permanent infertility. The tissue is stored for potential future use to achieve pregnancy. Researchers will track whether transplan…

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

This study tests a special nasal airway device (ssNPA) in 40 children with weak throat muscles and obstructive sleep apnea, including those with Down syndrome. The device is designed to keep the airway open during sleep without needing surgery. Researchers will measure how well i…

This study looks at how certain brain cells (cholinergic neurons) change with age in adults with Down syndrome, and how that relates to Alzheimer's disease risk. Researchers will use brain scans and EEGs to measure these changes in 30 adults aged 18-55 who do not have dementia. T…

This study looks at embryos that were found to have extra or missing chromosomes (aneuploidy) or a mix of normal and abnormal cells (mosaicism) during genetic testing. Researchers want to see how often these embryos lead to a healthy baby and whether the pregnancy or child has an…

This study is re-testing embryos that were initially found to have three or more abnormal chromosomes (called complex or chaotic aneuploidy). Researchers want to see if some of these embryos are actually normal after a second, more careful biopsy and genetic analysis. If so, they…

This study creates a large collection of blood, saliva, urine, and other samples from 2,500 people with and without Down syndrome. The goal is to help researchers better understand Down syndrome and its related medical conditions. Participants must be between 6 months and 89 year…

This study looks at whether doing a laser-assisted hatching procedure on Day 3 or Day 5 of embryo growth changes the genetic test results in IVF. About 200 people having IVF with genetic testing will take part. The goal is to see if timing affects embryo health and the accuracy o…